Variant report

Variant	rs9366596
Chromosome Location	chr6:25027058-25027059
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	CTCF	chr6:25027038-25027245	GM19240	blood:	n/a	chr6:25027089-25027107 chr6:25027090-25027106 chr6:25027084-25027105
2	CTCF	chr6:25027020-25027170	AG09309	skin:	n/a	chr6:25027089-25027107 chr6:25027090-25027106 chr6:25027084-25027105
3	CTCF	chr6:25027026-25027228	GM12878	blood:	n/a	chr6:25027089-25027107 chr6:25027090-25027106 chr6:25027084-25027105
4	CTCF	chr6:25027043-25027218	GM19239	blood:	n/a	chr6:25027089-25027107 chr6:25027090-25027106 chr6:25027084-25027105
5	RAD21	chr6:25026963-25027198	SK-N-SH_RA	brain:	n/a	chr6:25027087-25027106
6	CTCF	chr6:25027040-25027190	GM12867	blood:	n/a	chr6:25027089-25027107 chr6:25027090-25027106 chr6:25027084-25027105
7	CTCF	chr6:25026934-25027940	GM12878	blood:	n/a	chr6:25027089-25027107 chr6:25027554-25027567 chr6:25027788-25027801 chr6:25027090-25027106 chr6:25027571-25027584 chr6:25027084-25027105
8	CTCF	chr6:25027000-25027150	HMEC	breast:	n/a	chr6:25027089-25027107 chr6:25027090-25027106 chr6:25027084-25027105
9	RAD21	chr6:25026983-25027739	H1-hESC	embryonic stem cell:	n/a	chr6:25027087-25027106 chr6:25027553-25027566 chr6:25027490-25027499 chr6:25027552-25027564
10	CTCF	chr6:25026980-25027130	GM12873	blood:	n/a	chr6:25027089-25027107 chr6:25027090-25027106 chr6:25027084-25027105
11	CTCF	chr6:25027053-25027186	MCF-7	breast:	n/a	chr6:25027089-25027107 chr6:25027090-25027106 chr6:25027084-25027105
12	CTCF	chr6:25027041-25027236	GM19238	blood:	n/a	chr6:25027089-25027107 chr6:25027090-25027106 chr6:25027084-25027105
13	CTCF	chr6:25027052-25027203	MCF-7	breast:	n/a	chr6:25027089-25027107 chr6:25027090-25027106 chr6:25027084-25027105
14	CTCF	chr6:25027042-25027216	GM12892	blood:	n/a	chr6:25027089-25027107 chr6:25027090-25027106 chr6:25027084-25027105
15	CTCF	chr6:25027042-25027198	GM12891	blood:	n/a	chr6:25027089-25027107 chr6:25027090-25027106 chr6:25027084-25027105
16	MAFK	chr6:25026940-25027301	H1-hESC	embryonic stem cell:	n/a	chr6:25027186-25027197 chr6:25027186-25027197 chr6:25027187-25027198 chr6:25027222-25027232 chr6:25027185-25027199 chr6:25027186-25027201 chr6:25027031-25027046 chr6:25027186-25027202
17	CTCF	chr6:25027020-25027170	HRE	kidney:	n/a	chr6:25027089-25027107 chr6:25027090-25027106 chr6:25027084-25027105
18	RAD21	chr6:25026861-25027224	SK-N-SH_RA	brain:	n/a	chr6:25027087-25027106
19	CTCF	chr6:25027031-25027191	Hela-S3	cervix:	n/a	chr6:25027089-25027107 chr6:25027090-25027106 chr6:25027084-25027105
20	CTCF	chr6:25027053-25027207	MCF-7	breast:	n/a	chr6:25027089-25027107 chr6:25027090-25027106 chr6:25027084-25027105
21	CTCF	chr6:25027052-25027199	MCF-7	breast:	n/a	chr6:25027089-25027107 chr6:25027090-25027106 chr6:25027084-25027105
22	CTCF	chr6:25027020-25027170	WERI-Rb-1	eye:	n/a	chr6:25027089-25027107 chr6:25027090-25027106 chr6:25027084-25027105
23	SMC3	chr6:25026950-25027221	Hela-S3	cervix:	n/a	chr6:25027091-25027105
24	CTCF	chr6:25027020-25027170	SAEC	small airway:	n/a	chr6:25027089-25027107 chr6:25027090-25027106 chr6:25027084-25027105
25	CTCF	chr6:25027026-25027177	LNCaP	prostate:	n/a	chr6:25027089-25027107 chr6:25027090-25027106 chr6:25027084-25027105
26	RAD21	chr6:25026948-25027192	Hela-S3	cervix:	n/a	chr6:25027087-25027106
27	RAD21	chr6:25026821-25027340	H1-hESC	embryonic stem cell:	n/a	chr6:25027087-25027106
28	CTCF	chr6:25027020-25027170	GM12864	blood:	n/a	chr6:25027089-25027107 chr6:25027090-25027106 chr6:25027084-25027105
29	STAT3	chr6:25026673-25027092	MCF10A-Er-Src	breast:	n/a	n/a
30	CTCF	chr6:25026980-25027130	SK-N-SH_RA	brain:	n/a	chr6:25027089-25027107 chr6:25027090-25027106 chr6:25027084-25027105
31	NFYB	chr6:25026956-25027156	GM12878	blood:	n/a	n/a
32	CTCF	chr6:25027040-25027190	HEK293	kidney:	n/a	chr6:25027089-25027107 chr6:25027090-25027106 chr6:25027084-25027105
33	CTCF	chr6:25027020-25027170	HEK293	kidney:	n/a	chr6:25027089-25027107 chr6:25027090-25027106 chr6:25027084-25027105
34	CTCF	chr6:25027052-25027131	LNCaP	prostate:	n/a	chr6:25027089-25027107 chr6:25027090-25027106 chr6:25027084-25027105
35	CTCF	chr6:25026980-25027130	HPF	lung:	n/a	chr6:25027089-25027107 chr6:25027090-25027106 chr6:25027084-25027105
36	CTCF	chr6:25027020-25027170	HPF	lung:	n/a	chr6:25027089-25027107 chr6:25027090-25027106 chr6:25027084-25027105
37	CTCF	chr6:25027041-25027083	Pancreas_OC	pancreas:	n/a	n/a
38	CTCF	chr6:25027040-25027190	GM12873	blood:	n/a	chr6:25027089-25027107 chr6:25027090-25027106 chr6:25027084-25027105
39	CTCF	chr6:25027000-25027150	HPAF	blood vessel:	n/a	chr6:25027089-25027107 chr6:25027090-25027106 chr6:25027084-25027105
40	SMC3	chr6:25027011-25027958	GM12878	blood:	n/a	chr6:25027773-25027781 chr6:25027091-25027105
41	CTCF	chr6:25027000-25027150	HRPEpiC	eye:	n/a	chr6:25027089-25027107 chr6:25027090-25027106 chr6:25027084-25027105
42	CTCF	chr6:25027020-25027170	AG09319	gingival:	n/a	chr6:25027089-25027107 chr6:25027090-25027106 chr6:25027084-25027105
43	CTCF	chr6:25026960-25027110	GM12874	blood:	n/a	chr6:25027089-25027107 chr6:25027090-25027106 chr6:25027084-25027105
44	CTCF	chr6:25027000-25027150	GM12864	blood:	n/a	chr6:25027089-25027107 chr6:25027090-25027106 chr6:25027084-25027105
45	CTCF	chr6:25027020-25027170	GM12869	blood:	n/a	chr6:25027089-25027107 chr6:25027090-25027106 chr6:25027084-25027105
46	CTCF	chr6:25026980-25027130	GM06990	blood:	n/a	chr6:25027089-25027107 chr6:25027090-25027106 chr6:25027084-25027105
47	CTCF	chr6:25027026-25027211	MCF-7	breast:	n/a	chr6:25027089-25027107 chr6:25027090-25027106 chr6:25027084-25027105

