Variant report

Variant	rs7719352
Chromosome Location	chr5:177661902-177661903
allele	C/T
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	RAD21	chr5:177661829-177662649	HCT-116	colon:	n/a	chr5:177662206-177662225
2	MXI1	chr5:177661692-177662310	GM12878	blood:	n/a	n/a
3	CBX3	chr5:177661893-177662621	K562	blood:	n/a	n/a
4	MYC	chr5:177661660-177662640	NB4	blood:	n/a	chr5:177662294-177662304
5	BHLHE40	chr5:177661787-177662611	K562	blood:	n/a	n/a
6	RAD21	chr5:177661195-177662794	SK-N-SH	brain:	n/a	chr5:177662206-177662225
7	ZNF263	chr5:177661504-177662759	HEK293-T-REx	kidney:	n/a	n/a
8	CTCF	chr5:177661874-177662390	H1-hESC	embryonic stem cell:	n/a	chr5:177662206-177662222 chr5:177662207-177662228 chr5:177662208-177662221 chr5:177662205-177662223
9	CTCF	chr5:177661876-177662570	MCF-7	breast:	n/a	chr5:177662206-177662222 chr5:177662207-177662228 chr5:177662208-177662221 chr5:177662205-177662223
10	STAT3	chr5:177661797-177662364	MCF10A-Er-Src	breast:	n/a	chr5:177662242-177662250
11	RAD21	chr5:177661899-177662515	H1-hESC	embryonic stem cell:	n/a	chr5:177662206-177662225
12	GTF2F1	chr5:177661861-177662503	H1-hESC	embryonic stem cell:	n/a	n/a
13	HCFC1	chr5:177661802-177662291	K562	blood:	n/a	n/a
14	CTCF	chr5:177661760-177661910	HMEC	breast:	n/a	n/a
15	CTCF	chr5:177661820-177661970	HRE	kidney:	n/a	n/a
16	RAD21	chr5:177661886-177662649	HCT-116	colon:	n/a	chr5:177662206-177662225
17	CTCF	chr5:177661780-177662620	A549	lung:	n/a	chr5:177662206-177662222 chr5:177662207-177662228 chr5:177662208-177662221 chr5:177662205-177662223
18	CTCF	chr5:177661758-177662608	HCT-116	colon:	n/a	chr5:177662206-177662222 chr5:177662207-177662228 chr5:177662208-177662221 chr5:177662205-177662223
19	POLR2A	chr5:177661026-177663055	HL-60	blood:	n/a	n/a
20	SMC3	chr5:177661793-177662769	SK-N-SH	brain:	n/a	chr5:177662207-177662221
21	POLR2A	chr5:177661004-177663100	HL-60	blood:	n/a	n/a
22	CTCF	chr5:177661713-177662718	SK-N-SH	brain:	n/a	chr5:177662206-177662222 chr5:177662207-177662228 chr5:177662208-177662221 chr5:177662205-177662223

No.	Distal block	Cell Line	Cell type
1	chr5:177661732..177662694-chr5:178017398..178018377,4	MCF-7	breast:
2	chr5:177661877..177662434-chr5:177700931..177701850,2	MCF-7	breast:
3	chr5:177659880..177662371-chr5:178030366..178033143,2	K562	blood:
4	chr5:177661743..177662668-chr5:178266372..178266966,2	K562	blood:
5	chr5:177661196..177662135-chr5:178266134..178266915,2	MCF-7	breast:

Variant related genes	Relation type
PHYKPL	TF binding region
ENSG00000050767	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs58562702	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7736838	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 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	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
3	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
4	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
5	nsv1021981	chr5:177620372-177825272	Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	105 gene(s)	inside rSNPs	diseases
6	nsv537967	chr5:177620372-177825272	Active TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	105 gene(s)	inside rSNPs	diseases
7	nsv1024689	chr5:177638936-177926244	Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	nsv537968	chr5:177638936-177926244	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
9	nsv1018031	chr5:177655010-177746378	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
10	nsv537969	chr5:177655010-177746378	Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
11	nsv883195	chr5:177655194-177690539	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
12	nsv883196	chr5:177655194-177690978	Transcr. at gene 5' and 3' Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
13	nsv883197	chr5:177655194-177707204	Genic enhancers Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
14	nsv1025291	chr5:177657927-177756215	Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
15	nsv537970	chr5:177657927-177756215	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
16	nsv527792	chr5:177659075-177675217	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
17	nsv883198	chr5:177659075-177690539	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
18	nsv883199	chr5:177661902-177717640	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177659800-177665800	Weak transcription	Gastric	stomach
2	chr5:177660000-177663400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:177660000-177663800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:177660000-177664600	Weak transcription	Small Intestine	intestine
5	chr5:177660200-177662000	Weak transcription	Pancreas	Pancrea
6	chr5:177660200-177662200	Enhancers	Placenta	Placenta
7	chr5:177660200-177662400	Weak transcription	Lung	lung
8	chr5:177660200-177662600	Enhancers	Fetal Thymus	thymus
9	chr5:177660200-177663400	Weak transcription	Right Atrium	heart
10	chr5:177660200-177663400	Weak transcription	Right Ventricle	heart
11	chr5:177660200-177664600	Weak transcription	HSMM	muscle
12	chr5:177660200-177665200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr5:177660200-177665800	Enhancers	Primary T cells fromperipheralblood	blood
14	chr5:177660200-177667000	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr5:177660200-177667000	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr5:177660200-177667600	Enhancers	Fetal Muscle Trunk	muscle
17	chr5:177660400-177662000	Weak transcription	Brain Anterior Caudate	brain
18	chr5:177660400-177662000	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr5:177660400-177662400	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr5:177660400-177662400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr5:177660400-177662600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr5:177660400-177663200	Weak transcription	Left Ventricle	heart
23	chr5:177660400-177663400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr5:177660400-177663400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr5:177660400-177663400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr5:177660400-177663400	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr5:177660400-177663400	Weak transcription	Fetal Kidney	kidney
28	chr5:177660400-177663400	Weak transcription	Fetal Lung	lung
29	chr5:177660400-177663400	Weak transcription	Psoas Muscle	Psoas
30	chr5:177660400-177663600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr5:177660400-177663600	Weak transcription	Brain Angular Gyrus	brain
32	chr5:177660400-177663600	Weak transcription	Brain Hippocampus Middle	brain
33	chr5:177660400-177663600	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr5:177660400-177663600	Weak transcription	Osteobl	bone
35	chr5:177660400-177663800	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr5:177660400-177663800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr5:177660400-177664000	Weak transcription	Brain Cingulate Gyrus	brain
38	chr5:177660400-177664000	Weak transcription	Fetal Intestine Small	intestine
39	chr5:177660400-177664200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr5:177660400-177664200	Weak transcription	Esophagus	oesophagus
41	chr5:177660400-177664200	Weak transcription	HSMMtube	muscle
42	chr5:177660400-177664400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr5:177660400-177664600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr5:177660400-177665800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr5:177660400-177665800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr5:177660400-177666200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr5:177660400-177668000	Enhancers	Primary hematopoietic stem cells	blood
48	chr5:177660600-177662000	Weak transcription	Brain Substantia Nigra	brain
49	chr5:177660600-177664400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr5:177660600-177664400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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