Variant report

Variant	rs931181
Chromosome Location	chr4:54243074-54243075
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	RCOR1	chr4:54243004-54244418	K562	blood:	n/a	n/a
2	MXI1	chr4:54243000-54245752	SK-N-SH	brain:	n/a	n/a
3	SPI1	chr4:54242969-54243402	HL-60	blood:	n/a	chr4:54243139-54243152
4	POLR2A	chr4:54242979-54244534	GM12891	blood:	n/a	n/a
5	EP300	chr4:54242955-54244033	K562	blood:	n/a	chr4:54243131-54243145 chr4:54243468-54243481 chr4:54243128-54243142 chr4:54243142-54243151
6	MTA3	chr4:54243067-54244670	GM12878	blood:	n/a	n/a
7	POLR2A	chr4:54243046-54244441	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:54216475..54218028-chr4:54241567..54243477,2	K562	blood:
2	chr4:54230756..54233682-chr4:54240977..54245711,5	MCF-7	breast:
3	chr4:54231715..54234430-chr4:54240716..54243244,3	MCF-7	breast:
4	chr4:54242110..54243670-chr4:54261563..54263151,2	K562	blood:
5	chr4:54241165..54243159-chr4:54244086..54246156,2	MCF-7	breast:

Variant related genes	Relation type
FIP1L1	TF binding region
ENSG00000184178	Chromatin interaction
ENSG00000145216	Chromatin interaction

Extended variants
information (count: 94 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:94)

rs_ID	r²[population]
rs10000746	0.84[CEU][hapmap];0.88[CHB][hapmap];0.84[JPT][hapmap];0.88[EUR][1000 genomes]
rs10001201	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10005424	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10007903	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10011259	0.85[CEU][hapmap];0.88[EUR][1000 genomes]
rs10011394	0.80[ASN][1000 genomes]
rs10017903	0.88[EUR][1000 genomes]
rs10021541	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10028142	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10032903	0.80[ASN][1000 genomes]
rs1021099	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11133266	0.82[CEU][hapmap];0.82[EUR][1000 genomes]
rs11133276	0.90[CEU][hapmap];0.90[YRI][hapmap]
rs11722866	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11723755	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11725230	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11731499	0.88[EUR][1000 genomes]
rs11734039	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11734681	0.95[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.86[YRI][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11944047	0.81[GIH][hapmap]
rs11947256	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12507563	0.95[CEU][hapmap];0.82[CHB][hapmap];0.82[JPT][hapmap]
rs12507739	0.95[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];1.00[TSI][hapmap];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12508701	0.95[CEU][hapmap];0.86[CHB][hapmap];0.93[CHD][hapmap];0.88[GIH][hapmap];0.86[JPT][hapmap];0.87[TSI][hapmap];0.80[ASN][1000 genomes]
rs12511088	0.95[CEU][hapmap];0.83[CHB][hapmap];0.80[JPT][hapmap]
rs12511253	0.95[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap]
rs12642403	0.95[CEU][hapmap];0.82[CHB][hapmap];0.86[CHD][hapmap];0.88[GIH][hapmap];0.82[JPT][hapmap];0.84[TSI][hapmap]
rs12649718	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12651390	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs13150384	0.80[ASN][1000 genomes]
rs1471597	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1481819	0.86[CEU][hapmap];0.88[EUR][1000 genomes]
rs1481824	0.86[CEU][hapmap];0.88[EUR][1000 genomes]
rs1531748	0.90[CEU][hapmap];0.88[EUR][1000 genomes]
rs1600795	0.82[CEU][hapmap];0.83[EUR][1000 genomes]
rs17082782	0.83[EUR][1000 genomes]
rs17082893	0.93[ASW][hapmap];0.95[CEU][hapmap];0.86[CHB][hapmap];0.93[CHD][hapmap];0.88[GIH][hapmap];0.86[JPT][hapmap];0.89[MKK][hapmap];0.87[TSI][hapmap];0.86[YRI][hapmap];0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17520800	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2090117	0.86[CEU][hapmap];0.83[EUR][1000 genomes]
rs2271554	0.88[EUR][1000 genomes]
rs2271559	0.95[CEU][hapmap];0.82[CHB][hapmap];0.82[JPT][hapmap]
rs2412447	0.86[CEU][hapmap];0.87[CHB][hapmap];0.83[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2412488	0.86[CEU][hapmap];0.82[EUR][1000 genomes]
rs28414913	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28459503	0.85[ASN][1000 genomes]
rs28579268	0.85[EUR][1000 genomes]
rs35089837	0.80[ASN][1000 genomes]
rs35499169	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs36011216	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3765158	0.86[CEU][hapmap];0.82[EUR][1000 genomes]
rs3811782	0.88[EUR][1000 genomes]
rs3811785	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4864759	0.88[EUR][1000 genomes]
rs4864760	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.98[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4864767	0.95[CEU][hapmap];0.82[CHB][hapmap];0.84[CHD][hapmap];0.82[JPT][hapmap];0.82[TSI][hapmap]
rs56998298	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6554100	0.88[EUR][1000 genomes]
rs6554104	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6554105	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6554106	0.86[CEU][hapmap];0.88[EUR][1000 genomes]
rs6554109	0.81[GIH][hapmap]
rs6818788	0.95[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.80[ASN][1000 genomes]
rs6821471	0.86[LWK][hapmap]
rs6822201	0.95[CEU][hapmap];0.82[CHB][hapmap];0.82[JPT][hapmap]
rs6825364	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6827269	0.82[EUR][1000 genomes]
rs6828559	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.91[MKK][hapmap];0.89[TSI][hapmap];0.81[YRI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6833442	0.92[AFR][1000 genomes]
rs6833766	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6834934	0.88[EUR][1000 genomes]
rs6835629	0.81[GIH][hapmap]
rs6838260	0.95[CEU][hapmap];0.86[CHB][hapmap];0.93[CHD][hapmap];0.88[GIH][hapmap];0.86[JPT][hapmap];0.87[TSI][hapmap];0.80[ASN][1000 genomes]
rs6839922	0.95[CEU][hapmap];0.82[CHB][hapmap];0.81[JPT][hapmap]
rs6840343	0.83[CEU][hapmap];0.82[CHB][hapmap];0.83[GIH][hapmap];0.81[TSI][hapmap]
rs6840530	0.95[CEU][hapmap];0.81[CHB][hapmap];0.82[JPT][hapmap]
rs6848887	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6852884	0.82[CEU][hapmap];0.83[EUR][1000 genomes]
rs6857024	0.88[EUR][1000 genomes]
rs6857869	0.86[EUR][1000 genomes]
rs7655975	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7682199	1.00[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7686177	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7686876	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7688853	0.80[ASN][1000 genomes]
rs7689981	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7690908	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7691578	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7697622	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7698792	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs931182	0.86[CEU][hapmap];0.88[EUR][1000 genomes]
rs9312639	0.95[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.93[MKK][hapmap];0.89[TSI][hapmap];0.81[YRI][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs980987	0.86[EUR][1000 genomes]
rs9995284	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9996883	0.95[CEU][hapmap];0.86[CHB][hapmap];0.93[CHD][hapmap];0.88[GIH][hapmap];0.86[JPT][hapmap];0.87[TSI][hapmap];0.80[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs931181	ZNF585A	cis	Frontal Cortex	GTEx

