Variant report

Variant	rs6601222
Chromosome Location	chr5:177591776-177591777
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	GTF2F1	chr5:177591187-177591944	H1-hESC	embryonic stem cell:	n/a	n/a
2	ZNF263	chr5:177591096-177591799	HEK293-T-REx	kidney:	n/a	n/a
3	SMC3	chr5:177590910-177591785	SK-N-SH	brain:	n/a	chr5:177591470-177591480 chr5:177591357-177591371
4	MAX	chr5:177591032-177591886	MCF-7	breast:	n/a	n/a
5	CTCF	chr5:177591640-177591790	GM06990	blood:	n/a	n/a
6	CTCF	chr5:177590862-177591991	HCT-116	colon:	n/a	chr5:177591355-177591373 chr5:177591357-177591370 chr5:177591356-177591372 chr5:177591167-177591180 chr5:177591350-177591371
7	SIN3A	chr5:177591176-177591882	H1-hESC	embryonic stem cell:	n/a	chr5:177591763-177591772
8	RAD21	chr5:177590977-177591925	HCT-116	colon:	n/a	chr5:177591359-177591373 chr5:177591763-177591777 chr5:177591353-177591372 chr5:177591090-177591100
9	MAX	chr5:177591022-177591825	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTBP2	chr5:177591182-177592291	H1-hESC	embryonic stem cell:	n/a	n/a
11	JUND	chr5:177591213-177591830	H1-hESC	embryonic stem cell:	n/a	n/a
12	MXI1	chr5:177591151-177591939	H1-hESC	embryonic stem cell:	n/a	n/a
13	SMC3	chr5:177591103-177591927	K562	blood:	n/a	chr5:177591470-177591480 chr5:177591357-177591371
14	RAD21	chr5:177590748-177591927	SK-N-SH	brain:	n/a	chr5:177591359-177591373 chr5:177591763-177591777 chr5:177591353-177591372 chr5:177591090-177591100
15	CTCF	chr5:177591680-177591830	GM12867	blood:	n/a	n/a
16	E2F6	chr5:177590987-177591862	H1-hESC	embryonic stem cell:	n/a	n/a
17	RAD21	chr5:177591107-177591812	H1-hESC	embryonic stem cell:	n/a	chr5:177591359-177591373 chr5:177591763-177591777 chr5:177591353-177591372
18	TCF12	chr5:177591111-177591937	ECC-1	luminal epithelium:	n/a	chr5:177591760-177591767
19	USF2	chr5:177591281-177591807	H1-hESC	embryonic stem cell:	n/a	n/a
20	SIN3AK20	chr5:177591274-177591803	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTCF	chr5:177590949-177591973	SK-N-SH	brain:	n/a	chr5:177591355-177591373 chr5:177591357-177591370 chr5:177591356-177591372 chr5:177591167-177591180 chr5:177591350-177591371
22	RAD21	chr5:177591029-177591866	H1-hESC	embryonic stem cell:	n/a	chr5:177591359-177591373 chr5:177591763-177591777 chr5:177591353-177591372 chr5:177591090-177591100
23	CTCF	chr5:177590936-177592017	A549	lung:	n/a	chr5:177591355-177591373 chr5:177591357-177591370 chr5:177591356-177591372 chr5:177591167-177591180 chr5:177591350-177591371
24	RAD21	chr5:177590878-177591799	HCT-116	colon:	n/a	chr5:177591359-177591373 chr5:177591763-177591777 chr5:177591353-177591372 chr5:177591090-177591100
25	MYC	chr5:177591147-177592022	H1-hESC	embryonic stem cell:	n/a	n/a
26	MXI1	chr5:177590913-177591788	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:177488715..177489645-chr5:177590973..177591853,2	K562	blood:
2	chr5:177501503..177502236-chr5:177590952..177591862,3	K562	blood:
3	chr5:177502481..177503770-chr5:177590804..177591932,21	MCF-7	breast:
4	chr5:177591354..177594975-chr5:177630282..177634044,5	MCF-7	breast:
5	chr5:177496504..177497535-chr5:177590873..177591843,5	MCF-7	breast:
6	chr5:177502576..177503826-chr5:177590817..177591871,19	K562	blood:
7	chr5:177588875..177592834-chr5:177630545..177633533,4	K562	blood:
8	chr5:177502412..177503437-chr5:177590940..177591794,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000251211	TF binding region
ENSG00000197451	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10042021	0.82[ASN][1000 genomes]
rs11952173	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11956103	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12656768	0.82[ASN][1000 genomes]
rs13183880	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13184023	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34594900	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs35865171	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4438891	0.84[ASN][1000 genomes]
rs4549545	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs62392212	0.89[ASN][1000 genomes]
rs6601220	0.86[ASN][1000 genomes]
rs66486976	0.96[ASN][1000 genomes]
rs6870391	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6870545	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6878464	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6878624	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6893797	0.86[ASN][1000 genomes]
rs7379278	0.83[ASN][1000 genomes]
rs7710186	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7710363	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7722349	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7732415	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948342	chr5:177384542-178168737	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	141 gene(s)	inside rSNPs	diseases
