Variant report

Variant	nsv899558
Chromosome Location	chr12:121161589-121179939
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:564)
CpG islands
(count:1770)
Chromatin interactive
region (count:43)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:564 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:121163478-121163589	HepG2	liver:	n/a	n/a
2	ARID3A	chr12:121165687-121165887	HepG2	liver:	n/a	n/a
3	BCL3	chr12:121163004-121163782	A549	lung:	n/a	chr12:121163544-121163557
4	BHLHE40	chr12:121163396-121163606	GM12878	blood:	n/a	n/a
5	BHLHE40	chr12:121163613-121163813	K562	blood:	n/a	n/a
6	BRCA1	chr12:121179594-121179656	HepG2	liver:	n/a	n/a
7	BRCA1	chr12:121163441-121163662	Hela-S3	cervix:	n/a	n/a
8	CCNT2	chr12:121163407-121163971	K562	blood:	n/a	chr12:121163544-121163553 chr12:121163933-121163942
9	CEBPB	chr12:121165635-121165999	HepG2	liver:	n/a	chr12:121165806-121165817
10	CEBPB	chr12:121179708-121180272	HepG2	liver:	n/a	n/a
11	CEBPB	chr12:121165707-121165935	HepG2	liver:	n/a	chr12:121165806-121165817
12	CEBPB	chr12:121163505-121163675	Hela-S3	cervix:	n/a	n/a
13	CEBPB	chr12:121165563-121166001	HepG2	liver:	n/a	chr12:121165806-121165817
14	CEBPB	chr12:121165634-121165998	HepG2	liver:	n/a	chr12:121165806-121165817
15	CEBPD	chr12:121165707-121165874	HepG2	liver:	n/a	n/a
16	CEBPD	chr12:121163532-121163874	HepG2	liver:	n/a	n/a
17	CHD1	chr12:121163367-121163771	GM12878	blood:	n/a	n/a
18	CHD2	chr12:121163409-121163835	Hela-S3	cervix:	n/a	n/a
19	CHD2	chr12:121163414-121163851	K562	blood:	n/a	n/a
20	CHD2	chr12:121164188-121164376	GM12878	blood:	n/a	n/a
21	CHD2	chr12:121163549-121163795	H1-hESC	embryonic stem cell:	n/a	n/a
22	CHD2	chr12:121164309-121164383	K562	blood:	n/a	n/a
23	CREB1	chr12:121163376-121163831	A549	lung:	n/a	n/a
24	CTCF	chr12:121175720-121175870	WI-38	lung:	n/a	n/a
25	CTCF	chr12:121175860-121176010	HCM	heart:	n/a	n/a
26	CTCF	chr12:121175900-121176050	HVMF	connective:	n/a	n/a
27	CTCF	chr12:121175900-121176050	HFF-Myc	foreskin:	n/a	n/a
28	CTCF	chr12:121175780-121175930	HRPEpiC	eye:	n/a	n/a
29	CTCF	chr12:121175900-121176050	HMEC	breast:	n/a	n/a
30	CTCF	chr12:121168220-121168370	A549	lung:	n/a	chr12:121168294-121168304 chr12:121168286-121168307 chr12:121168297-121168306 chr12:121168291-121168309
31	CTCF	chr12:121175960-121176110	HAc	cerebellar:	n/a	n/a
32	CTCF	chr12:121168235-121168279	GM12878	blood:	n/a	n/a
33	CTCF	chr12:121168241-121168304	MCF-7	breast:	n/a	chr12:121168294-121168304
34	CTCF	chr12:121175860-121176010	SAEC	small airway:	n/a	n/a
35	CTCF	chr12:121175840-121175990	AG10803	skin:	n/a	n/a
36	CTCF	chr12:121175920-121176070	NHDF-neo	bronchial:	n/a	n/a
37	CTCF	chr12:121168092-121168366	HepG2	liver:	n/a	chr12:121168294-121168304 chr12:121168286-121168307 chr12:121168297-121168306 chr12:121168291-121168309
38	CTCF	chr12:121175900-121176050	HCPEpiC	choroid plexus:	n/a	n/a
39	CTCF	chr12:121175860-121176010	BJ	skin:	n/a	n/a
40	CTCF	chr12:121175900-121176050	GM12875	blood:	n/a	n/a
41	CTCF	chr12:121175780-121175930	HA-sp	spinal cord:	n/a	n/a
42	CTCF	chr12:121175820-121175970	GM06990	blood:	n/a	n/a
43	CTCF	chr12:121175860-121176045	GM12892	blood:	n/a	n/a
44	CTCF	chr12:121168127-121168358	HepG2	liver:	n/a	chr12:121168294-121168304 chr12:121168286-121168307 chr12:121168297-121168306 chr12:121168291-121168309
45	CTCF	chr12:121175860-121176010	HEEpiC	esophagus:	n/a	n/a
46	CTCF	chr12:121175900-121176050	NHLF	lung:	n/a	n/a
47	CTCF	chr12:121175836-121176018	K562	blood:	n/a	n/a
48	CTCF	chr12:121163660-121163810	SAEC	small airway:	n/a	n/a
49	CTCF	chr12:121175983-121176002	GM10266	blood:	n/a	n/a
50	CTCF	chr12:121175905-121176023	ProgFib	skin:	n/a	n/a

(count:1770 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:121177221-121177271	H1-hESC	embryonic stem cell:	embryo
2	chr12:121177221-121177271	H1-hESC	embryonic stem cell:	embryo