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:54233000-54243200	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr4:54240200-54243200	Weak transcription	HSMMtube	muscle
3	chr4:54241200-54243200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr4:54241400-54243200	Enhancers	Stomach Mucosa	stomach
5	chr4:54241400-54243600	Weak transcription	Gastric	stomach
6	chr4:54241800-54243200	Enhancers	Fetal Intestine Small	intestine
7	chr4:54242000-54243200	Enhancers	Fetal Intestine Large	intestine
8	chr4:54242200-54243200	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr4:54242400-54243200	Weak transcription	Colonic Mucosa	Colon
10	chr4:54242800-54243200	Enhancers	Primary B cells from cord blood	blood
11	chr4:54243000-54243200	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr4:54243000-54243200	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr4:54243000-54243200	Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr4:54243000-54243200	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr4:54243000-54243200	Active TSS	Primary hematopoietic stem cells	blood
16	chr4:54243000-54243200	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr4:54243000-54243200	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr4:54243000-54243200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr4:54243000-54243200	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr4:54243000-54243200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr4:54243000-54243200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr4:54243000-54243200	Enhancers	Liver	Liver
23	chr4:54243000-54243200	Active TSS	Duodenum Smooth Muscle	Duodenum
24	chr4:54243000-54243200	Enhancers	Fetal Heart	heart
25	chr4:54243000-54243200	Enhancers	Pancreatic Islets	Pancreatic Islet
26	chr4:54243000-54243200	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr4:54243000-54243200	Enhancers	Stomach Smooth Muscle	stomach
28	chr4:54243000-54243200	Enhancers	Dnd41	blood
29	chr4:54243000-54243200	Enhancers	Hela-S3	cervix
30	chr4:54243000-54243200	Enhancers	HMEC	breast
31	chr4:54243000-54243200	Enhancers	HUVEC	blood vessel
32	chr4:54243000-54243200	Enhancers	NH-A	brain
33	chr4:54243000-54243200	Enhancers	NHDF-Ad	bronchial
34	chr4:54243000-54243200	Enhancers	NHLF	lung
35	chr4:54243000-54243400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr4:54243000-54243400	Flanking Active TSS	Duodenum Mucosa	Duodenum
37	chr4:54243000-54243400	Flanking Active TSS	HepG2	liver
38	chr4:54243000-54243400	Flanking Active TSS	K562	blood
39	chr4:54243000-54243600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
40	chr4:54243000-54243600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr4:54243000-54243600	Flanking Active TSS	Adipose Nuclei	Adipose
42	chr4:54243000-54243600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
43	chr4:54243000-54243800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr4:54243000-54244800	Active TSS	Fetal Lung	lung
45	chr4:54243000-54244800	Active TSS	Rectal Mucosa Donor 29	rectum
46	chr4:54243000-54245000	Active TSS	Brain Cingulate Gyrus	brain
47	chr4:54243000-54247800	Active TSS	GM12878-XiMat	blood

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