Variant report

Variant	esv3438320
Chromosome Location	chr9:95856656-95859504
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:654)
CpG islands
(count:612)
Chromatin interactive
region (count:26)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:654 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr9:95857524-95857895	HepG2	liver:	n/a	n/a
2	ATF1	chr9:95857731-95858306	K562	blood:	n/a	n/a
3	ATF2	chr9:95856942-95857427	GM12878	blood:	n/a	n/a
4	ATF2	chr9:95856928-95857923	GM12878	blood:	n/a	n/a
5	ATF3	chr9:95857777-95858168	K562	blood:	n/a	chr9:95858141-95858150
6	BACH1	chr9:95858988-95859223	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr9:95858007-95858119	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr9:95857605-95857790	H1-hESC	embryonic stem cell:	n/a	n/a
9	BCL11A	chr9:95857007-95857279	GM12878	blood:	n/a	n/a
10	BCL3	chr9:95857592-95858091	GM12878	blood:	n/a	chr9:95857949-95857962
11	BCLAF1	chr9:95857012-95858021	GM12878	blood:	n/a	chr9:95857949-95857962
12	BCLAF1	chr9:95856898-95857416	GM12878	blood:	n/a	n/a
13	BCLAF1	chr9:95857478-95858171	GM12878	blood:	n/a	chr9:95858137-95858150 chr9:95858119-95858128 chr9:95857949-95857962
14	BHLHE40	chr9:95857060-95858089	K562	blood:	n/a	chr9:95857165-95857181
15	BHLHE40	chr9:95858625-95858806	K562	blood:	n/a	n/a
16	BHLHE40	chr9:95856998-95858083	GM12878	blood:	n/a	chr9:95857165-95857181
17	BRCA1	chr9:95857912-95857923	HepG2	liver:	n/a	n/a
18	BRCA1	chr9:95857704-95858049	Hela-S3	cervix:	n/a	n/a
19	BRCA1	chr9:95857105-95857613	GM12878	blood:	n/a	n/a
20	CBX3	chr9:95857397-95858124	K562	blood:	n/a	n/a
21	CCNT2	chr9:95857604-95858936	K562	blood:	n/a	chr9:95858424-95858433 chr9:95858274-95858283 chr9:95858404-95858413 chr9:95858159-95858168 chr9:95858094-95858103 chr9:95858210-95858219 chr9:95858141-95858150
22	CEBPB	chr9:95857695-95858014	Hela-S3	cervix:	n/a	n/a
23	CEBPD	chr9:95857602-95857872	HepG2	liver:	n/a	n/a
24	CEBPD	chr9:95858407-95858829	HepG2	liver:	n/a	n/a
25	CEBPD	chr9:95857545-95857952	HepG2	liver:	n/a	n/a
26	CHD1	chr9:95858708-95858808	GM12878	blood:	n/a	n/a
27	CHD1	chr9:95856862-95857801	GM12878	blood:	n/a	n/a
28	CHD2	chr9:95857509-95858087	K562	blood:	n/a	n/a
29	CHD2	chr9:95858880-95859064	GM12878	blood:	n/a	n/a
30	CHD2	chr9:95857650-95858016	H1-hESC	embryonic stem cell:	n/a	n/a
31	CHD2	chr9:95856939-95858098	GM12878	blood:	n/a	n/a
32	CHD2	chr9:95858436-95858636	H1-hESC	embryonic stem cell:	n/a	n/a
33	CHD2	chr9:95857793-95858059	HepG2	liver:	n/a	n/a
34	CHD2	chr9:95857569-95858867	Hela-S3	cervix:	n/a	n/a
35	CHD2	chr9:95858307-95858624	HepG2	liver:	n/a	n/a
36	CREB1	chr9:95856893-95858595	GM12878	blood:	n/a	n/a
37	CREB1	chr9:95857596-95858506	H1-hESC	embryonic stem cell:	n/a	n/a
38	CREB1	chr9:95857757-95858747	H1-hESC	embryonic stem cell:	n/a	n/a
39	CREB1	chr9:95857737-95858336	ECC-1	luminal epithelium:	n/a	n/a
40	CREB1	chr9:95857512-95858614	K562	blood:	n/a	n/a
41	CREB1	chr9:95855659-95856779	GM12878	blood:	n/a	chr9:95856568-95856581
42	CREB1	chr9:95857519-95858854	A549	lung:	n/a	n/a
43	CREB1	chr9:95857183-95859262	HepG2	liver:	n/a	n/a
44	CTCF	chr9:95858260-95858410	AG04449	skin:	n/a	chr9:95858268-95858281
45	CTCF	chr9:95858561-95858665	GM19239	blood:	n/a	n/a
46	CTCF	chr9:95858705-95858710	Pancreas_OC	pancreas:	n/a	n/a
47	CTCF	chr9:95858458-95858576	Spleen_OC	spleen:	n/a	n/a
48	CTCF	chr9:95858420-95858570	GM12865	blood:	n/a	n/a
49	CTCF	chr9:95858461-95858784	K562	blood:	n/a	n/a
50	CTCF	chr9:95858528-95858702	Pancreas_OC	pancreas:	n/a	n/a

(count:612 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:95858257-95858307	Caco-2	colon:	n/a
2	chr9:95858233-95858283	HRE	kidney:	n/a
3	chr9:95858257-95858307	Caco-2	colon:	n/a
4	chr9:95858233-95858283	HRE	kidney:	n/a
5	chr9:95859131-95859181	NHDF-neo	bronchial:	n/a
6	chr9:95858233-95858283	GM12891	blood:	n/a
7	chr9:95857704-95857754	A549	lung:	n/a
8	chr9:95857704-95857754	HRPEpiC	eye:	n/a
9	chr9:95857704-95857754	HRE	kidney:	n/a
10	chr9:95859121-95859171	SK-N-MC	brain:	n/a
11	chr9:95858257-95858307	NB4	blood:	n/a
12	chr9:95859189-95859239	GM12891	blood:	n/a
13	chr9:95859189-95859239	HEEpiC	esophagus:	n/a
14	chr9:95859121-95859171	HL-60	blood:	n/a
15	chr9:95859189-95859239	AG04449	skin:	fetal
16	chr9:95858257-95858307	GM06990	blood:	n/a
17	chr9:95859121-95859171	PANC-1	pancreas:	n/a
18	chr9:95859189-95859239	HCT-116	colon:	n/a
19	chr9:95858233-95858283	HepG2	liver:	n/a
20	chr9:95858436-95858486	SKMC	muscle:	n/a
