Variant report

Variant	rs7025395
Chromosome Location	chr9:96927816-96927817
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr9:96926954-96929565	NB4	blood:	n/a	chr9:96928223-96928236 chr9:96928225-96928234 chr9:96928224-96928235 chr9:96928893-96928902 chr9:96928955-96928965 chr9:96928225-96928234
2	ELF1	chr9:96927765-96929614	MCF-7	breast:	n/a	chr9:96928724-96928733 chr9:96928596-96928605 chr9:96928678-96928687 chr9:96928494-96928506
3	ELF1	chr9:96927762-96928530	MCF-7	breast:	n/a	chr9:96928494-96928506
4	RCOR1	chr9:96927755-96929603	Hela-S3	cervix:	n/a	n/a
5	MYC	chr9:96927481-96929683	K562	blood:	n/a	chr9:96928223-96928236 chr9:96928225-96928234 chr9:96928224-96928235 chr9:96928893-96928902 chr9:96928955-96928965 chr9:96928225-96928234
6	POLR2A	chr9:96927195-96930723	GM12891	blood:	n/a	n/a
7	REST	chr9:96927709-96929745	H1-neurons	neurons:	n/a	chr9:96928201-96928214 chr9:96928114-96928134 chr9:96928588-96928601 chr9:96928118-96928131 chr9:96928201-96928214 chr9:96929437-96929444 chr9:96928591-96928604
8	ZNF143	chr9:96927800-96929548	K562	blood:	n/a	chr9:96929269-96929287 chr9:96929064-96929074 chr9:96928784-96928802 chr9:96928490-96928500 chr9:96928193-96928211 chr9:96928926-96928944
9	HCFC1	chr9:96927547-96930818	Hela-S3	cervix:	n/a	n/a
10	E2F6	chr9:96927798-96929595	K562	blood:	n/a	chr9:96928382-96928392 chr9:96929119-96929128 chr9:96928931-96928943 chr9:96928190-96928200 chr9:96928490-96928500 chr9:96928579-96928591 chr9:96929117-96929126 chr9:96929064-96929074 chr9:96928907-96928917
11	TBL1XR1	chr9:96927576-96929645	GM12878	blood:	n/a	n/a
12	BHLHE40	chr9:96927561-96929947	K562	blood:	n/a	chr9:96928375-96928391
13	MXI1	chr9:96927604-96929899	GM12878	blood:	n/a	n/a
14	MAX	chr9:96927739-96929685	HepG2	liver:	n/a	chr9:96928223-96928236 chr9:96928225-96928234 chr9:96928224-96928235 chr9:96928893-96928902 chr9:96928955-96928965 chr9:96928225-96928234
15	MXI1	chr9:96927530-96929674	HepG2	liver:	n/a	n/a
16	POLR2A	chr9:96927811-96929876	PANC-1	pancreas:	n/a	n/a
17	RCOR1	chr9:96927517-96929965	IMR90	lung:	n/a	n/a
18	NFIC	chr9:96927743-96928390	HepG2	liver:	n/a	n/a
19	CREB1	chr9:96927815-96929745	HepG2	liver:	n/a	chr9:96929116-96929129
20	REST	chr9:96927567-96929902	A549	lung:	n/a	chr9:96928201-96928214 chr9:96928114-96928134 chr9:96928588-96928601 chr9:96928118-96928131 chr9:96928201-96928214 chr9:96929437-96929444 chr9:96928591-96928604
21	POLR2A	chr9:96927597-96929865	K562	blood:	n/a	n/a
22	MYC	chr9:96927045-96929775	K562	blood:	n/a	chr9:96928223-96928236 chr9:96928225-96928234 chr9:96928224-96928235 chr9:96928893-96928902 chr9:96928955-96928965 chr9:96928225-96928234
23	CHD2	chr9:96927715-96929581	H1-hESC	embryonic stem cell:	n/a	chr9:96928368-96928378 chr9:96928195-96928205
24	E2F6	chr9:96927712-96929670	A549	lung:	n/a	chr9:96928382-96928392 chr9:96929119-96929128 chr9:96928931-96928943 chr9:96928190-96928200 chr9:96928490-96928500 chr9:96928579-96928591 chr9:96929117-96929126 chr9:96929064-96929074 chr9:96928907-96928917
25	POLR2A	chr9:96927469-96931319	HepG2	liver:	n/a	n/a
26	MAX	chr9:96927756-96929640	MCF-7	breast:	n/a	chr9:96928223-96928236 chr9:96928225-96928234 chr9:96928224-96928235 chr9:96928893-96928902 chr9:96928955-96928965 chr9:96928225-96928234
27	PML	chr9:96927726-96929683	K562	blood:	n/a	n/a
28	MXI1	chr9:96927667-96931400	IMR90	lung:	n/a	n/a
29	TCF12	chr9:96927758-96929754	ECC-1	luminal epithelium:	n/a	n/a
30	JUN	chr9:96926810-96930763	K562	blood:	n/a	chr9:96929118-96929127 chr9:96929117-96929130 chr9:96928343-96928352 chr9:96928198-96928207 chr9:96928193-96928202
31	ELK4	chr9:96927433-96928416	Hela-S3	cervix:	n/a	n/a
32	CBX3	chr9:96927804-96928288	K562	blood:	n/a	n/a
33	RELA	chr9:96927650-96929578	GM18951	blood:	n/a	chr9:96928621-96928630 chr9:96928621-96928630
34	POLR2A	chr9:96927790-96929859	U87	brain:	n/a	n/a
35	SP1	chr9:96927736-96929688	HCT-116	colon:	n/a	chr9:96928197-96928206 chr9:96928195-96928207 chr9:96928992-96929006 chr9:96928960-96928972 chr9:96929485-96929498 chr9:96928882-96928891 chr9:96929352-96929366 chr9:96928881-96928892 chr9:96928881-96928893 chr9:96928961-96928970 chr9:96929356-96929365 chr9:96928882-96928892 chr9:96928196-96928205 chr9:96928196-96928205 chr9:96928992-96929001 chr9:96928960-96928972 chr9:96928195-96928207 chr9:96928881-96928893 chr9:96928997-96929011
