Variant report

Variant	rs4705253
Chromosome Location	chr5:147765660-147765661
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:147762988-147766064	HepG2	liver:	n/a	n/a
2	POLR2A	chr5:147765446-147765726	Hela-S3	cervix:	n/a	n/a
3	NR2F2	chr5:147765561-147766112	MCF-7	breast:	n/a	n/a
4	POLR2A	chr5:147763134-147766648	K562	blood:	n/a	n/a
5	POLR2A	chr5:147762108-147766732	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr5:147762182-147766645	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr5:147765595-147765957	K562	blood:	n/a	n/a
8	POLR2A	chr5:147765531-147766127	HepG2	liver:	n/a	n/a
9	GATA3	chr5:147765573-147766134	MCF-7	breast:	n/a	n/a
10	POLR2A	chr5:147765581-147765918	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr5:147762536-147765992	GM12878	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:147765249..147769728-chr5:147791100..147796136,4	K562	blood:
2	chr5:147764022..147766903-chr5:147772422..147774859,3	K562	blood:
3	chr5:147762466..147766033-chr5:147774810..147779515,8	K562	blood:
4	chr5:147762735..147765811-chr5:147775100..147779684,6	MCF-7	breast:
5	chr5:147761605..147765923-chr5:147767275..147775967,11	MCF-7	breast:
6	chr5:147765057..147766795-chr5:147784064..147786690,2	K562	blood:
7	chr5:147763737..147767286-chr5:147777906..147782200,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000247199	TF binding region
ENSG00000145868	Chromatin interaction

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs10035818	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10036053	0.86[ASN][1000 genomes]
rs10041283	0.95[CEU][hapmap];0.88[EUR][1000 genomes]
rs10042369	0.81[EUR][1000 genomes]
rs10043775	0.95[CEU][hapmap];0.81[EUR][1000 genomes]
rs10044061	0.95[CEU][hapmap];0.88[EUR][1000 genomes]
rs10050560	0.96[JPT][hapmap];0.88[ASN][1000 genomes]
rs10051223	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10055332	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10055430	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10057472	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10060623	0.86[EUR][1000 genomes]
rs10068216	0.95[CEU][hapmap];0.88[EUR][1000 genomes]
rs10072051	0.95[CEU][hapmap];0.88[EUR][1000 genomes]
rs10077690	0.81[CEU][hapmap]
rs10079420	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10477376	0.95[CEU][hapmap];0.86[EUR][1000 genomes]
rs11168046	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11168047	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1128450	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12513547	0.95[CEU][hapmap]
rs12717971	0.89[ASN][1000 genomes]
rs12717973	0.81[CEU][hapmap]
rs13354454	0.84[EUR][1000 genomes]
rs1345741	0.86[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1363704	0.88[ASN][1000 genomes]
rs1363705	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1363707	1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1422968	0.89[ASN][1000 genomes]
rs1422970	0.89[ASN][1000 genomes]
rs1422976	1.00[JPT][hapmap]
rs1422977	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17108251	0.95[CEU][hapmap];0.83[EUR][1000 genomes]
rs17719662	0.88[ASN][1000 genomes]
rs17719763	0.96[JPT][hapmap];0.87[ASN][1000 genomes]
rs17719873	0.89[ASN][1000 genomes]
rs17720155	1.00[CEU][hapmap];0.82[CHB][hapmap];0.82[JPT][hapmap];0.86[YRI][hapmap];0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17776674	0.89[ASN][1000 genomes]
rs17776882	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17777066	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1862431	0.88[ASN][1000 genomes]
rs1984789	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2037997	0.83[EUR][1000 genomes]
rs2112761	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28442279	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs28617172	0.86[EUR][1000 genomes]
rs2895761	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs34685718	0.86[EUR][1000 genomes]
rs35700061	0.89[ASN][1000 genomes]
rs36028618	0.86[EUR][1000 genomes]
rs3734120	0.95[CEU][hapmap]
rs3734121	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3749689	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs3925019	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4349707	0.95[CEU][hapmap];0.86[EUR][1000 genomes]
rs4406123	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4599524	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4599526	1.00[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4639212	0.84[EUR][1000 genomes]
rs4639213	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4705247	0.86[CEU][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4705249	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs6580544	0.88[ASN][1000 genomes]
rs6580545	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs6580546	0.96[JPT][hapmap];0.88[ASN][1000 genomes]
rs6861078	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6875795	0.89[ASN][1000 genomes]
rs6876308	0.89[ASN][1000 genomes]
rs6884076	0.94[CEU][hapmap]
rs6886203	0.88[ASN][1000 genomes]
rs6892647	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs7712350	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7713927	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7727320	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7728004	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7730707	0.88[ASN][1000 genomes]
rs7733401	0.86[EUR][1000 genomes]
rs7736019	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9325095	0.95[CEU][hapmap];0.86[EUR][1000 genomes]
rs9325096	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9325097	0.94[CEU][hapmap]
rs9325098	0.95[CEU][hapmap]