21	chr9:95859121-95859171	PrEC	prostate:	n/a
22	chr9:95859189-95859239	NHBE	bronchial:	n/a
23	chr9:95858257-95858307	A549	lung:	n/a
24	chr9:95858436-95858486	SK-N-MC	brain:	n/a
25	chr9:95857577-95857627	HIPEpiC	eye:	n/a
26	chr9:95857704-95857754	HCF	heart:	n/a
27	chr9:95859121-95859171	AG09309	skin:	n/a
28	chr9:95858257-95858307	U87	brain:	n/a
29	chr9:95858523-95858573	HNPCEpiC	eye:	n/a
30	chr9:95859121-95859171	HepG2	liver:	n/a
31	chr9:95857704-95857754	ovcar-3	ovarian:	n/a
32	chr9:95858436-95858486	SK-N-SH_RA	brain:	n/a
33	chr9:95859131-95859181	SAEC	small airway:	n/a
34	chr9:95859121-95859171	HRPEpiC	eye:	n/a
35	chr9:95858257-95858307	BE2_C	brain:	n/a
36	chr9:95858233-95858283	SK-N-MC	brain:	n/a
37	chr9:95858257-95858307	HIPEpiC	eye:	n/a
38	chr9:95858233-95858283	HRPEpiC	eye:	n/a
39	chr9:95857704-95857754	HPAEpiC	pulmonary alveolar:	n/a
40	chr9:95859121-95859171	SK-N-SH_RA	brain:	n/a
41	chr9:95858233-95858283	HCPEpiC	choroid plexus:	n/a
42	chr9:95859121-95859171	IMR90	lung:	fetal
43	chr9:95858523-95858573	SK-N-MC	brain:	n/a
44	chr9:95858257-95858307	SKMC	muscle:	n/a
45	chr9:95858523-95858573	T-47D	breast:	n/a
46	chr9:95857577-95857627	CMK	blood:	n/a
47	chr9:95858436-95858486	HCPEpiC	choroid plexus:	n/a
48	chr9:95857577-95857627	Hepatocyte	liver:	n/a
49	chr9:95858523-95858573	HEEpiC	esophagus:	n/a
50	chr9:95857704-95857754	U87	brain:	n/a

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:95856307..95858930-chr9:95945344..95947454,2	MCF-7	breast:
2	chr22:39715499..39716297-chr9:95857044..95857925,2	Hela-S3	cervix:
3	chr9:95855374..95857011-chr9:96211842..96214565,2	K562	blood:
4	chr9:95832455..95836206-chr9:95854622..95857563,3	K562	blood:
5	chr21:43430249..43430882-chr9:95858546..95859076,2	Hela-S3	cervix:
6	chr1:147806321..147807273-chr9:95857540..95858521,2	Hela-S3	cervix:
7	chr9:95857571..95862229-chr9:96211597..96216359,5	K562	blood:
8	chr9:95855064..95861522-chr9:95867449..95872462,10	MCF-7	breast:
9	chr20:52231451..52233410-chr9:95855807..95857476,2	MCF-7	breast:
10	chr9:95855552..95862102-chr9:95867626..95876894,17	K562	blood:
11	chr9:95856977..95859126-chr9:95888088..95890598,2	MCF-7	breast:
12	chr9:95782411..95784335-chr9:95855706..95857608,2	K562	blood:
13	chr9:95818697..95822651-chr9:95855885..95860349,6	MCF-7	breast:
14	chr9:95855662..95862507-chr9:95894736..95899302,16	MCF-7	breast:
15	chr9:95839549..95841573-chr9:95854278..95856660,2	MCF-7	breast:
16	chr9:95644477..95647026-chr9:95856409..95858869,2	MCF-7	breast:
17	chr9:95857275..95859572-chr9:95888374..95892185,3	MCF-7	breast:
18	chr9:95819521..95827100-chr9:95855273..95859349,14	K562	blood:
19	chr9:95816364..95826268-chr9:95852309..95863275,20	MCF-7	breast:
20	chr9:95856800..95859803-chr9:96212504..96215667,3	MCF-7	breast:
21	chr9:95819533..95824260-chr9:95855982..95859349,6	K562	blood:
22	chr17:37356128..37357052-chr9:95858189..95859122,2	NB4	blood:
23	chr9:95855712..95863110-chr9:95867626..95874665,14	K562	blood:
24	chr9:95858239..95860012-chr9:96214576..96216562,2	MCF-7	breast:
25	chr9:95856253..95862485-chr9:95892353..95899486,12	MCF-7	breast:
26	chr9:95856094..95858375-chr9:96337008..96340445,3	MCF-7	breast:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NINJ1-1	chr9:95857221-95857296	ENSG00000223446.1
2	lnc-NINJ1-1	chr9:95856723-95857296	NONHSAT133232
3	lnc-NINJ1-1	chr9:95857650-95857848	NONHSAT133232
4	lnc-NINJ1-1	chr9:95857650-95857811	ENSG00000223446.1
5	lnc-NINJ1-1	chr9:95857650-95857760	NONHSAT133229
6	lnc-NINJ1-1	chr9:95857507-95857848	NONHSAT133231

No data

Variant related genes	Relation type
C9orf89	TF binding region
ENSG00000223446	TF binding region
C9orf89	CpG island
ENSG00000223446	CpG island
ENSG00000226668	chromatin interactions
ENSG00000108298	chromatin interactions
ENSG00000165233	chromatin interactions
ENSG00000197724	chromatin interactions
ENSG00000131669	chromatin interactions
ENSG00000157303	chromatin interactions
ENSG00000100316	chromatin interactions
ENSG00000173276	chromatin interactions
ENSG00000188938	chromatin interactions
ENSG00000202408	chromatin interactions
ENSG00000165238	chromatin interactions
ENSG00000048828	chromatin interactions

Extended variants
information (count: 104 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:104 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6479452	chr9:95856686-95856687	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs578244669	chr9:95856723-95856724	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
