Variant report

Variant	nsv894481
Chromosome Location	chr9:139709976-139810595
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6212)
CpG islands
(count:4337)
Chromatin interactive
region (count:383)
LncRNA
region (count:4)
Mature miRNA
region (count: 2)
miRNA target
sites (count:0)

(count:6212 , 50 per page) page: 1 2 3 4 5 6 7 ... 125

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr9:139736907-139736929	K562	blood:	n/a	n/a
2	ARID3A	chr9:139743544-139743972	HepG2	liver:	n/a	n/a
3	ARID3A	chr9:139779383-139779598	HepG2	liver:	n/a	n/a
4	ARID3A	chr9:139780533-139780996	K562	blood:	n/a	n/a
5	ARID3A	chr9:139742147-139742364	K562	blood:	n/a	n/a
6	ARID3A	chr9:139785139-139785222	K562	blood:	n/a	n/a
7	ARID3A	chr9:139760711-139760911	K562	blood:	n/a	n/a
8	ARID3A	chr9:139769506-139769916	K562	blood:	n/a	n/a
9	ARID3A	chr9:139795759-139796262	HepG2	liver:	n/a	n/a
10	ARID3A	chr9:139776995-139777503	HepG2	liver:	n/a	n/a
11	ARID3A	chr9:139781413-139781581	HepG2	liver:	n/a	n/a
12	ATF1	chr9:139760585-139761093	K562	blood:	n/a	n/a
13	ATF1	chr9:139769514-139769972	K562	blood:	n/a	n/a
14	ATF1	chr9:139780562-139780946	K562	blood:	n/a	n/a
15	ATF2	chr9:139776134-139776586	GM12878	blood:	n/a	n/a
16	ATF2	chr9:139742176-139742480	GM12878	blood:	n/a	n/a
17	ATF2	chr9:139796219-139797399	GM12878	blood:	n/a	n/a
18	ATF2	chr9:139742264-139742679	H1-hESC	embryonic stem cell:	n/a	n/a
19	ATF2	chr9:139736640-139737063	H1-hESC	embryonic stem cell:	n/a	n/a
20	ATF2	chr9:139776840-139777455	GM12878	blood:	n/a	n/a
21	ATF2	chr9:139796801-139797132	GM12878	blood:	n/a	n/a
22	ATF2	chr9:139735792-139736365	H1-hESC	embryonic stem cell:	n/a	n/a
23	ATF2	chr9:139736777-139737056	GM12878	blood:	n/a	n/a
24	ATF2	chr9:139743477-139744106	GM12878	blood:	n/a	n/a
25	ATF2	chr9:139736631-139737244	GM12878	blood:	n/a	n/a
26	ATF2	chr9:139760665-139761040	GM12878	blood:	n/a	n/a
27	ATF2	chr9:139776954-139777336	GM12878	blood:	n/a	n/a
28	ATF2	chr9:139735853-139736409	H1-hESC	embryonic stem cell:	n/a	n/a
29	ATF2	chr9:139793565-139794189	GM12878	blood:	n/a	n/a
30	ATF2	chr9:139736664-139737158	H1-hESC	embryonic stem cell:	n/a	n/a
31	ATF2	chr9:139743450-139744115	H1-hESC	embryonic stem cell:	n/a	n/a
32	ATF2	chr9:139743482-139744120	GM12878	blood:	n/a	n/a
33	ATF2	chr9:139743426-139744147	H1-hESC	embryonic stem cell:	n/a	n/a
34	ATF3	chr9:139776994-139777355	K562	blood:	n/a	n/a
35	ATF3	chr9:139743488-139743842	H1-hESC	embryonic stem cell:	n/a	n/a
36	ATF3	chr9:139797607-139798157	A549	lung:	n/a	n/a
37	ATF3	chr9:139741964-139742584	A549	lung:	n/a	chr9:139742335-139742344
38	ATF3	chr9:139760683-139761050	K562	blood:	n/a	chr9:139760883-139760903 chr9:139760894-139760914 chr9:139760832-139760841
39	ATF3	chr9:139760709-139761025	HepG2	liver:	n/a	chr9:139760883-139760903 chr9:139760894-139760914 chr9:139760832-139760841
40	ATF3	chr9:139760616-139760974	H1-hESC	embryonic stem cell:	n/a	chr9:139760883-139760903 chr9:139760894-139760914 chr9:139760832-139760841
41	ATF3	chr9:139780471-139780896	A549	lung:	n/a	n/a
42	ATF3	chr9:139776969-139777268	K562	blood:	n/a	n/a
43	ATF3	chr9:139776712-139777395	A549	lung:	n/a	n/a
44	ATF3	chr9:139743456-139743895	K562	blood:	n/a	n/a
45	ATF3	chr9:139796786-139797264	A549	lung:	n/a	n/a
46	ATF3	chr9:139760564-139761224	K562	blood:	n/a	chr9:139760883-139760903 chr9:139760894-139760914 chr9:139760832-139760841
47	ATF3	chr9:139760650-139761066	H1-hESC	embryonic stem cell:	n/a	chr9:139760883-139760903 chr9:139760894-139760914 chr9:139760832-139760841
48	ATF3	chr9:139780530-139780810	K562	blood:	n/a	n/a
49	ATF3	chr9:139779255-139779832	A549	lung:	n/a	n/a
50	ATF3	chr9:139796775-139797366	A549	lung:	n/a	n/a

