Variant report

Variant	rs2793805
Chromosome Location	chr1:179195777-179195778
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:179191113..179192796-chr1:179194201..179196136,2	K562	blood:
2	chr1:179194698..179198189-chr1:179199454..179203395,4	K562	blood:
3	chr1:179187733..179190890-chr1:179192306..179195949,3	K562	blood:

Variant related genes	Relation type
ENSG00000225711	Chromatin interaction

Extended variants
information (count: 105 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:105)

rs_ID	r²[population]
rs1046385	1.00[ASW][hapmap];0.94[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.85[TSI][hapmap]
rs1078872	0.88[GIH][hapmap]
rs10798670	0.81[CHB][hapmap]
rs10913690	0.83[GIH][hapmap]
rs10913691	0.89[EUR][1000 genomes]
rs10913697	0.88[GIH][hapmap];0.80[TSI][hapmap]
rs10913733	0.81[CHB][hapmap]
rs1173077	0.81[CHD][hapmap];0.95[GIH][hapmap];0.81[JPT][hapmap];0.80[TSI][hapmap]
rs12022539	0.95[CEU][hapmap];0.82[EUR][1000 genomes]
rs12026030	0.82[EUR][1000 genomes]
rs12028643	0.82[EUR][1000 genomes]
rs12031894	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs12035050	0.83[EUR][1000 genomes]
rs12045521	0.83[EUR][1000 genomes]
rs12049122	0.81[EUR][1000 genomes]
rs12049237	0.95[CEU][hapmap];0.82[EUR][1000 genomes]
rs12073970	0.86[CHB][hapmap]
rs12130276	0.88[GIH][hapmap];0.80[TSI][hapmap]
rs12402165	0.95[CEU][hapmap];0.82[EUR][1000 genomes]
rs12404921	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs12405133	0.81[CHB][hapmap]
rs12408349	1.00[ASW][hapmap];0.95[CEU][hapmap];0.81[CHB][hapmap];1.00[LWK][hapmap];0.86[MEX][hapmap];1.00[MKK][hapmap];0.81[TSI][hapmap];1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs12408668	0.82[EUR][1000 genomes]
rs1325194	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.90[TSI][hapmap];0.89[EUR][1000 genomes]
rs13306731	0.81[CHB][hapmap]
rs13374852	0.81[CHB][hapmap]
rs1475798	1.00[ASW][hapmap];0.89[CEU][hapmap];0.82[EUR][1000 genomes]
rs16853917	0.95[CEU][hapmap];0.80[EUR][1000 genomes]
rs16853936	0.95[CEU][hapmap];0.83[EUR][1000 genomes]
rs17362081	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs1856968	0.88[GIH][hapmap];0.80[TSI][hapmap]
rs2050922	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2066162	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2068234	0.80[EUR][1000 genomes]
rs2130576	0.88[GIH][hapmap]
rs2152317	0.95[CEU][hapmap];0.80[EUR][1000 genomes]
rs2171959	0.88[GIH][hapmap];0.80[TSI][hapmap]
rs2493124	0.88[GIH][hapmap];0.80[TSI][hapmap]
rs2636266	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[MEX][hapmap];0.87[MKK][hapmap];0.97[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2636274	0.88[GIH][hapmap];0.80[TSI][hapmap]
rs2636276	0.83[GIH][hapmap];0.80[TSI][hapmap]
rs2636278	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs2636280	0.88[GIH][hapmap]
rs2636281	0.81[AMR][1000 genomes]
rs2636287	0.84[JPT][hapmap]
rs2636289	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2636290	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.87[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs2791941	0.83[GIH][hapmap];0.80[TSI][hapmap]
rs2793791	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2793796	0.88[GIH][hapmap];0.80[TSI][hapmap]
rs2793797	0.88[GIH][hapmap];0.80[TSI][hapmap]
rs2793799	0.81[CHD][hapmap];0.95[GIH][hapmap];0.81[JPT][hapmap];0.80[TSI][hapmap]
rs2793804	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2793807	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2793808	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2793812	0.85[GIH][hapmap]
rs2793816	0.88[GIH][hapmap]
rs2816167	0.81[AMR][1000 genomes]
rs2816179	0.89[EUR][1000 genomes]
rs2816180	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2816203	0.88[GIH][hapmap]
rs2816206	0.81[AMR][1000 genomes]
rs2816209	0.92[GIH][hapmap];0.81[JPT][hapmap];0.80[TSI][hapmap];0.81[AMR][1000 genomes]
rs2816213	0.88[GIH][hapmap]
rs3122378	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3210839	0.87[GIH][hapmap];0.81[JPT][hapmap]
rs3753524	0.95[CEU][hapmap];0.83[EUR][1000 genomes]
rs380951	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3813642	0.83[GIH][hapmap]
rs3813643	0.83[GIH][hapmap]
rs3818433	1.00[ASW][hapmap];1.00[CEU][hapmap];0.88[CHB][hapmap];0.89[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.90[EUR][1000 genomes]
rs4077551	0.81[CHB][hapmap]
rs4077552	0.81[CHB][hapmap]
rs410589	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4133136	0.80[CHB][hapmap]
rs413881	0.85[EUR][1000 genomes]
rs425858	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4478776	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs451088	0.90[GIH][hapmap]
rs4651014	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs58284152	0.82[EUR][1000 genomes]
rs58948941	0.86[AFR][1000 genomes]
rs59777301	1.00[AFR][1000 genomes]
rs60595009	0.82[EUR][1000 genomes]
rs61821690	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61821735	0.84[EUR][1000 genomes]
rs61821737	0.81[EUR][1000 genomes]
rs61821738	0.81[EUR][1000 genomes]
rs61821739	0.82[EUR][1000 genomes]
rs61821740	0.82[EUR][1000 genomes]
rs61824363	0.82[EUR][1000 genomes]
rs61824364	0.82[EUR][1000 genomes]
rs61824365	0.80[EUR][1000 genomes]
rs61824368	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs61824371	0.83[EUR][1000 genomes]
rs61824388	0.83[EUR][1000 genomes]
rs61824389	0.83[EUR][1000 genomes]
rs6425512	1.00[ASW][hapmap]
rs6675772	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs7414502	0.82[EUR][1000 genomes]
rs7544801	1.00[ASW][hapmap]
rs7547733	1.00[ASW][hapmap];1.00[LWK][hapmap];0.87[MKK][hapmap]
rs915337	0.90[GIH][hapmap]
rs931441	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9728480	0.88[GIH][hapmap];0.80[TSI][hapmap]