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:147764200-147765800	Flanking Active TSS	Dnd41	blood
2	chr5:147764200-147766200	Enhancers	Spleen	Spleen
3	chr5:147764400-147765800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
4	chr5:147764400-147765800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr5:147764400-147765800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
6	chr5:147764400-147765800	Enhancers	Brain Substantia Nigra	brain
7	chr5:147764400-147765800	Enhancers	Fetal Intestine Large	intestine
8	chr5:147764400-147765800	Enhancers	Lung	lung
9	chr5:147764400-147765800	Enhancers	Placenta Amnion	Placenta Amnion
10	chr5:147764400-147766000	Enhancers	Primary B cells from peripheral blood	blood
11	chr5:147764400-147766000	Enhancers	Gastric	stomach
12	chr5:147764400-147766000	Enhancers	Sigmoid Colon	Sigmoid Colon
13	chr5:147764400-147766200	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr5:147764400-147766200	Enhancers	Primary T cells fromperipheralblood	blood
15	chr5:147764400-147766200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr5:147764400-147766200	Enhancers	Pancreas	Pancrea
17	chr5:147764400-147766800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr5:147764400-147767400	Weak transcription	Placenta	Placenta
19	chr5:147764400-147768000	Weak transcription	Aorta	Aorta
20	chr5:147764400-147773000	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr5:147764400-147777200	Weak transcription	Fetal Muscle Trunk	muscle
22	chr5:147764400-147789800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr5:147764400-147795400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr5:147764400-147796600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr5:147764400-147806800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr5:147764600-147765800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr5:147764600-147765800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr5:147764600-147765800	Enhancers	Brain Anterior Caudate	brain
29	chr5:147764600-147765800	Enhancers	Brain Cingulate Gyrus	brain
30	chr5:147764600-147765800	Enhancers	Colon Smooth Muscle	Colon
31	chr5:147764600-147765800	Enhancers	Fetal Brain Male	brain
32	chr5:147764600-147765800	Enhancers	Fetal Intestine Small	intestine
33	chr5:147764600-147766000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr5:147764600-147766000	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr5:147764600-147766000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
36	chr5:147764600-147766000	Enhancers	Rectal Mucosa Donor 29	rectum
37	chr5:147764600-147766000	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr5:147764600-147766000	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr5:147764600-147766000	Enhancers	Stomach Mucosa	stomach
40	chr5:147764600-147766000	Enhancers	Thymus	Thymus
41	chr5:147764600-147766000	Flanking Active TSS	GM12878-XiMat	blood
42	chr5:147764600-147766200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr5:147764600-147766200	Enhancers	HSMMtube	muscle
44	chr5:147764600-147766400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
45	chr5:147764600-147766400	Enhancers	Liver	Liver
46	chr5:147764600-147766600	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr5:147764600-147766800	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr5:147764600-147767000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr5:147764600-147768000	Enhancers	HUVEC	blood vessel
50	chr5:147764600-147768600	Enhancers	Primary T helper naive cells from peripheral blood	blood

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