3	rs539377081	chr9:95856756-95856757	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
4	rs554428096	chr9:95856791-95856792	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
5	rs147180924	chr9:95856792-95856793	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
6	rs543313900	chr9:95856843-95856844	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
7	rs116157289	chr9:95856883-95856884	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
8	rs146135897	chr9:95856908-95856909	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
9	rs140122026	chr9:95856909-95856910	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
10	rs143932242	chr9:95856936-95856937	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
11	rs532487845	chr9:95856939-95856940	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
12	rs544779047	chr9:95856940-95856941	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
13	rs144826377	chr9:95857039-95857040	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
14	rs527553585	chr9:95857042-95857043	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
15	rs115033184	chr9:95857050-95857051	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
16	rs79473108	chr9:95857081-95857082	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
17	rs531370591	chr9:95857134-95857135	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
18	rs148512826	chr9:95857135-95857136	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
19	rs78089936	chr9:95857150-95857151	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
20	rs370356563	chr9:95857253-95857254	Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
21	rs372491278	chr9:95857285-95857286	Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
22	rs117537380	chr9:95857325-95857326	Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
23	rs13288200	chr9:95857333-95857334	Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs566315732	chr9:95857347-95857348	Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
25	rs536538430	chr9:95857367-95857368	Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
26	rs57522741	chr9:95857381-95857382	Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
27	rs555269033	chr9:95857410-95857411	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
28	rs576346064	chr9:95857430-95857431	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
29	rs376868378	chr9:95857447-95857448	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
30	rs77458011	chr9:95857463-95857464	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
31	rs75391472	chr9:95857466-95857467	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
32	rs576093199	chr9:95857475-95857476	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
33	rs558552542	chr9:95857476-95857477	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
34	rs189554333	chr9:95857478-95857479	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
35	rs57521074	chr9:95857484-95857485	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
36	rs541138535	chr9:95857567-95857568	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
37	rs80246510	chr9:95857620-95857621	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
38	rs527527955	chr9:95857623-95857624	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
39	rs151063289	chr9:95857632-95857633	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
40	rs561201333	chr9:95857644-95857645	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
41	rs12378451	chr9:95857650-95857651	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs549749615	chr9:95857657-95857658	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
43	rs181058274	chr9:95857667-95857668	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
44	rs60982383	chr9:95857706-95857707	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs10821067	chr9:95857720-95857721	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs566117024	chr9:95857742-95857743	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
47	rs370830416	chr9:95857778-95857779	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
48	rs115249557	chr9:95857811-95857812	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
49	rs79333489	chr9:95857825-95857826	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
50	rs537349667	chr9:95857832-95857833	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Chordoma	18071362	CNVD