3	chr12:121163851-121163901	AG09309	skin:	n/a
4	chr12:121175115-121175165	GM12892	blood:	n/a
5	chr12:121163418-121163468	SK-N-SH	brain:	n/a
6	chr12:121164646-121164696	NT2-D1	testis:	n/a
7	chr12:121163497-121163547	NB4	blood:	n/a
8	chr12:121177413-121177463	AG04450	lung:	fetal
9	chr12:121163489-121163539	AG10803	skin:	n/a
10	chr12:121163694-121163744	NB4	blood:	n/a
11	chr12:121175674-121175724	SK-N-SH_RA	brain:	n/a
12	chr12:121163489-121163539	NHBE	bronchial:	n/a
13	chr12:121175115-121175165	HRE	kidney:	n/a
14	chr12:121177288-121177338	ovcar-3	ovarian:	n/a
15	chr12:121166143-121166193	HL-60	blood:	n/a
16	chr12:121164646-121164696	SKMC	muscle:	n/a
17	chr12:121177142-121177192	AG09319	gingival:	n/a
18	chr12:121175819-121175869	AG09319	gingival:	n/a
19	chr12:121177413-121177463	GM19239	blood:	n/a
20	chr12:121163887-121163937	NT2-D1	testis:	n/a
21	chr12:121177221-121177271	PANC-1	pancreas:	n/a
22	chr12:121163261-121163311	AG09319	gingival:	n/a
23	chr12:121163493-121163543	GM12892	blood:	n/a
24	chr12:121175417-121175467	BE2_C	brain:	n/a
25	chr12:121166143-121166193	HIPEpiC	eye:	n/a
26	chr12:121163367-121163417	RPTEC	kidney:	n/a
27	chr12:121163597-121163647	HRE	kidney:	n/a
28	chr12:121174878-121174928	AG09319	gingival:	n/a
29	chr12:121177413-121177463	HCF	heart:	n/a
30	chr12:121166143-121166193	HAEpiC	amniotic membrane:	n/a
31	chr12:121164194-121164244	HNPCEpiC	eye:	n/a
32	chr12:121164371-121164421	Hela-S3	cervix:	n/a
33	chr12:121163418-121163468	GM12878	blood:	n/a
34	chr12:121163418-121163468	U87	brain:	n/a
35	chr12:121174878-121174928	HCT-116	colon:	n/a
36	chr12:121164371-121164421	MCF-7	breast:	n/a
37	chr12:121175010-121175060	RPTEC	kidney:	n/a
38	chr12:121164646-121164696	HCM	heart:	n/a
39	chr12:121175819-121175869	GM12892	blood:	n/a
40	chr12:121163887-121163937	SAEC	small airway:	n/a
41	chr12:121175674-121175724	AG04449	skin:	fetal
42	chr12:121164646-121164696	NB4	blood:	n/a
43	chr12:121177413-121177463	SK-N-MC	brain:	n/a
44	chr12:121175481-121175531	GM12878	blood:	n/a
45	chr12:121163597-121163647	HMEC	breast:	n/a
46	chr12:121177340-121177390	Caco-2	colon:	n/a
47	chr12:121163887-121163937	HepG2	liver:	n/a
48	chr12:121175481-121175531	HCF	heart:	n/a
49	chr12:121164025-121164075	NH-A	brain:	n/a
50	chr12:121175010-121175060	HCF	heart:	n/a

(count:43 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:121179321..121181352-chr12:121340474..121342443,2	MCF-7	breast:
2	chr12:121163197..121163956-chr16:31191423..31192105,2	Hela-S3	cervix:
3	chr12:121157650..121161198-chr12:121163529..121166472,5	K562	blood:
4	chr12:121163485..121165709-chr12:121272071..121274503,2	MCF-7	breast:
5	chr12:121148319..121151196-chr12:121161623..121163655,2	K562	blood:
6	chr12:121159870..121162504-chr12:121416031..121417915,2	K562	blood:
7	chr12:121171766..121173339-chr12:121175246..121177538,2	K562	blood:
8	chr12:121146305..121152610-chr12:121160959..121168394,8	MCF-7	breast:
9	chr12:121167755..121169709-chr12:121199569..121201088,2	K562	blood:
10	chr12:121171766..121173339-chr12:121175246..121177538,2	K562	blood:
11	chr12:121170705..121172790-chr12:121179544..121181594,2	MCF-7	breast:
12	chr12:121018631..121020878-chr12:121162530..121164769,2	MCF-7	breast:
13	chr12:121162994..121164820-chr12:121167005..121169099,2	MCF-7	breast:
14	chr12:121173832..121176734-chr12:121177102..121180443,4	K562	blood:
15	chr12:121175546..121176448-chr12:121409310..121410146,4	MCF-7	breast:
16	chr12:121166188..121170592-chr12:121174629..121177744,4	K562	blood:
17	chr12:121174261..121175937-chr12:121403993..121406712,2	MCF-7	breast:
18	chr12:120965517..120967163-chr12:121175492..121177700,2	K562	blood:
19	chr12:121161764..121164291-chr12:121170206..121171996,2	K562	blood:
20	chr12:121164614..121167510-chr12:121171430..121173002,2	K562	blood:
