Variant report

Variant	rs9312639
Chromosome Location	chr4:54226228-54226229
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:54225875..54227419-chr4:54229221..54231130,2	MCF-7	breast:
2	chr4:54189381..54192289-chr4:54225390..54227356,2	K562	blood:
3	chr4:54224763..54227225-chr4:54237366..54239290,2	K562	blood:

Extended variants
information (count: 81 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10000746	0.88[CHB][hapmap];0.81[EUR][1000 genomes]
rs10001201	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[YRI][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10005424	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10007903	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10011259	0.81[EUR][1000 genomes]
rs10017903	0.81[EUR][1000 genomes]
rs10021541	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10028142	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1021099	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11133266	0.85[CEU][hapmap];0.85[EUR][1000 genomes]
rs11133276	0.83[CEU][hapmap]
rs11722866	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11723755	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11725230	0.95[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.89[TSI][hapmap];0.81[YRI][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11731499	0.81[EUR][1000 genomes]
rs11734039	0.95[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.91[MKK][hapmap];0.89[TSI][hapmap];0.81[YRI][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11734681	0.90[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.82[EUR][1000 genomes]
rs11944047	0.81[GIH][hapmap]
rs11947256	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12507563	0.90[CEU][hapmap];0.82[CHB][hapmap];0.87[JPT][hapmap]
rs12507739	0.90[CEU][hapmap];0.91[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.83[MEX][hapmap];0.89[TSI][hapmap]
rs12508701	0.90[CEU][hapmap];0.86[CHB][hapmap];0.91[CHD][hapmap];0.88[GIH][hapmap];0.91[JPT][hapmap]
rs12511088	0.90[CEU][hapmap];0.83[CHB][hapmap];0.86[JPT][hapmap]
rs12511253	0.90[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap]
rs12642403	0.90[CEU][hapmap];0.82[CHB][hapmap];0.88[GIH][hapmap];0.87[JPT][hapmap];0.83[MEX][hapmap]
rs12649718	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12651390	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1471597	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1481819	0.81[EUR][1000 genomes]
rs1481824	0.82[EUR][1000 genomes]
rs1531748	0.84[CEU][hapmap];0.81[EUR][1000 genomes]
rs1600795	0.85[CEU][hapmap];0.86[EUR][1000 genomes]
rs17082893	0.90[CEU][hapmap];0.86[CHB][hapmap];0.91[CHD][hapmap];0.88[GIH][hapmap];0.91[JPT][hapmap];0.83[MEX][hapmap];0.82[MKK][hapmap]
rs17520800	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2271554	0.81[EUR][1000 genomes]
rs2271559	0.90[CEU][hapmap];0.82[CHB][hapmap];0.87[JPT][hapmap]
rs2412447	0.87[CHB][hapmap];0.81[YRI][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28414913	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28459503	0.82[ASN][1000 genomes]
rs35499169	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs36011216	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3811782	0.82[EUR][1000 genomes]
rs3811785	0.95[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.86[TSI][hapmap];0.81[YRI][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4864759	0.81[EUR][1000 genomes]
rs4864760	0.95[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.83[TSI][hapmap];0.81[YRI][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4864767	0.90[CEU][hapmap];0.82[CHB][hapmap];0.87[JPT][hapmap];0.83[MEX][hapmap]
rs56998298	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6554098	0.82[LWK][hapmap]
rs6554100	0.82[EUR][1000 genomes]
rs6554104	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[YRI][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6554105	0.95[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.89[TSI][hapmap];0.81[YRI][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6554106	0.81[EUR][1000 genomes]
rs6554109	0.81[GIH][hapmap]
rs6818788	0.90[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap]
rs6822201	0.90[CEU][hapmap];0.82[CHB][hapmap];0.87[JPT][hapmap]
rs6825364	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6828559	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6833766	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[YRI][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6834934	0.82[EUR][1000 genomes]
rs6835629	0.81[GIH][hapmap]
rs6838260	0.90[CEU][hapmap];0.86[CHB][hapmap];0.91[CHD][hapmap];0.88[GIH][hapmap];0.91[JPT][hapmap]
rs6839922	0.90[CEU][hapmap];0.82[CHB][hapmap];0.86[JPT][hapmap]
rs6840343	0.82[CEU][hapmap];0.82[CHB][hapmap];0.83[GIH][hapmap];0.82[JPT][hapmap]
rs6840530	0.90[CEU][hapmap];0.81[CHB][hapmap];0.87[JPT][hapmap]
rs6848887	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6852884	0.85[CEU][hapmap];0.86[EUR][1000 genomes]
rs6857024	0.82[EUR][1000 genomes]
rs7655975	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7682199	0.86[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.89[TSI][hapmap];0.81[YRI][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7686177	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7686876	1.00[CHB][hapmap];0.95[JPT][hapmap];0.80[YRI][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7689981	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7690908	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7691578	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7697622	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7698792	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[YRI][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs931181	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]
rs931182	0.81[EUR][1000 genomes]
rs980987	0.80[EUR][1000 genomes]
rs9995284	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9996883	0.90[CEU][hapmap];0.86[CHB][hapmap];0.91[CHD][hapmap];0.88[GIH][hapmap];0.91[JPT][hapmap]