36	POLR2A	chr9:96927784-96929929	U87	brain:	n/a	n/a
37	HCFC1	chr9:96927611-96929643	K562	blood:	n/a	n/a
38	RCOR1	chr9:96927739-96929545	HepG2	liver:	n/a	n/a
39	USF2	chr9:96927689-96929447	GM12878	blood:	n/a	chr9:96928375-96928391 chr9:96928223-96928234
40	POLR2A	chr9:96927701-96929906	HepG2	liver:	n/a	n/a
41	MAX	chr9:96927656-96930023	A549	lung:	n/a	chr9:96928223-96928236 chr9:96928225-96928234 chr9:96928224-96928235 chr9:96928893-96928902 chr9:96928955-96928965 chr9:96928225-96928234
42	CHD2	chr9:96927677-96929583	K562	blood:	n/a	chr9:96928368-96928378 chr9:96928195-96928205
43	POLR2A	chr9:96927805-96930152	IMR90	lung:	n/a	n/a
44	TBL1XR1	chr9:96927669-96930574	K562	blood:	n/a	n/a
45	RCOR1	chr9:96927799-96928419	K562	blood:	n/a	n/a
46	POLR2A	chr9:96927084-96929864	K562	blood:	n/a	n/a
47	SP1	chr9:96927787-96929382	K562	blood:	n/a	chr9:96928197-96928206 chr9:96928195-96928207 chr9:96928992-96929006 chr9:96928960-96928972 chr9:96928882-96928891 chr9:96929352-96929366 chr9:96928881-96928892 chr9:96928881-96928893 chr9:96928961-96928970 chr9:96929356-96929365 chr9:96928882-96928892 chr9:96928196-96928205 chr9:96928196-96928205 chr9:96928992-96929001 chr9:96928960-96928972 chr9:96928195-96928207 chr9:96928881-96928893 chr9:96928997-96929011
48	E2F6	chr9:96927769-96927945	K562	blood:	n/a	n/a
49	POLR2A	chr9:96927572-96931237	K562	blood:	n/a	n/a
50	MAX	chr9:96927753-96929642	A549	lung:	n/a	chr9:96928223-96928236 chr9:96928225-96928234 chr9:96928224-96928235 chr9:96928893-96928902 chr9:96928955-96928965 chr9:96928225-96928234

No.	Distal block	Cell Line	Cell type
1	chr9:96927010..96929542-chr9:97400485..97402088,2	MCF-7	breast:
2	chr9:96911236..96913938-chr9:96926952..96928493,2	MCF-7	breast:
3	chr9:96337657..96339290-chr9:96927321..96930180,2	K562	blood:
4	chr9:96790341..96794271-chr9:96926817..96931236,5	K562	blood:
5	chr9:96791956..96794354-chr9:96926207..96931491,6	MCF-7	breast:
6	chr15:91497959..91498724-chr9:96927748..96928648,2	Hela-S3	cervix:
7	chr9:96790823..96795467-chr9:96925835..96932235,7	K562	blood:
8	chr9:96845151..96850974-chr9:96927067..96931575,8	K562	blood:
9	chr9:96861428..96863422-chr9:96927160..96928732,2	MCF-7	breast:
10	chr9:96927406..96930148-chr9:97007636..97010398,2	MCF-7	breast:
11	chr9:96905663..96907940-chr9:96926715..96928230,2	K562	blood:
12	chr9:96792323..96794528-chr9:96927672..96930924,4	MCF-7	breast:
13	chr9:96845151..96851769-chr9:96927067..96931565,10	K562	blood:

Variant related genes	Relation type
ENSG00000269946	TF binding region
ENSG00000166965	Chromatin interaction
ENSG00000158079	Chromatin interaction
ENSG00000252723	Chromatin interaction
ENSG00000197724	Chromatin interaction
ENSG00000258384	Chromatin interaction
ENSG00000165140	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10512230	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10739971	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10761320	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10761323	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10761324	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10821303	0.83[CHB][hapmap];0.82[JPT][hapmap]
rs10821305	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10821306	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10821310	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10821311	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10821316	0.86[EUR][1000 genomes]
rs10821317	0.95[CEU][hapmap];0.80[CHB][hapmap];0.86[EUR][1000 genomes]
rs10993072	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10993073	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10993074	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10993075	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10993095	0.96[CEU][hapmap];0.91[CHB][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10993096	0.95[CEU][hapmap];0.82[CHB][hapmap];0.86[EUR][1000 genomes]
rs10993097	0.86[EUR][1000 genomes]
rs10993100	0.86[EUR][1000 genomes]
rs11790972	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12004367	0.96[CEU][hapmap];0.85[EUR][1000 genomes]
rs12551019	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13293512	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2039012	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34181781	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs36030019	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7030004	0.96[CEU][hapmap];0.82[CHB][hapmap];0.86[EUR][1000 genomes]