21	chr12:121136675..121138856-chr12:121162469..121164078,2	K562	blood:
22	chr12:121166701..121168249-chr12:121176996..121179213,2	MCF-7	breast:
23	chr12:120932256..120933907-chr12:121163568..121165068,2	K562	blood:
24	chr12:121169092..121171751-chr12:121174629..121176427,2	K562	blood:
25	chr12:121164614..121167510-chr12:121171430..121173002,2	K562	blood:
26	chr12:121169092..121171751-chr12:121174629..121176427,2	K562	blood:
27	chr12:121162627..121165577-chr12:121173142..121175211,3	MCF-7	breast:
28	chr12:121175837..121176393-chr12:121409274..121410074,2	MCF-7	breast:
29	chr12:121166188..121170592-chr12:121174629..121177744,4	K562	blood:
30	chr12:121170705..121172790-chr12:121179544..121181594,2	MCF-7	breast:
31	chr12:121146426..121149148-chr12:121171776..121173750,2	MCF-7	breast:
32	chr12:120729060..120730758-chr12:121163308..121164812,2	K562	blood:
33	chr12:121166233..121168963-chr12:121173743..121176239,2	K562	blood:
34	chr11:67141023..67142718-chr12:121176121..121177621,2	MCF-7	breast:
35	chr12:121166701..121168249-chr12:121176996..121179213,2	MCF-7	breast:
36	chr12:121161440..121165409-chr12:121166157..121170080,9	K562	blood:
37	chr12:121166233..121168963-chr12:121173743..121176239,2	K562	blood:
38	chr12:121158850..121162908-chr12:121176341..121179016,3	K562	blood:
39	chr12:121161408..121164023-chr12:121176552..121178436,2	K562	blood:
40	chr12:121173832..121176734-chr12:121177102..121180443,4	K562	blood:
41	chr12:121160022..121162940-chr12:121166052..121168172,2	MCF-7	breast:
42	chr12:121124509..121126833-chr12:121162138..121164295,2	K562	blood:
43	chr12:121124457..121126009-chr12:121161896..121164295,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SPPL3.1-1	chr12:121179015-121179321	ENSG00000255946.1
2	lnc-SPPL3.1-1	chr12:121178273-121178346	ENSG00000255946.1

No data

Variant related genes	Relation type
ACADS	TF binding region
ENSG00000256569	TF binding region
ACADS	CpG island
ENSG00000256569	CpG island
ENSG00000256514	chromatin interactions
ENSG00000110871	chromatin interactions
ENSG00000202538	chromatin interactions
ENSG00000135100	chromatin interactions
ENSG00000089280	chromatin interactions
ENSG00000256364	chromatin interactions
ENSG00000088986	chromatin interactions
ENSG00000248008	chromatin interactions
ENSG00000157837	chromatin interactions
ENSG00000167272	chromatin interactions
ENSG00000175970	chromatin interactions
ENSG00000122971	chromatin interactions
ENSG00000241388	chromatin interactions
ENSG00000272214	chromatin interactions
ENSG00000175505	chromatin interactions
ENSG00000110917	chromatin interactions
ENSG00000265455	chromatin interactions
ENSG00000256569	chromatin interactions

Extended variants
information (count: 846 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:846 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2948150	chr12:121161589-121161590	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs191812990	chr12:121161636-121161637	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs548675682	chr12:121161699-121161700	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs182730693	chr12:121161709-121161710	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs551420720	chr12:121161722-121161723	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs56178989	chr12:121161723-121161724	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs533690686	chr12:121161738-121161739	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs547020849	chr12:121161759-121161760	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs143928486	chr12:121161785-121161786	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs529471515	chr12:121161809-121161810	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs11065226	chr12:121161853-121161854	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs374132791	