Variant report

Variant	rs931182
Chromosome Location	chr4:54243230-54243231
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	POLR2A	chr4:54243182-54244282	HepG2	liver:	n/a	n/a
2	RCOR1	chr4:54243004-54244418	K562	blood:	n/a	n/a
3	ZNF384	chr4:54243142-54243333	GM12878	blood:	n/a	n/a
4	MXI1	chr4:54243000-54245752	SK-N-SH	brain:	n/a	n/a
5	REST	chr4:54243090-54244588	H1-neurons	neurons:	n/a	n/a
6	HCFC1	chr4:54243213-54244403	K562	blood:	n/a	n/a
7	MAZ	chr4:54243139-54244403	K562	blood:	n/a	chr4:54243636-54243646
8	JUND	chr4:54243187-54244284	K562	blood:	n/a	n/a
9	TAF1	chr4:54243125-54244286	ECC-1	luminal epithelium:	n/a	n/a
10	SPI1	chr4:54242969-54243402	HL-60	blood:	n/a	chr4:54243139-54243152
11	POLR2A	chr4:54242979-54244534	GM12891	blood:	n/a	n/a
12	NR2F2	chr4:54243095-54244291	K562	blood:	n/a	n/a
13	EP300	chr4:54242955-54244033	K562	blood:	n/a	chr4:54243131-54243145 chr4:54243468-54243481 chr4:54243128-54243142 chr4:54243142-54243151
14	POLR2A	chr4:54243085-54244412	HUVEC	blood vessel:	n/a	n/a
15	MTA3	chr4:54243067-54244670	GM12878	blood:	n/a	n/a
16	NRF1	chr4:54243132-54244802	SK-N-SH	brain:	n/a	chr4:54243731-54243740 chr4:54243728-54243742 chr4:54243638-54243647 chr4:54243731-54243745 chr4:54243806-54243817 chr4:54243731-54243742
17	POLR2A	chr4:54243046-54244441	MCF10A-Er-Src	breast:	n/a	n/a
18	MXI1	chr4:54243126-54244684	IMR90	lung:	n/a	n/a
19	TBP	chr4:54243123-54244330	K562	blood:	n/a	n/a
20	NRF1	chr4:54243206-54244069	GM12878	blood:	n/a	chr4:54243731-54243740 chr4:54243728-54243742 chr4:54243638-54243647 chr4:54243731-54243745 chr4:54243806-54243817 chr4:54243731-54243742
21	POLR2A	chr4:54243179-54243302	ProgFib	skin:	n/a	n/a
22	TBL1XR1	chr4:54243140-54243794	K562	blood:	n/a	n/a
23	MYC	chr4:54243169-54244607	K562	blood:	n/a	chr4:54243636-54243646

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:

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

Extended variants
information (count: 77 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10000746	1.00[CEU][hapmap];0.89[CHB][hapmap];0.80[JPT][hapmap];0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10001201	0.87[CEU][hapmap];0.88[EUR][1000 genomes]
rs10007903	0.87[CEU][hapmap];0.81[EUR][1000 genomes]
rs10011259	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10017903	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10021541	0.87[EUR][1000 genomes]
rs10028142	0.82[EUR][1000 genomes]
rs1021099	0.87[EUR][1000 genomes]
rs11133266	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[YRI][hapmap];0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11722866	0.83[EUR][1000 genomes]
rs11723755	0.83[EUR][1000 genomes]
rs11725230	0.86[CEU][hapmap];0.83[EUR][1000 genomes]
rs11731499	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11734039	0.86[CEU][hapmap];0.87[EUR][1000 genomes]
rs11734681	0.83[CEU][hapmap]
rs11947256	0.87[EUR][1000 genomes]
rs12507563	0.83[CEU][hapmap]
rs12507739	0.82[CEU][hapmap]
rs12508701	0.82[CEU][hapmap]
rs12511088	0.83[CEU][hapmap]
rs12511253	0.82[CEU][hapmap]
rs12642403	0.82[CEU][hapmap]
rs12649718	0.88[EUR][1000 genomes]
rs12651390	0.87[CEU][hapmap]
rs1471597	0.87[EUR][1000 genomes]
rs1481819	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1481824	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1531748	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1600795	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17082782	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17082893	0.82[CEU][hapmap]
rs17520800	0.82[EUR][1000 genomes]
rs2090117	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2271554	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2271559	0.82[CEU][hapmap]
rs2412447	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs2412488	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28414913	0.82[EUR][1000 genomes]
rs28579268	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35499169	0.86[EUR][1000 genomes]
rs3765158	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3811782	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3811785	0.86[CEU][hapmap];0.81[EUR][1000 genomes]
rs4864759	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4864760	0.86[CEU][hapmap];0.87[EUR][1000 genomes]
rs4864767	0.82[CEU][hapmap]
rs56998298	0.87[EUR][1000 genomes]
rs6554100	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6554104	0.86[CEU][hapmap];0.87[EUR][1000 genomes]
rs6554105	0.86[CEU][hapmap];0.87[EUR][1000 genomes]
rs6554106	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];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6818788	0.83[CEU][hapmap]
rs6822201	0.83[CEU][hapmap]
rs6825364	0.81[EUR][1000 genomes]
rs6827269	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6828559	0.81[CEU][hapmap];0.82[EUR][1000 genomes]
rs6833766	0.87[CEU][hapmap];0.83[EUR][1000 genomes]
rs6834934	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6838260	0.82[CEU][hapmap]
rs6839922	0.83[CEU][hapmap]
rs6840530	0.83[CEU][hapmap]
rs6848887	0.88[EUR][1000 genomes]
rs6852884	0.95[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[YRI][hapmap];0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6857024	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6857869	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7655975	0.87[EUR][1000 genomes]
rs7686876	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs7689981	0.82[EUR][1000 genomes]
rs7690908	0.82[EUR][1000 genomes]
rs7691578	0.82[EUR][1000 genomes]
rs7697622	0.88[EUR][1000 genomes]
rs7698792	0.87[CEU][hapmap];0.81[EUR][1000 genomes]
rs931181	0.86[CEU][hapmap];0.88[EUR][1000 genomes]
rs9312639	0.81[EUR][1000 genomes]
rs980987	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9995284	0.80[EUR][1000 genomes]
rs9996883	0.82[CEU][hapmap]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs931182	ZNF585A	cis	Frontal Cortex	GTEx

