Variant report

Variant	rs35865171
Chromosome Location	chr5:177591514-177591515
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	MYC	chr5:177591142-177591542	K562	blood:	n/a	n/a
4	CTCF	chr5:177591110-177591557	Spleen_OC	spleen:	n/a	chr5:177591355-177591373 chr5:177591357-177591370 chr5:177591356-177591372 chr5:177591167-177591180 chr5:177591350-177591371
5	SMC3	chr5:177590910-177591785	SK-N-SH	brain:	n/a	chr5:177591470-177591480 chr5:177591357-177591371
6	ETS1	chr5:177591137-177591532	K562	blood:	n/a	chr5:177591236-177591249
7	MAX	chr5:177591032-177591886	MCF-7	breast:	n/a	n/a
8	HCFC1	chr5:177591181-177591538	K562	blood:	n/a	n/a
9	MYC	chr5:177591066-177591539	NB4	blood:	n/a	n/a
10	HDAC2	chr5:177590896-177591704	MCF-7	breast:	n/a	n/a
11	ELK1	chr5:177591188-177591527	Hela-S3	cervix:	n/a	n/a
12	CTCF	chr5:177591128-177591580	K562	blood:	n/a	chr5:177591355-177591373 chr5:177591357-177591370 chr5:177591356-177591372 chr5:177591167-177591180 chr5:177591350-177591371
13	CTCF	chr5:177590862-177591991	HCT-116	colon:	n/a	chr5:177591355-177591373 chr5:177591357-177591370 chr5:177591356-177591372 chr5:177591167-177591180 chr5:177591350-177591371
14	MAZ	chr5:177591163-177591540	Hela-S3	cervix:	n/a	n/a
15	SIN3A	chr5:177591176-177591882	H1-hESC	embryonic stem cell:	n/a	chr5:177591763-177591772
16	CTCF	chr5:177591119-177591588	GM12878	blood:	n/a	chr5:177591355-177591373 chr5:177591357-177591370 chr5:177591356-177591372 chr5:177591167-177591180 chr5:177591350-177591371
17	MXI1	chr5:177591107-177591535	GM12878	blood:	n/a	n/a
18	SMC3	chr5:177591020-177591600	HepG2	liver:	n/a	chr5:177591470-177591480 chr5:177591357-177591371
19	CTCF	chr5:177591179-177591583	T-47D	breast:	n/a	chr5:177591355-177591373 chr5:177591357-177591370 chr5:177591356-177591372 chr5:177591350-177591371
20	CTCF	chr5:177591186-177591536	GM12878	blood:	n/a	chr5:177591355-177591373 chr5:177591357-177591370 chr5:177591356-177591372 chr5:177591350-177591371
21	TBP	chr5:177591184-177591601	H1-hESC	embryonic stem cell:	n/a	n/a
22	MAX	chr5:177591115-177591572	NB4	blood:	n/a	n/a
23	RAD21	chr5:177590977-177591925	HCT-116	colon:	n/a	chr5:177591359-177591373 chr5:177591763-177591777 chr5:177591353-177591372 chr5:177591090-177591100
24	MAX	chr5:177591022-177591825	H1-hESC	embryonic stem cell:	n/a	n/a
25	CTCF	chr5:177591188-177591543	GM13977	blood:	n/a	chr5:177591355-177591373 chr5:177591357-177591370 chr5:177591356-177591372 chr5:177591350-177591371
26	JUN	chr5:177591071-177591717	K562	blood:	n/a	n/a
27	CTBP2	chr5:177591182-177592291	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr5:177591185-177591531	Gliobla	brain:	n/a	chr5:177591355-177591373 chr5:177591357-177591370 chr5:177591356-177591372 chr5:177591350-177591371
29	PAX5	chr5:177590986-177591546	GM12878	blood:	n/a	chr5:177591246-177591263 chr5:177591253-177591262
30	CTCF	chr5:177591118-177591601	IMR90	lung:	n/a	chr5:177591355-177591373 chr5:177591357-177591370 chr5:177591356-177591372 chr5:177591167-177591180 chr5:177591350-177591371
31	JUND	chr5:177591213-177591830	H1-hESC	embryonic stem cell:	n/a	n/a
32	STAT5A	chr5:177591081-177591539	GM12878	blood:	n/a	n/a
33	RAD21	chr5:177591129-177591601	GM12878	blood:	n/a	chr5:177591359-177591373 chr5:177591353-177591372
34	CTCF	chr5:177591207-177591517	H1-hESC	embryonic stem cell:	n/a	chr5:177591355-177591373 chr5:177591357-177591370 chr5:177591356-177591372 chr5:177591350-177591371
35	ZNF143	chr5:177591144-177591560	H1-hESC	embryonic stem cell:	n/a	n/a
36	MAX	chr5:177591127-177591522	GM12878	blood:	n/a	n/a
37	POLR2A	chr5:177591196-177591539	Hela-S3	cervix:	n/a	n/a
38	MXI1	chr5:177591151-177591939	H1-hESC	embryonic stem cell:	n/a	n/a
39	CTCF	chr5:177591019-177591663	K562	blood:	n/a	chr5:177591355-177591373 chr5:177591357-177591370 chr5:177591356-177591372 chr5:177591167-177591180 chr5:177591350-177591371
40	IRF4	chr5:177591081-177591577	GM12878	blood:	n/a	n/a
41	CTCF	chr5:177591193-177591531	Fibrobl	skin:	n/a	chr5:177591355-177591373 chr5:177591357-177591370 chr5:177591356-177591372 chr5:177591350-177591371
42	STAT3	chr5:177591263-177591733	MCF10A-Er-Src	breast:	n/a	n/a
43	JUND	chr5:177591134-177591551	K562	blood:	n/a	n/a
44	MAX	chr5:177591043-177591757	A549	lung:	n/a	n/a
45	CTCF	chr5:177591217-177591523	Kidney_OC	kidney:	n/a	chr5:177591355-177591373 chr5:177591357-177591370 chr5:177591356-177591372 chr5:177591350-177591371
46	CBX3	chr5:177591121-177591605	K562	blood:	n/a	n/a
47	CTCF	chr5:177591081-177591712	HCT-116	colon:	n/a	chr5:177591355-177591373 chr5:177591357-177591370 chr5:177591356-177591372 chr5:177591167-177591180 chr5:177591350-177591371
48	SP4	chr5:177591132-177591630	H1-hESC	embryonic stem cell:	n/a	n/a
49	CTCF	chr5:177591193-177591535	A549	lung:	n/a	chr5:177591355-177591373 chr5:177591357-177591370 chr5:177591356-177591372 chr5:177591350-177591371
50	CTCF	chr5:177591217-177591523	GM10266	blood:	n/a	chr5:177591355-177591373 chr5:177591357-177591370 chr5:177591356-177591372 chr5:177591350-177591371

