Variant report

Variant	rs952319
Chromosome Location	chr7:99171449-99171450
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:99122361..99125551-chr7:99169280..99172960,3	K562	blood:
2	chr7:99169661..99171817-chr7:99210790..99213019,2	K562	blood:
3	chr7:99171149..99174284-chr7:99174652..99178986,6	K562	blood:
4	chr7:99169101..99171975-chr7:99172113..99174282,3	K562	blood:

Extended variants
information (count: 71 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10251282	0.89[ASN][1000 genomes]
rs10254729	0.83[CEU][hapmap]
rs10279308	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1045012	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs11734	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs11972210	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs11978089	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs17161700	1.00[JPT][hapmap]
rs17161726	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs17854665	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2003499	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2293256	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2404487	0.89[ASN][1000 genomes]
rs2404488	0.89[ASN][1000 genomes]
rs28365067	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs28377312	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs28460612	0.89[ASN][1000 genomes]
rs28558950	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs28668326	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs28753399	0.89[ASN][1000 genomes]
rs34943973	0.89[ASN][1000 genomes]
rs3528	0.89[ASN][1000 genomes]
rs3823813	0.83[ASN][1000 genomes]
rs3843540	0.83[CEU][hapmap];0.82[EUR][1000 genomes]
rs41258334	0.89[ASN][1000 genomes]
rs41385645	1.00[JPT][hapmap]
rs45441991	0.83[ASN][1000 genomes]
rs45448997	0.89[ASN][1000 genomes]
rs45451992	0.89[ASN][1000 genomes]
rs45461000	0.89[ASN][1000 genomes]
rs45492501	0.83[ASN][1000 genomes]
rs45529541	0.83[ASN][1000 genomes]
rs45555335	0.83[ASN][1000 genomes]
rs45592335	0.83[ASN][1000 genomes]
rs45593341	0.83[ASN][1000 genomes]
rs55830753	0.83[ASN][1000 genomes]
rs55927283	0.83[ASN][1000 genomes]
rs55942267	0.89[ASN][1000 genomes]
rs56167514	0.94[ASN][1000 genomes]
rs57367781	0.94[ASN][1000 genomes]
rs57830676	0.83[ASN][1000 genomes]
rs59240302	0.94[ASN][1000 genomes]
rs59574285	0.89[ASN][1000 genomes]
rs59672032	0.89[ASN][1000 genomes]
rs6955490	1.00[JPT][hapmap]
rs6956305	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs6961634	0.83[CEU][hapmap]
rs6974831	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs6976017	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs6977165	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs73397447	0.89[ASN][1000 genomes]
rs73397481	0.89[ASN][1000 genomes]
rs73397499	0.89[ASN][1000 genomes]
rs73401507	0.89[ASN][1000 genomes]
rs73401510	0.89[ASN][1000 genomes]
rs73401516	0.89[ASN][1000 genomes]
rs73403247	0.94[ASN][1000 genomes]
rs73403272	0.94[ASN][1000 genomes]
rs73403286	0.94[ASN][1000 genomes]
rs73403290	0.94[ASN][1000 genomes]
rs73405247	0.94[ASN][1000 genomes]
rs73711280	0.89[ASN][1000 genomes]
rs73711293	0.94[ASN][1000 genomes]
rs73711294	0.94[ASN][1000 genomes]
rs73713507	0.94[ASN][1000 genomes]
rs73713531	0.89[ASN][1000 genomes]
rs73713580	0.89[ASN][1000 genomes]
rs7794068	0.94[ASN][1000 genomes]
rs7805661	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7806754	0.83[ASN][1000 genomes]
rs917152	1.00[JPT][hapmap];0.89[ASN][1000 genomes]

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs952319	GATS	cis	parietal	SCAN
rs952319	CPSF4	cis	parietal	SCAN
rs952319	BUD31	cis	multi-tissue	Pritchard

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99157400-99177400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:99157400-99177400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:99157800-99172200	Strong transcription	HUES64 Cell Line	embryonic stem cell
4	chr7:99157800-99172800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr7:99158200-99171800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr7:99158200-99172600	Strong transcription	Primary neutrophils fromperipheralblood	blood
7	chr7:99158200-99173000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:99158400-99172000	Strong transcription	Primary B cells from peripheral blood	blood
9	chr7:99158400-99172800	Strong transcription	Fetal Intestine Large	intestine
10	chr7:99158600-99171800	Strong transcription	Primary T cells fromperipheralblood	blood
11	chr7:99158800-99172800	Strong transcription	Primary B cells from cord blood	blood
12	chr7:99158800-99172800	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr7:99159200-99172400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr7:99159800-99172800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr7:99160000-99171800	Strong transcription	Dnd41	blood
16	chr7:99160000-99173200	Strong transcription	Fetal Thymus	thymus
17	chr7:99160400-99171800	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr7:99160400-99177600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr7:99160600-99171800	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr7:99160600-99177000	Weak transcription	Stomach Mucosa	stomach
21	chr7:99160800-99172600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr7:99160800-99177400	Weak transcription	HUVEC	blood vessel
23	chr7:99161400-99172800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr7:99161600-99177400	Weak transcription	Esophagus	oesophagus
25	chr7:99161800-99172000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr7:99161800-99177400	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr7:99162000-99177600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr7:99162200-99172600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr7:99162200-99172800	Strong transcription	Placenta	Placenta
30	chr7:99162200-99173200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr7:99162200-99177200	Weak transcription	Gastric	stomach
32	chr7:99162200-99177400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr7:99162200-99177400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr7:99162400-99172000	Strong transcription	Muscle Satellite Cultured Cells	--
35	chr7:99162600-99171600	Strong transcription	NHLF	lung
36	chr7:99162600-99172400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr7:99162600-99172800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr7:99162600-99172800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr7:99162600-99172800	Strong transcription	NH-A	brain
40	chr7:99162600-99172800	Strong transcription	NHDF-Ad	bronchial
41	chr7:99162600-99177000	Weak transcription	Fetal Brain Male	brain
42	chr7:99162600-99177600	Weak transcription	Small Intestine	intestine
43	chr7:99162800-99173000	Weak transcription	Hela-S3	cervix
44	chr7:99162800-99173400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr7:99163200-99177400	Weak transcription	Pancreas	Pancrea
46	chr7:99164000-99177400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr7:99164400-99175600	Weak transcription	Psoas Muscle	Psoas
48	chr7:99164400-99177400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr7:99164600-99177400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr7:99165800-99171600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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