2	nsv1021198	chr5:177386267-177611648	Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
3	nsv1029398	chr5:177502106-178070654	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	136 gene(s)	inside rSNPs	diseases
4	nsv1019404	chr5:177507080-177859089	Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	126 gene(s)	inside rSNPs	diseases
5	nsv883190	chr5:177532201-177620189	Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
6	nsv600394	chr5:177549491-177608195	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	nsv1017664	chr5:177578194-177633116	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	93 gene(s)	inside rSNPs	diseases
8	nsv482872	chr5:177580298-177744381	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	106 gene(s)	inside rSNPs	diseases
9	nsv883193	chr5:177591495-177620189	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177590600-177591800	Enhancers	Primary B cells from cord blood	blood
2	chr5:177590800-177591800	Enhancers	Primary T helper cells PMA-I stimulated	--
3	chr5:177590800-177591800	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr5:177590800-177591800	Bivalent Enhancer	Fetal Brain Male	brain
5	chr5:177591000-177591800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr5:177591000-177591800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:177591000-177591800	Active TSS	iPS-18 Cell Line	embryonic stem cell
8	chr5:177591000-177591800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
9	chr5:177591000-177591800	Enhancers	Primary hematopoietic stem cells	blood
10	chr5:177591000-177591800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr5:177591000-177591800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
12	chr5:177591000-177591800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr5:177591000-177591800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr5:177591000-177591800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr5:177591000-177591800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr5:177591000-177591800	Enhancers	Liver	Liver
17	chr5:177591000-177591800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
18	chr5:177591000-177591800	Bivalent Enhancer	Fetal Thymus	thymus
19	chr5:177591000-177591800	Enhancers	Lung	lung
20	chr5:177591000-177591800	Enhancers	Pancreas	Pancrea
21	chr5:177591000-177591800	Bivalent Enhancer	Thymus	Thymus
22	chr5:177591000-177591800	Enhancers	Spleen	Spleen
23	chr5:177591000-177591800	Active TSS	A549	lung
24	chr5:177591000-177591800	Flanking Active TSS	K562	blood
25	chr5:177591000-177592000	Active TSS	HUES48 Cell Line	embryonic stem cell
26	chr5:177591000-177592600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr5:177591000-177593000	Enhancers	Fetal Heart	heart
28	chr5:177591200-177591800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
29	chr5:177591200-177591800	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
30	chr5:177591200-177591800	Bivalent Enhancer	Fetal Lung	lung
31	chr5:177591200-177591800	Enhancers	Right Ventricle	heart
32	chr5:177591200-177592000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr5:177591200-177592000	Bivalent Enhancer	Fetal Stomach	stomach
34	chr5:177591400-177591800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
35	chr5:177591400-177591800	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr5:177591400-177591800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
37	chr5:177591400-177591800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr5:177591400-177591800	Flanking Active TSS	Brain Anterior Caudate	brain
39	chr5:177591400-177591800	Bivalent/Poised TSS	Fetal Brain Female	brain
40	chr5:177591400-177591800	Bivalent Enhancer	Fetal Intestine Small	intestine
41	chr5:177591400-177591800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
42	chr5:177591400-177591800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
43	chr5:177591400-177591800	Flanking Active TSS	Hela-S3	cervix
44	chr5:177591400-177591800	Flanking Bivalent TSS/Enh	HepG2	liver
45	chr5:177591400-177592000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
46	chr5:177591400-177592000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
47	chr5:177591400-177592000	Bivalent Enhancer	Placenta	Placenta
48	chr5:177591400-177594800	Weak transcription	Right Atrium	heart
49	chr5:177591600-177591800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr5:177591600-177591800	Flanking Active TSS	H9 Cell Line	embryonic stem cell

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