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:25025835..25027765-chr6:25032944..25034504,2	K562	blood:
2	chr6:25024268..25027647-chr6:25028842..25032564,4	K562	blood:

Variant related genes	Relation type
ASS1P1	TF binding region
ENSG00000244618	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs441342	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6906443	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6907293	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6929342	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6929348	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6929749	0.91[CEU][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6934141	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9295644	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9348655	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9348656	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9348657	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9348658	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9348659	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9356953	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9356954	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9356955	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9356956	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9356957	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9356958	0.84[CEU][hapmap];0.81[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9358823	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9358824	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9358825	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9358826	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9366595	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9366597	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9366598	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9366599	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9379706	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9379707	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9393607	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9393608	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9467378	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022966	chr6:24763776-25154212	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv538160	chr6:24763776-25154212	Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv883482	chr6:24926730-25035920	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv1023989	chr6:24930362-25285679	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
5	nsv1030634	chr6:24938277-25040161	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv830610	chr6:24951741-25124239	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:25011200-25035600	Weak transcription	Spleen	Spleen
2	chr6:25018200-25027400	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr6:25024600-25027200	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr6:25024600-25027600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr6:25024800-25027200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:25024800-25027400	Enhancers	Primary hematopoietic stem cells	blood
7	chr6:25024800-25027600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr6:25024800-25027600	Enhancers	HMEC	breast
9	chr6:25024800-25028200	Enhancers	NHEK	skin
10	chr6:25024800-25028400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr6:25025000-25027400	Enhancers	Primary T cells from cord blood	blood
12	chr6:25025000-25027400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr6:25025000-25028000	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr6:25025000-25028600	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr6:25025200-25028600	Enhancers	Fetal Thymus	thymus
16	chr6:25025400-25027200	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr6:25025400-25028400	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr6:25025600-25027800	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr6:25025600-25028000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr6:25026000-25027200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr6:25026000-25027400	Enhancers	Primary B cells from peripheral blood	blood
22	chr6:25026000-25027800	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr6:25026000-25028200	Enhancers	Fetal Lung	lung
24	chr6:25026200-25027400	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr6:25026200-25027400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr6:25026200-25027400	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr6:25026200-25028000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr6:25026400-25027400	Enhancers	Primary B cells from cord blood	blood
29	chr6:25026400-25028000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr6:25026400-25033600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr6:25026600-25027600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr6:25026800-25027400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr6:25026800-25027400	Enhancers	Thymus	Thymus
34	chr6:25026800-25028200	Flanking Active TSS	GM12878-XiMat	blood
35	chr6:25027000-25027200	Enhancers	Esophagus	oesophagus
36	chr6:25027000-25027400	Enhancers	Primary T cells fromperipheralblood	blood
37	chr6:25027000-25027400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr6:25027000-25027400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr6:25027000-25027400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
40	chr6:25027000-25028200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr6:25027000-25028200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
42	chr6:25027000-25028200	Flanking Active TSS	Dnd41	blood
43	chr6:25027000-25028400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
44	chr6:25027000-25028600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
45	chr6:25027000-25028600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--

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