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs9312639	TYW1B	trans	parietal	SCAN
rs9312639	EXOC1	cis	cerebellum	SCAN
rs9312639	ZNF585A	cis	Frontal Cortex	GTEx

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:54170600-54230600	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr4:54188200-54231200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:54212000-54227200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr4:54213600-54228600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr4:54213800-54230400	Weak transcription	Fetal Kidney	kidney
6	chr4:54214000-54230800	Weak transcription	Aorta	Aorta
7	chr4:54214000-54231200	Weak transcription	Lung	lung
8	chr4:54214200-54228200	Weak transcription	Esophagus	oesophagus
9	chr4:54214200-54228200	Weak transcription	Fetal Brain Female	brain
10	chr4:54214200-54228200	Weak transcription	NH-A	brain
11	chr4:54214200-54228800	Weak transcription	Colon Smooth Muscle	Colon
12	chr4:54214200-54229000	Weak transcription	HUVEC	blood vessel
13	chr4:54214200-54230000	Weak transcription	Fetal Heart	heart
14	chr4:54214200-54230000	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr4:54214200-54230400	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr4:54214200-54230800	Weak transcription	Brain Angular Gyrus	brain
17	chr4:54214200-54230800	Weak transcription	Brain Substantia Nigra	brain
18	chr4:54214200-54230800	Weak transcription	Fetal Lung	lung
19	chr4:54214200-54230800	Weak transcription	Right Ventricle	heart
20	chr4:54214200-54230800	Weak transcription	HSMMtube	muscle
21	chr4:54214200-54231000	Weak transcription	Brain Cingulate Gyrus	brain
22	chr4:54214200-54231000	Weak transcription	Rectal Smooth Muscle	rectum
23	chr4:54214200-54231200	Weak transcription	Spleen	Spleen
24	chr4:54214400-54230200	Weak transcription	HMEC	breast
25	chr4:54214600-54230000	Weak transcription	Brain Anterior Caudate	brain
26	chr4:54214800-54230200	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr4:54215000-54226800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr4:54216600-54227600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr4:54218800-54230800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr4:54219000-54227600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr4:54219000-54228400	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr4:54219200-54227400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr4:54219200-54227600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr4:54219200-54227600	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr4:54219200-54227600	Weak transcription	HSMM	muscle
36	chr4:54219200-54229400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr4:54219200-54229400	Weak transcription	Fetal Muscle Trunk	muscle
38	chr4:54219200-54230000	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr4:54219400-54229400	Weak transcription	Left Ventricle	heart
40	chr4:54219400-54230400	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr4:54219400-54230800	Weak transcription	Thymus	Thymus
42	chr4:54219600-54226600	Weak transcription	Duodenum Mucosa	Duodenum
43	chr4:54219600-54227200	Weak transcription	NHLF	lung
44	chr4:54219600-54228800	Weak transcription	Adipose Nuclei	Adipose
45	chr4:54219600-54229000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr4:54219600-54230000	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr4:54219600-54230200	Weak transcription	Primary hematopoietic stem cells	blood
48	chr4:54219800-54226400	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr4:54219800-54227600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr4:54219800-54227800	Weak transcription	NHEK	skin

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