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs2793805	ABL2	cis	parietal	SCAN
rs2793805	LHX4	cis	parietal	SCAN
rs2793805	FAM20B	cis	parietal	SCAN
rs2793805	ABL2	cis	cerebellum	SCAN
rs2793805	IER5	cis	cerebellum	SCAN

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:179139400-179196800	Weak transcription	Pancreas	Pancrea
2	chr1:179157400-179197400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr1:179157400-179197600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr1:179169000-179197400	Weak transcription	NHEK	skin
5	chr1:179170200-179197200	Weak transcription	Fetal Intestine Large	intestine
6	chr1:179176200-179195800	Weak transcription	Colon Smooth Muscle	Colon
7	chr1:179176200-179195800	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr1:179176200-179196600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr1:179176200-179197600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:179176400-179196200	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr1:179176400-179197000	Weak transcription	Fetal Brain Male	brain
12	chr1:179176400-179197400	Weak transcription	Fetal Lung	lung
13	chr1:179176400-179197600	Weak transcription	Left Ventricle	heart
14	chr1:179176600-179196200	Weak transcription	Brain Hippocampus Middle	brain
15	chr1:179177000-179196000	Weak transcription	Fetal Brain Female	brain
16	chr1:179177000-179197600	Weak transcription	HSMMtube	muscle
17	chr1:179177400-179197200	Weak transcription	Brain Germinal Matrix	brain
18	chr1:179177800-179196600	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr1:179178000-179196000	Weak transcription	Aorta	Aorta
20	chr1:179178000-179197600	Weak transcription	Gastric	stomach
21	chr1:179178400-179197600	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr1:179178600-179197600	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr1:179178600-179197600	Weak transcription	NH-A	brain
24	chr1:179178800-179197400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr1:179179200-179196000	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr1:179179200-179197400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr1:179179800-179197200	Weak transcription	Thymus	Thymus
28	chr1:179180200-179197600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr1:179180800-179197200	Weak transcription	Stomach Smooth Muscle	stomach
30	chr1:179181600-179197600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr1:179183200-179196000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr1:179184200-179196800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr1:179184400-179197600	Weak transcription	Fetal Thymus	thymus
34	chr1:179184600-179196200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr1:179184600-179196600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr1:179184800-179197600	Weak transcription	HMEC	breast
37	chr1:179185400-179197400	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr1:179185600-179196400	Weak transcription	Brain Cingulate Gyrus	brain
39	chr1:179185600-179197600	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr1:179185800-179197600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr1:179186600-179197600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr1:179187200-179196400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr1:179187400-179196400	Weak transcription	Dnd41	blood
44	chr1:179187400-179197400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr1:179187600-179197400	Weak transcription	Osteobl	bone
46	chr1:179187600-179197600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr1:179187600-179197600	Weak transcription	HSMM	muscle
48	chr1:179187800-179197200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr1:179187800-179197600	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr1:179187800-179197600	Weak transcription	HUVEC	blood vessel

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