(count:4337 , 50 per page) page: 1 2 3 4 5 6 7 ... 87

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:139744532-139744582	PFSK-1	brain:	n/a
2	chr9:139796499-139796549	BJ	skin:	n/a
3	chr9:139716215-139716265	SAEC	small airway:	n/a
4	chr9:139760673-139760723	GM19239	blood:	n/a
5	chr9:139739690-139739740	NB4	blood:	n/a
6	chr9:139801238-139801288	H1-hESC	embryonic stem cell:	embryo
7	chr9:139744532-139744582	PFSK-1	brain:	n/a
8	chr9:139796499-139796549	BJ	skin:	n/a
9	chr9:139716215-139716265	SAEC	small airway:	n/a
10	chr9:139760673-139760723	GM19239	blood:	n/a
11	chr9:139739690-139739740	NB4	blood:	n/a
12	chr9:139801238-139801288	H1-hESC	embryonic stem cell:	embryo
13	chr9:139776893-139776943	HL-60	blood:	n/a
14	chr9:139743720-139743770	H1-hESC	embryonic stem cell:	embryo
15	chr9:139761812-139761862	ProgFib	skin:	n/a
16	chr9:139757366-139757416	AG09319	gingival:	n/a
17	chr9:139738819-139738869	PrEC	prostate:	n/a
18	chr9:139714243-139714293	AG09309	skin:	n/a
19	chr9:139724279-139724329	HCM	heart:	n/a
20	chr9:139782892-139782942	HCM	heart:	n/a
21	chr9:139757101-139757151	GM12891	blood:	n/a
22	chr9:139732622-139732672	HEK293	kidney:	embryo
23	chr9:139780896-139780946	HPAEpiC	pulmonary alveolar:	n/a
24	chr9:139757366-139757416	ECC-1	luminal epithelium:	n/a
25	chr9:139746715-139746765	AG04450	lung:	fetal
26	chr9:139730261-139730311	SK-N-SH_RA	brain:	n/a
27	chr9:139724279-139724329	HCPEpiC	choroid plexus:	n/a
28	chr9:139746715-139746765	NB4	blood:	n/a
29	chr9:139724279-139724329	HNPCEpiC	eye:	n/a
30	chr9:139744532-139744582	HL-60	blood:	n/a
31	chr9:139763798-139763848	GM19239	blood:	n/a
32	chr9:139762006-139762056	ProgFib	skin:	n/a
33	chr9:139781209-139781259	SKMC	muscle:	n/a
34	chr9:139780699-139780749	HepG2	liver:	n/a
35	chr9:139746122-139746172	SAEC	small airway:	n/a
36	chr9:139779897-139779947	SK-N-SH_RA	brain:	n/a
37	chr9:139735338-139735388	AoSMC	blood vessel:	n/a
38	chr9:139760589-139760639	ECC-1	luminal epithelium:	n/a
39	chr9:139720449-139720499	GM12878	blood:	n/a
40	chr9:139743284-139743334	Caco-2	colon:	n/a
41	chr9:139803690-139803740	MCF10A-Er-Src	breast:	n/a
42	chr9:139743225-139743275	ovcar-3	ovarian:	n/a
43	chr9:139724279-139724329	HEK293	kidney:	embryo
44	chr9:139746152-139746202	PFSK-1	brain:	n/a
45	chr9:139781630-139781680	GM12891	blood:	n/a
46	chr9:139779708-139779758	GM06990	blood:	n/a
47	chr9:139762139-139762189	HEEpiC	esophagus:	n/a
48	chr9:139746122-139746172	AG04450	lung:	fetal
49	chr9:139743284-139743334	RPTEC	kidney:	n/a
50	chr9:139801238-139801288	AG04449	skin:	fetal