rs7865876	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7866254	0.82[CHB][hapmap]
rs9409498	0.96[CEU][hapmap];0.81[CHB][hapmap]
rs9409706	0.96[CEU][hapmap];0.86[EUR][1000 genomes]
rs9409709	0.96[CEU][hapmap];0.82[CHB][hapmap]
rs9409710	0.96[CEU][hapmap];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482457	chr9:96813852-96996170	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	217 gene(s)	inside rSNPs	diseases
2	nsv831655	chr9:96834042-97042009	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	218 gene(s)	inside rSNPs	diseases
3	esv3435412	chr9:96924949-96935312	Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
4	esv3323629	chr9:96927556-96930104	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:96923200-96928000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr9:96925000-96928000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr9:96926000-96928400	Enhancers	Primary hematopoietic stem cells	blood
4	chr9:96927000-96928000	Enhancers	HepG2	liver
5	chr9:96927000-96928200	Flanking Active TSS	Primary T cells from cord blood	blood
6	chr9:96927000-96928200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr9:96927400-96928000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr9:96927400-96928000	Enhancers	Colon Smooth Muscle	Colon
9	chr9:96927400-96928200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
10	chr9:96927400-96928200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr9:96927400-96928200	Flanking Active TSS	GM12878-XiMat	blood
12	chr9:96927400-96929200	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
13	chr9:96927600-96928000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr9:96927600-96928000	Flanking Active TSS	Duodenum Mucosa	Duodenum
15	chr9:96927600-96928000	Enhancers	NHEK	skin
16	chr9:96927600-96928200	Flanking Active TSS	A549	lung
17	chr9:96927600-96928200	Flanking Active TSS	Dnd41	blood
18	chr9:96927600-96928200	Flanking Active TSS	K562	blood
19	chr9:96927800-96928000	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr9:96927800-96928000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr9:96927800-96928000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr9:96927800-96928000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr9:96927800-96928000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr9:96927800-96928000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr9:96927800-96928000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr9:96927800-96928000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr9:96927800-96928000	Flanking Active TSS	Brain Cingulate Gyrus	brain
28	chr9:96927800-96928000	Flanking Active TSS	Brain Hippocampus Middle	brain
29	chr9:96927800-96928000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr9:96927800-96928000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr9:96927800-96928000	Enhancers	Esophagus	oesophagus
32	chr9:96927800-96928000	Flanking Active TSS	Fetal Heart	heart
33	chr9:96927800-96928000	Enhancers	Fetal Lung	lung
34	chr9:96927800-96928000	Enhancers	Fetal Muscle Leg	muscle
35	chr9:96927800-96928000	Enhancers	Fetal Stomach	stomach
36	chr9:96927800-96928000	Enhancers	Left Ventricle	heart
37	chr9:96927800-96928000	Enhancers	Pancreas	Pancrea
38	chr9:96927800-96928000	Enhancers	Placenta Amnion	Placenta Amnion
39	chr9:96927800-96928000	Flanking Active TSS	Psoas Muscle	Psoas
40	chr9:96927800-96928000	Flanking Active TSS	Right Atrium	heart
41	chr9:96927800-96928000	Enhancers	Right Ventricle	heart
42	chr9:96927800-96928000	Enhancers	Sigmoid Colon	Sigmoid Colon
43	chr9:96927800-96928000	Flanking Active TSS	Small Intestine	intestine
44	chr9:96927800-96928000	Enhancers	Stomach Mucosa	stomach
45	chr9:96927800-96928000	Enhancers	Spleen	Spleen
46	chr9:96927800-96928000	Flanking Active TSS	HSMM	muscle
47	chr9:96927800-96928000	Enhancers	HUVEC	blood vessel
48	chr9:96927800-96928200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr9:96927800-96928200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr9:96927800-96928200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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