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
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Leukemia	18688285	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	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
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Bipolar disorder	18458673	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Biliary cancer	19435499	CNVD
small cell lung cancer	20016488	CNVD
Intracranial aneurysm	16715129	CNVD
Cardiac fibroma	18329553	CNVD
Mental retardation	21693067	CNVD
Breast cancer	17133270	CNVD
Basal cell nevus syndrome	21572526	CNVD
Mental retardation	19951919	CNVD
Retinoblastoma	22278416	CNVD
9q22.3 microdeletion syndrome	22283845	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Microcephaly	18830227	CNVD
overgrowth syndrome	16570072	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:515 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:95834400-95857400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr9:95840400-95857000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr9:95845200-95857200	Weak transcription	Small Intestine	intestine
4	chr9:95846400-95857000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr9:95848600-95857000	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr9:95849400-95857400	Weak transcription	Ovary	ovary
7	chr9:95852600-95856800	Enhancers	Primary B cells from peripheral blood	blood
8	chr9:95853400-95857000	Enhancers	Primary B cells from cord blood	blood
9	chr9:95853400-95857200	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr9:95853400-95857200	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr9:95853600-95856800	Enhancers	HepG2	liver
12	chr9:95853600-95857200	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr9:95853800-95857200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr9:95854000-95857000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr9:95854000-95857200	Enhancers	Primary T cells fromperipheralblood	blood
16	chr9:95854000-95857200	Enhancers	Spleen	Spleen
17	chr9:95854000-95857400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr9:95854000-95857400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr9:95854200-95857000	Weak transcription	A549	lung
20	chr9:95854200-95857200	Weak transcription	Gastric	stomach
21	chr9:95854400-95857200	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr9:95854400-95857400	Enhancers	Primary hematopoietic stem cells	blood
23	chr9:95854400-95857400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
24	chr9:95854400-95857400	Enhancers	Fetal Muscle Trunk	muscle
25	chr9:95854400-95857400	Enhancers	Fetal Muscle Leg	muscle
26	chr9:95854400-95857400	Enhancers	Placenta	Placenta
27	chr9:95854600-95857000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr9:95854600-95857200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr9:95854600-95857200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr9:95854600-95857200	Enhancers	Adipose Nuclei	Adipose
31	chr9:95854600-95857400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr9:95854600-95857400	Enhancers	Fetal Thymus	thymus
33	chr9:95854600-95857400	Weak transcription	NHDF-Ad	bronchial
34	chr9:95854600-95857800	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr9:95854800-95857000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr9:95854800-95857000	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr9:95854800-95857200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
38	chr9:95854800-95857200	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr9:95854800-95857200	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr9:95854800-95857200	Weak transcription	HMEC	breast
41	chr9:95854800-95857400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr9:95854800-95857400	Enhancers	Fetal Intestine Large	intestine
43	chr9:95854800-95857400	Weak transcription	NH-A	brain
44	chr9:95854800-95857800	Enhancers	Fetal Heart	heart
45	chr9:95855000-95857000	Enhancers	Primary neutrophils fromperipheralblood	blood
46	chr9:95855000-95857000	Enhancers	Colonic Mucosa	Colon
47	chr9:95855000-95857200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr9:95855000-95857200	Enhancers	Duodenum Mucosa	Duodenum
49	chr9:95855000-95857400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
50	chr9:95855000-95857400	Enhancers	Primary T killer naive cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links