(count:383 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Distal block	Cell Line	Cell type
1	chr9:139735493..139737881-chr9:139795541..139798423,3	MCF-7	breast:
2	chr9:139683956..139686805-chr9:139759476..139762269,2	K562	blood:
3	chr9:139740209..139743160-chr9:139977902..139980891,3	MCF-7	breast:
4	chr9:139739152..139745418-chr9:139778222..139783565,14	K562	blood:
5	chr9:139789464..139791827-chr9:139888606..139890570,2	MCF-7	breast:
6	chr9:139740288..139765167-chr9:139774067..139789146,84	MCF-7	breast:
7	chr9:139760872..139763014-chr9:139765369..139767461,4	K562	blood:
8	chr9:139764676..139767070-chr9:139801133..139804064,3	MCF-7	breast:
9	chr9:139714480..139716923-chr9:139720480..139723812,4	MCF-7	breast:
10	chr5:32444291..32445214-chr9:139742372..139742988,2	Hela-S3	cervix:
11	chr9:139736568..139738310-chr9:139885473..139887903,2	MCF-7	breast:
12	chr9:139698288..139709144-chr9:139715250..139723582,16	K562	blood:
13	chr9:139618735..139620597-chr9:139748089..139749638,2	MCF-7	breast:
14	chr9:139760859..139763752-chr9:139776295..139778070,2	K562	blood:
15	chr9:139741435..139745914-chr9:139791926..139799555,14	MCF-7	breast:
16	chr9:139691318..139694320-chr9:139739366..139743319,3	K562	blood:
17	chr9:139709356..139711557-chr9:139726893..139729253,2	K562	blood:
18	chr9:139756239..139758238-chr9:139914935..139917895,2	K562	blood:
19	chr9:139692083..139695563-chr9:139755460..139757821,3	MCF-7	breast:
20	chr9:139679045..139680711-chr9:139735459..139738050,2	MCF-7	breast:
21	chr9:139741922..139742879-chr9:139838558..139839098,2	MCF-7	breast:
22	chr9:139700801..139702850-chr9:139780217..139783143,3	MCF-7	breast:
23	chr9:139758934..139762609-chr9:139779373..139784287,7	K562	blood:
24	chr9:139714966..139717134-chr9:139723386..139726367,2	K562	blood:
25	chr9:139733185..139734905-chr9:139959096..139961430,2	MCF-7	breast:
26	chr9:139684686..139686805-chr9:139760769..139762307,2	K562	blood:
27	chr9:139736164..139738277-chr9:139795982..139798065,2	MCF-7	breast:
28	chr9:139799693..139801379-chr9:139803602..139805733,2	MCF-7	breast:
29	chr9:139758319..139759989-chr9:139844595..139846136,2	K562	blood:
30	chr9:139792836..139799400-chr9:139842261..139846047,7	MCF-7	breast:
31	chr6:30583462..30584353-chr9:139743511..139744032,2	Hela-S3	cervix:
32	chr9:139692582..139697157-chr9:139741560..139746001,12	MCF-7	breast:
33	chr9:139750688..139755458-chr9:139795433..139799837,5	MCF-7	breast:
34	chr9:139721486..139724023-chr9:139724414..139726238,2	MCF-7	breast:
35	chr9:139776534..139779437-chr9:139963406..139967722,3	MCF-7	breast:
36	chr9:139769964..139771564-chr9:139789375..139792259,2	K562	blood:
37	chr9:139707644..139710200-chr9:139718629..139721515,3	K562	blood:
38	chr9:139735444..139738045-chr9:139916095..139917945,2	MCF-7	breast:
39	chr9:139794720..139797503-chr9:139940161..139941750,2	MCF-7	breast:
40	chr9:139734289..139738346-chr9:139834240..139837376,4	MCF-7	breast:
41	chr18:62739096..62739905-chr9:139731031..139731728,2	MCF-7	breast:
42	chr9:139742958..139743712-chr9:139780306..139780835,2	Hela-S3	cervix:
43	chr9:139769440..139771521-chr9:139795419..139797849,2	MCF-7	breast:
44	chr9:139685272..139687236-chr9:139783437..139786045,2	MCF-7	breast:
45	chr9:139769964..139771564-chr9:139789375..139792259,2	K562	blood:
46	chr9:139700348..139703243-chr9:139796477..139799299,3	MCF-7	breast:
47	chr9:139760746..139762936-chr9:139962388..139964127,2	MCF-7	breast:
48	chr9:139743088..139744614-chr9:139769688..139771309,2	K562	blood:
49	chr9:139693062..139698077-chr9:139715739..139719346,4	K562	blood:
50	chr9:139795672..139799443-chr9:139799856..139804982,9	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C9orf86-1	chr9:139736279-139736680	XLOC_007617
2	lnc-MAMDC4-3	chr9:139794255-139794736	expReg_chr9_9714_+
3	lnc-MAMDC4-2	chr9:139777458-139779043	ucscGeneNc_uc010nco_1
4	lnc-C9orf86-1	chr9:139736779-139736848	XLOC_007617