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:54241400-54243600	Weak transcription	Gastric	stomach
2	chr4:54243000-54243400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr4:54243000-54243400	Flanking Active TSS	Duodenum Mucosa	Duodenum
4	chr4:54243000-54243400	Flanking Active TSS	HepG2	liver
5	chr4:54243000-54243400	Flanking Active TSS	K562	blood
6	chr4:54243000-54243600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
7	chr4:54243000-54243600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr4:54243000-54243600	Flanking Active TSS	Adipose Nuclei	Adipose
9	chr4:54243000-54243600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr4:54243000-54243800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr4:54243000-54244800	Active TSS	Fetal Lung	lung
12	chr4:54243000-54244800	Active TSS	Rectal Mucosa Donor 29	rectum
13	chr4:54243000-54245000	Active TSS	Brain Cingulate Gyrus	brain
14	chr4:54243000-54247800	Active TSS	GM12878-XiMat	blood
15	chr4:54243200-54243400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr4:54243200-54243400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr4:54243200-54243400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr4:54243200-54243400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr4:54243200-54243400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
20	chr4:54243200-54243400	Enhancers	Primary B cells from peripheral blood	blood
21	chr4:54243200-54243400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
22	chr4:54243200-54243400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr4:54243200-54243400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr4:54243200-54243400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
25	chr4:54243200-54243400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
26	chr4:54243200-54243400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr4:54243200-54243400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr4:54243200-54243400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr4:54243200-54243400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
30	chr4:54243200-54243400	Flanking Active TSS	Liver	Liver
31	chr4:54243200-54243400	Flanking Active TSS	Brain Angular Gyrus	brain
32	chr4:54243200-54243400	Flanking Active TSS	Brain Anterior Caudate	brain
33	chr4:54243200-54243400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
34	chr4:54243200-54243400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr4:54243200-54243400	Flanking Active TSS	Brain Substantia Nigra	brain
36	chr4:54243200-54243400	Flanking Active TSS	Colonic Mucosa	Colon
37	chr4:54243200-54243400	Flanking Active TSS	Colon Smooth Muscle	Colon
38	chr4:54243200-54243400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
39	chr4:54243200-54243400	Flanking Active TSS	Fetal Brain Male	brain
40	chr4:54243200-54243400	Flanking Active TSS	Fetal Brain Female	brain
41	chr4:54243200-54243400	Flanking Active TSS	Fetal Kidney	kidney
42	chr4:54243200-54243400	Flanking Active TSS	Fetal Muscle Leg	muscle
43	chr4:54243200-54243400	Flanking Active TSS	Fetal Thymus	thymus
44	chr4:54243200-54243400	Enhancers	Placenta Amnion	Placenta Amnion
45	chr4:54243200-54243400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
46	chr4:54243200-54243400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
47	chr4:54243200-54243400	Flanking Active TSS	Small Intestine	intestine
48	chr4:54243200-54243400	Flanking Active TSS	Stomach Smooth Muscle	stomach
49	chr4:54243200-54243400	Flanking Active TSS	A549	lung
50	chr4:54243200-54243400	Flanking Active TSS	Hela-S3	cervix

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