chr12:121161936-121161937	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs569022940	chr12:121162020-121162021	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs146873228	chr12:121162114-121162115	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs557732950	chr12:121162118-121162119	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs377098443	chr12:121162180-121162181	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs534715537	chr12:121162196-121162197	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs534188055	chr12:121162213-121162214	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs553811844	chr12:121162340-121162341	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs573864628	chr12:121162366-121162367	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs658521	chr12:121162414-121162415	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs201500543	chr12:121162469-121162470	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs73409958	chr12:121162548-121162549	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs377046783	chr12:121162556-121162557	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs545026545	chr12:121162615-121162616	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs2239758	chr12:121162637-121162638	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs531482856	chr12:121162680-121162681	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs116568642	chr12:121162688-121162689	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs183986112	chr12:121162704-121162705	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs11065227	chr12:121162768-121162769	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs11065228	chr12:121162771-121162772	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs376049439	chr12:121162799-121162800	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs188468346	chr12:121162842-121162843	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs2948149	chr12:121162854-121162855	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs371464506	chr12:121162867-121162868	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs77574237	chr12:121162873-121162874	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs2239759	chr12:121162882-121162883	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs531700452	chr12:121162918-121162919	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs551623337	chr12:121162931-121162932	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs571693540	chr12:121162941-121162942	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs3021338	chr12:121162989-121162990	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs554102607	chr12:121162995-121162996	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs116877397	chr12:121162996-121162997	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs376565048	chr12:121163002-121163003	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs115500263	chr12:121163005-121163006	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs78473839	chr12:121163051-121163052	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs544462657	chr12:121163076-121163077	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs576346770	chr12:121163107-121163108	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs538140243	chr12:121163145-121163146	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs554891081	chr12:121163194-121163195	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Cancer	16751803	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16397240	CNVD