miRNA name	Chromosome Location	mirBase accession
hsa-miR-4292	chr9:139725448-139725465	MIMAT0016919
hsa-miR-4479	chr9:139781229-139781250	MIMAT0019011

No data

Variant related genes	Relation type
PHPT1	TF binding region
TRAF2	TF binding region
NCLP1	TF binding region
MIR4292	TF binding region
MIR4479	TF binding region
EDF1	TF binding region
RABL6	TF binding region
MAMDC4	TF binding region
C9orf172	TF binding region
PHPT1	CpG island
TRAF2	CpG island
NCLP1	CpG island
MIR4292	CpG island
MIR4479	CpG island
EDF1	CpG island
RABL6	CpG island
MAMDC4	CpG island
C9orf172	CpG island
ENSG00000236394	chromatin interactions
ENSG00000224662	chromatin interactions
ENSG00000082641	chromatin interactions
ENSG00000169583	chromatin interactions
ENSG00000116688	chromatin interactions
ENSG00000268996	chromatin interactions
ENSG00000176919	chromatin interactions
ENSG00000265148	chromatin interactions
ENSG00000198569	chromatin interactions
ENSG00000107223	chromatin interactions
ENSG00000107281	chromatin interactions
ENSG00000271122	chromatin interactions
ENSG00000141519	chromatin interactions
ENSG00000222894	chromatin interactions
ENSG00000233016	chromatin interactions
ENSG00000213213	chromatin interactions
ENSG00000273066	chromatin interactions
ENSG00000260996	chromatin interactions
ENSG00000124422	chromatin interactions
ENSG00000081913	chromatin interactions
ENSG00000122557	chromatin interactions
ENSG00000177239	chromatin interactions
ENSG00000125285	chromatin interactions
ENSG00000146278	chromatin interactions
ENSG00000033030	chromatin interactions
ENSG00000184925	chromatin interactions
ENSG00000159069	chromatin interactions
ENSG00000056097	chromatin interactions
ENSG00000232434	chromatin interactions
ENSG00000107317	chromatin interactions
ENSG00000127191	chromatin interactions
ENSG00000213212	chromatin interactions
ENSG00000169905	chromatin interactions
ENSG00000148362	chromatin interactions
ENSG00000005379	chromatin interactions
ENSG00000265806	chromatin interactions
ENSG00000272896	chromatin interactions
ENSG00000272679	chromatin interactions
ENSG00000177943	chromatin interactions
ENSG00000266507	chromatin interactions
ENSG00000244187	chromatin interactions
ENSG00000180539	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000188229	chromatin interactions
ENSG00000107331	chromatin interactions
ENSG00000186193	chromatin interactions
ENSG00000172977	chromatin interactions
ENSG00000263697	chromatin interactions
ENSG00000062716	chromatin interactions
ENSG00000120963	chromatin interactions
ENSG00000260190	chromatin interactions
ENSG00000228544	chromatin interactions
ENSG00000149273	chromatin interactions
ENSG00000054148	chromatin interactions
ENSG00000169692	chromatin interactions
ENSG00000165716	chromatin interactions
ENSG00000180549	chromatin interactions
ENSG00000213590	chromatin interactions
ENSG00000196642	chromatin interactions
ENSG00000054179	chromatin interactions
C1orf77	miRNA target sites
UBA2	miRNA target sites