No.	Distal block	Cell Line	Cell type
1	chr5:177501419..177502360-chr5:177590834..177591606,2	MCF-7	breast:
2	chr5:177488715..177489645-chr5:177590973..177591853,2	K562	blood:
3	chr5:177501503..177502236-chr5:177590952..177591862,3	K562	blood:
4	chr5:177502481..177503770-chr5:177590804..177591932,21	MCF-7	breast:
5	chr5:177504362..177505627-chr5:177590887..177591771,5	K562	blood:
6	chr5:177488858..177489674-chr5:177590937..177591618,3	MCF-7	breast:
7	chr5:177591354..177594975-chr5:177630282..177634044,5	MCF-7	breast:
8	chr5:177496504..177497535-chr5:177590873..177591843,5	MCF-7	breast:
9	chr5:177502576..177503826-chr5:177590817..177591871,19	K562	blood:
10	chr5:177588875..177592834-chr5:177630545..177633533,4	K562	blood:
11	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: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10040895	0.84[ASN][1000 genomes]
rs11952173	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11956103	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12656768	0.95[ASN][1000 genomes]
rs13155699	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13183880	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13184023	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34594900	0.86[ASN][1000 genomes]
rs35598853	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4438891	0.93[ASN][1000 genomes]
rs4549545	0.86[ASN][1000 genomes]
rs6601222	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs66486976	0.82[ASN][1000 genomes]
rs6870391	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6870545	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6878464	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6878624	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7710186	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7710363	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7722349	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[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:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177590600-177591800	Enhancers	Primary B cells from cord blood	blood
2	chr5:177590800-177591600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
3	chr5:177590800-177591800	Enhancers	Primary T helper cells PMA-I stimulated	--
4	chr5:177590800-177591800	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr5:177590800-177591800	Bivalent Enhancer	Fetal Brain Male	brain
6	chr5:177591000-177591600	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr5:177591000-177591600	Active TSS	H9 Cell Line	embryonic stem cell
8	chr5:177591000-177591600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr5:177591000-177591600	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr5:177591000-177591600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
11	chr5:177591000-177591600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr5:177591000-177591600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr5:177591000-177591600	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
14	chr5:177591000-177591600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr5:177591000-177591600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
16	chr5:177591000-177591600	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr5:177591000-177591600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr5:177591000-177591600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr5:177591000-177591600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr5:177591000-177591600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr5:177591000-177591600	Flanking Active TSS	Brain Germinal Matrix	brain
22	chr5:177591000-177591600	Bivalent/Poised TSS	Fetal Kidney	kidney
23	chr5:177591000-177591600	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr5:177591000-177591600	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
25	chr5:177591000-177591600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
26	chr5:177591000-177591600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
27	chr5:177591000-177591600	Flanking Bivalent TSS/Enh	Dnd41	blood
28	chr5:177591000-177591600	Enhancers	GM12878-XiMat	blood
29	chr5:177591000-177591600	Enhancers	HUVEC	blood vessel
30	chr5:177591000-177591800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr5:177591000-177591800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr5:177591000-177591800	Active TSS	iPS-18 Cell Line	embryonic stem cell
33	chr5:177591000-177591800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
34	chr5:177591000-177591800	Enhancers	Primary hematopoietic stem cells	blood
35	chr5:177591000-177591800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr5:177591000-177591800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
37	chr5:177591000-177591800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr5:177591000-177591800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr5:177591000-177591800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr5:177591000-177591800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr5:177591000-177591800	Enhancers	Liver	Liver
42	chr5:177591000-177591800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
43	chr5:177591000-177591800	Bivalent Enhancer	Fetal Thymus	thymus
44	chr5:177591000-177591800	Enhancers	Lung	lung
45	chr5:177591000-177591800	Enhancers	Pancreas	Pancrea
46	chr5:177591000-177591800	Bivalent Enhancer	Thymus	Thymus
47	chr5:177591000-177591800	Enhancers	Spleen	Spleen
48	chr5:177591000-177591800	Active TSS	A549	lung
49	chr5:177591000-177591800	Flanking Active TSS	K562	blood
50	chr5:177591000-177592000	Active TSS	HUES48 Cell Line	embryonic stem cell

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