Variant report

Variant	rs2731663
Chromosome Location	chr5:176869106-176869107
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:30)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:30 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:176866460-176876030	GM12892	blood:	n/a	n/a
2	POLR2A	chr5:176867246-176872793	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr5:176866520-176878259	K562	blood:	n/a	n/a
4	POLR2A	chr5:176869097-176869488	HepG2	liver:	n/a	n/a
5	POLR2A	chr5:176867256-176869776	GM12892	blood:	n/a	n/a
6	POLR2A	chr5:176867137-176872867	GM12891	blood:	n/a	n/a
7	POLR2A	chr5:176866978-176876088	HL-60	blood:	n/a	n/a
8	POLR2A	chr5:176866582-176876012	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr5:176869067-176869783	GM12878	blood:	n/a	n/a
10	POLR2A	chr5:176868725-176870700	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr5:176869063-176875896	HL-60	blood:	n/a	n/a
12	POLR2A	chr5:176868927-176870801	HepG2	liver:	n/a	n/a
13	POLR2A	chr5:176866344-176875407	GM12892	blood:	n/a	n/a
14	POLR2A	chr5:176868724-176872808	HepG2	liver:	n/a	n/a
15	POLR2A	chr5:176869088-176869749	PFSK-1	brain:	n/a	n/a
16	POLR2A	chr5:176866556-176872737	A549	lung:	n/a	n/a
17	POLR2A	chr5:176868851-176875380	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr5:176867090-176872749	K562	blood:	n/a	n/a
19	POLR2A	chr5:176866391-176872802	GM12892	blood:	n/a	n/a
20	POLR2A	chr5:176866344-176883672	GM12878	blood:	n/a	n/a
21	POLR2A	chr5:176868855-176878307	MCF10A-Er-Src	breast:	n/a	n/a
22	POLR2A	chr5:176868864-176872859	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chr5:176865352-176877413	K562	blood:	n/a	n/a
24	POLR2A	chr5:176868907-176870427	PANC-1	pancreas:	n/a	n/a
25	POLR2A	chr5:176868984-176872784	HCT-116	colon:	n/a	n/a
26	POLR2A	chr5:176869071-176872374	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr5:176869040-176872785	GM12878	blood:	n/a	n/a
28	POLR2A	chr5:176869021-176875310	HepG2	liver:	n/a	n/a
29	POLR2A	chr5:176866480-176872888	GM12891	blood:	n/a	n/a
30	POLR2A	chr5:176868974-176869723	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:176732952..176750832-chr5:176867765..176886241,49	K562	blood:
2	chr5:176543784..176546169-chr5:176868454..176870233,2	MCF-7	breast:

No data

Variant related genes	Relation type
PRR7	TF binding region
ENSG00000213347	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2306761	1.00[CEU][hapmap]
rs2544811	1.00[ASW][hapmap];1.00[CEU][hapmap];0.87[LWK][hapmap];0.84[AFR][1000 genomes]
rs58963513	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2830414	chr5:176491721-176883418	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv916108	chr5:176688459-177078723	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
3	nsv883158	chr5:176726635-176931706	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong 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	120 gene(s)	inside rSNPs	diseases
4	nsv471057	chr5:176737309-176896412	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Genic enhancers Strong transcription Active TSS 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 miRNA target site	85 gene(s)	inside rSNPs	diseases
5	nsv883160	chr5:176740996-176952919	Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Flanking Active TSS 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 miRNA target site	116 gene(s)	inside rSNPs	diseases
6	nsv1024444	chr5:176751921-177427715	Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	142 gene(s)	inside rSNPs	diseases
7	nsv883161	chr5:176754722-176958397	Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
8	nsv1020334	chr5:176779108-176954933	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
9	nsv883163	chr5:176780545-176885499	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
10	nsv883164	chr5:176780545-177003616	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
11	nsv462563	chr5:176784512-176896412	Genic enhancers Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
12	nsv600365	chr5:176784512-176896412	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
13	esv1816147	chr5:176787037-176966509	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
14	nsv1021795	chr5:176795860-176884232	Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
15	nsv537964	chr5:176795860-176884232	Bivalent Enhancer Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
16	nsv462564	chr5:176817636-176896412	Active TSS Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
17	nsv600366	chr5:176817636-176896412	Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
18	nsv883166	chr5:176817636-176940384	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
19	nsv883170	chr5:176824137-176952919	Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
20	nsv883172	chr5:176842474-176896412	Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
21	nsv883173	chr5:176842474-176931706	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
22	nsv883174	chr5:176842474-176940384	Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
23	nsv883175	chr5:176842474-176952919	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
24	nsv883176	chr5:176843297-176924175	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
25	nsv1030965	chr5:176851182-176937654	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
26	nsv1026103	chr5:176851182-176942552	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
27	nsv515805	chr5:176859848-176896412	Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
28	nsv1022832	chr5:176861503-176937654	Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
29	nsv1018088	chr5:176861503-176942552	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
30	nsv1028123	chr5:176861503-176949149	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
31	nsv537965	chr5:176861503-176949149	Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
32	nsv883177	chr5:176868358-177003616	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:176854600-176872800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr5:176855000-176873000	Weak transcription	NH-A	brain
3	chr5:176855400-176871200	Strong transcription	Fetal Stomach	stomach
4	chr5:176855400-176873200	Weak transcription	Right Atrium	heart
5	chr5:176856200-176871000	Strong transcription	Fetal Intestine Small	intestine
6	chr5:176856600-176872600	Weak transcription	Fetal Brain Male	brain
7	chr5:176856800-176869400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr5:176856800-176870000	Weak transcription	Fetal Heart	heart
9	chr5:176856800-176870400	Strong transcription	Gastric	stomach
10	chr5:176857000-176870200	Strong transcription	NHLF	lung
11	chr5:176857200-176869200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:176857800-176869400	Strong transcription	Duodenum Smooth Muscle	Duodenum
13	chr5:176858600-176869600	Strong transcription	Liver	Liver
14	chr5:176859400-176869600	Strong transcription	Ovary	ovary
15	chr5:176859800-176869600	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr5:176859800-176869800	Strong transcription	Sigmoid Colon	Sigmoid Colon
17	chr5:176860000-176869800	Strong transcription	Dnd41	blood
18	chr5:176860000-176870000	Strong transcription	Placenta	Placenta
19	chr5:176860000-176870800	Genic enhancers	Primary T cells fromperipheralblood	blood
20	chr5:176860000-176871000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr5:176860000-176871000	Strong transcription	Thymus	Thymus
22	chr5:176860200-176870800	Strong transcription	Skeletal Muscle Male	skeletal muscle
23	chr5:176860200-176870800	Strong transcription	Stomach Smooth Muscle	stomach
24	chr5:176860200-176873000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr5:176860400-176869800	Strong transcription	GM12878-XiMat	blood
26	chr5:176860600-176869400	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr5:176860600-176870200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr5:176860600-176870400	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr5:176860600-176870600	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr5:176861200-176869200	Strong transcription	Duodenum Mucosa	Duodenum
31	chr5:176861200-176871000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr5:176861400-176871200	Strong transcription	Spleen	Spleen
33	chr5:176861600-176870400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
34	chr5:176861800-176871200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr5:176861800-176873200	Weak transcription	Psoas Muscle	Psoas
36	chr5:176862000-176869800	Strong transcription	Rectal Mucosa Donor 29	rectum
37	chr5:176862400-176872800	Weak transcription	Stomach Mucosa	stomach
38	chr5:176862600-176873000	Weak transcription	HUVEC	blood vessel
39	chr5:176863000-176869400	Weak transcription	Hela-S3	cervix
40	chr5:176863000-176873000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr5:176863200-176869800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr5:176863200-176871000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr5:176863800-176872800	Weak transcription	Osteobl	bone
44	chr5:176864000-176870400	Strong transcription	Primary B cells from cord blood	blood
45	chr5:176864800-176871200	Strong transcription	Primary B cells from peripheral blood	blood
46	chr5:176865000-176872400	Weak transcription	NHDF-Ad	bronchial
47	chr5:176865000-176873000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr5:176865000-176873000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr5:176865000-176873000	Weak transcription	HMEC	breast
50	chr5:176865000-176873000	Weak transcription	HSMM	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links