Extended variants
information (count: 5230 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:5230 , 50 per page) page: 1 2 3 4 5 6 7 ... 105

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2484661	chr9:139709976-139709977	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs531057508	chr9:139710065-139710066	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
3	rs550855598	chr9:139710084-139710085	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
4	rs140592560	chr9:139710183-139710184	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
5	rs530332658	chr9:139710286-139710287	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
6	rs552363311	chr9:139710298-139710299	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
7	rs548936799	chr9:139710311-139710312	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
8	rs562720584	chr9:139710341-139710342	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
9	rs186990964	chr9:139710349-139710350	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
10	rs564973141	chr9:139710365-139710366	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
11	rs150492019	chr9:139710406-139710407	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
12	rs78500376	chr9:139710452-139710453	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
13	rs145339165	chr9:139710492-139710493	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
14	rs150286588	chr9:139710516-139710517	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
15	rs371151752	chr9:139710517-139710518	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
16	rs571455244	chr9:139710569-139710570	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
17	rs537202136	chr9:139710596-139710597	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
18	rs116431880	chr9:139710632-139710633	Weak transcription Strong transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
19	rs191134530	chr9:139710652-139710653	Weak transcription Strong transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
20	rs149203853	chr9:139710661-139710662	Weak transcription Strong transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
21	rs112147201	chr9:139710668-139710669	Weak transcription Strong transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
22	rs558968233	chr9:139710701-139710702	Weak transcription Strong transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
23	rs536169887	chr9:139710759-139710760	Weak transcription Strong transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
24	rs183439378	chr9:139710761-139710762	Weak transcription Strong transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
25	rs573186479	chr9:139710767-139710768	Weak transcription Strong transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
26	rs62581427	chr9:139710787-139710788	Weak transcription Strong transcription	TF binding region Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs145111673	chr9:139710795-139710796	Weak transcription Strong transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
28	rs575346702	chr9:139710797-139710798	Weak transcription Strong transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
29	rs544354714	chr9:139710823-139710824	Weak transcription Strong transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
30	rs561170036	chr9:139710848-139710849	Weak transcription Strong transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
31	rs530386427	chr9:139710868-139710869	Weak transcription Strong transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
32	rs540596210	chr9:139710875-139710876	Weak transcription Strong transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
33	rs185860248	chr9:139710908-139710909	Weak transcription Strong transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
34	rs376261946	chr9:139711026-139711027	Weak transcription Strong transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
35	rs189976224	chr9:139711037-139711038	Weak transcription Strong transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
36	rs551402390	chr9:139711069-139711070	Weak transcription Strong transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
37	rs527955352	chr9:139711081-139711082	Weak transcription Strong transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
38	rs571316053	chr9:139711125-139711126	Weak transcription Strong transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
39	rs530643518	chr9:139711162-139711163	Weak transcription Strong transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
40	rs550760139	chr9:139711184-139711185	Weak transcription Strong transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
41	rs7867772	chr9:139711187-139711188	Weak transcription Strong transcription	Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs373267839	chr9:139711188-139711189	Weak transcription Strong transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
43	rs182346203	chr9:139711356-139711357	Weak transcription Strong transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
44	rs138845537	chr9:139711456-139711457	Weak transcription Strong transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
45	rs553039874	chr9:139711481-139711482	Weak transcription Strong transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
46	rs566849182	chr9:139711482-139711483	Weak transcription Strong transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
47	rs538609956	chr9:139711499-139711500	Weak transcription Strong transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
48	rs558534190	chr9:139711592-139711593	Weak transcription Strong transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
49	rs527570834	chr9:139711598-139711599	Weak transcription Strong transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
50	rs199740668	chr9:139711609-139711610	Weak transcription Strong transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
Urothelial carcinoma	21177765	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17603634	CNVD
Oral cancer	21386901	CNVD
Cardiac fibroma	18329553	CNVD
Lung cancer	19147751	CNVD
Melanoma	18172304	CNVD
Cervical cancer	16585170	CNVD
Ependymoma	19289631	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Cervical cancer	17311676	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Chordoma	18071362	CNVD
small cell lung cancer	20016488	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Kleefstra Syndrome	21538692	CNVD
Disorders of sex development	22290220	CNVD
Cancer	21183584	CNVD
Chronic myelomonocytic leukemia	16760666	CNVD
Abnormal phenotypes	18644119	CNVD
Ovarian cancer	21720365	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Sudden cardiac death	19188705	CNVD
Myoepithelioma	18604193	CNVD
Tuberous sclerosis	19566914	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Hepatocellular carcinoma	22174799	CNVD
Idiopathic chronic pancreatitis	21572526	CNVD
Kleefstra syndrome	22670141	CNVD
Schizophrenia	22241247	CNVD
9q deletion syndrome	16826528	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Non-small cell lung cancer	21829676	CNVD
Non-syndromic sensorineural hearing loss	19293338	CNVD
Neurodevelopmental disorder	22521361	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Mantle cell lymphoma	19029149	CNVD
Autism	20808228	CNVD
Epilepsy	22083797	CNVD
Cancer	20164920	CNVD
Breast cancer	21509527	CNVD
Developmental delay	20877625	CNVD
Hypoplastic	20877625	CNVD
Mental retardation	20877625	CNVD
Microcephaly	20877625	CNVD
Palpebral fissures	20877625	CNVD
Melanoma	20877625	CNVD
Medulloblastoma	21163964	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Autism	22495309	CNVD