Breast cancer	17133270	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chordoma	18071362	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:1179 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121149800-121162800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:121150000-121163000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr12:121150400-121161600	Strong transcription	HUES48 Cell Line	embryonic stem cell
4	chr12:121150400-121163200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:121150800-121162400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
6	chr12:121150800-121162400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr12:121151000-121161800	Strong transcription	HUES6 Cell Line	embryonic stem cell
8	chr12:121151000-121161800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr12:121151000-121162200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:121151000-121163000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr12:121151200-121161600	Strong transcription	Ovary	ovary
12	chr12:121151200-121161800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr12:121151200-121162000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr12:121151200-121162200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr12:121151200-121162200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr12:121151200-121162200	Strong transcription	Brain Anterior Caudate	brain
17	chr12:121151200-121162200	Strong transcription	Fetal Thymus	thymus
18	chr12:121151200-121162400	Strong transcription	Fetal Muscle Trunk	muscle
19	chr12:121151200-121162600	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr12:121151200-121162600	Strong transcription	Fetal Stomach	stomach
21	chr12:121151200-121163000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr12:121151400-121163600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr12:121151800-121162200	Strong transcription	Left Ventricle	heart
24	chr12:121151800-121162400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr12:121151800-121162600	Strong transcription	Fetal Lung	lung
26	chr12:121151800-121162600	Strong transcription	Placenta	Placenta
27	chr12:121152000-121161600	Strong transcription	Brain Germinal Matrix	brain
28	chr12:121152000-121161600	Strong transcription	Colon Smooth Muscle	Colon
29	chr12:121152200-121161600	Strong transcription	Thymus	Thymus
30	chr12:121152200-121161600	Strong transcription	Dnd41	blood
31	chr12:121152200-121162000	Strong transcription	Cortex derived primary cultured neurospheres	brain
32	chr12:121152200-121162200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr12:121152400-121161600	Strong transcription	Primary T cells from cord blood	blood
34	chr12:121152400-121161600	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr12:121153800-121161600	Strong transcription	Fetal Brain Female	brain
36	chr12:121155000-121162600	Weak transcription	Fetal Heart	heart
37	chr12:121157200-121162800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr12:121157600-121163000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr12:121158000-121161600	Strong transcription	Rectal Mucosa Donor 29	rectum
40	chr12:121158200-121162600	Weak transcription	Fetal Brain Male	brain
41	chr12:121158200-121163000	Weak transcription	Stomach Mucosa	stomach
42	chr12:121158400-121162600	Strong transcription	A549	lung
43	chr12:121158400-121163200	Weak transcription	Psoas Muscle	Psoas
44	chr12:121158400-121163600	Weak transcription	Small Intestine	intestine
45	chr12:121158600-121162200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr12:121158600-121163000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr12:121158800-121161600	Strong transcription	Primary neutrophils fromperipheralblood	blood
48	chr12:121158800-121161600	Strong transcription	NHLF	lung
49	chr12:121158800-121161800	Strong transcription	NH-A	brain
50	chr12:121159000-121161800	Strong transcription	Muscle Satellite Cultured Cells	--

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