Chromatin state (count:5821 , 50 per page) page: 1 2 3 4 5 6 7 ... 117

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:139703400-139715400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr9:139704000-139715200	Weak transcription	Fetal Kidney	kidney
3	chr9:139704000-139715400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr9:139704000-139715400	Weak transcription	Right Atrium	heart
5	chr9:139704400-139711000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr9:139704400-139715200	Weak transcription	Brain Substantia Nigra	brain
7	chr9:139704400-139718000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr9:139704800-139712400	Strong transcription	Thymus	Thymus
9	chr9:139704800-139712800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr9:139704800-139713400	Strong transcription	Fetal Stomach	stomach
11	chr9:139704800-139715200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr9:139704800-139715200	Weak transcription	NH-A	brain
13	chr9:139704800-139715400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr9:139704800-139715600	Weak transcription	Psoas Muscle	Psoas
15	chr9:139704800-139715800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr9:139704800-139716000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr9:139704800-139718000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr9:139704800-139736000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr9:139705000-139710000	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr9:139705000-139712000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr9:139705000-139712000	Strong transcription	NHEK	skin
22	chr9:139705000-139713200	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr9:139705000-139715200	Weak transcription	HUVEC	blood vessel
24	chr9:139705000-139715400	Weak transcription	Colon Smooth Muscle	Colon
25	chr9:139705000-139717800	Weak transcription	Liver	Liver
26	chr9:139705000-139723200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr9:139705000-139724600	Weak transcription	GM12878-XiMat	blood
28	chr9:139705000-139736800	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr9:139705400-139714000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr9:139705600-139710200	Strong transcription	Cortex derived primary cultured neurospheres	brain
31	chr9:139705600-139710200	Strong transcription	Dnd41	blood
32	chr9:139705600-139711000	Strong transcription	Fetal Muscle Trunk	muscle
33	chr9:139705600-139712400	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr9:139705600-139715000	Weak transcription	Fetal Brain Male	brain
35	chr9:139705600-139717600	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr9:139705600-139736200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr9:139705800-139712400	Strong transcription	Fetal Intestine Large	intestine
38	chr9:139705800-139713600	Strong transcription	Fetal Intestine Small	intestine
39	chr9:139705800-139715000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr9:139706200-139717800	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr9:139706400-139715200	Weak transcription	Fetal Heart	heart
42	chr9:139706600-139711800	Strong transcription	K562	blood
43	chr9:139706600-139712200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr9:139707000-139710600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr9:139707000-139710600	Strong transcription	Fetal Brain Female	brain
46	chr9:139707000-139711400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr9:139707200-139710000	Strong transcription	Duodenum Mucosa	Duodenum
48	chr9:139707200-139710400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
49	chr9:139707200-139710800	Strong transcription	H9 Cell Line	embryonic stem cell
50	chr9:139707400-139710400	Strong transcription	Brain Hippocampus Middle	brain

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