Variant report

Variant	rs7536563
Chromosome Location	chr1:93349046-93349047
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:93342948..93345032-chr1:93349007..93351631,2	K562	blood:

Extended variants
information (count: 108 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:107)

rs_ID	r²[population]
rs1003116	0.84[CEU][hapmap];1.00[JPT][hapmap]
rs10493863	0.87[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10782944	0.92[CHD][hapmap]
rs10782945	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10782946	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10874744	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10874746	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.91[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10874747	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10874751	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10874753	0.87[CEU][hapmap];0.92[GIH][hapmap];0.90[TSI][hapmap];0.85[EUR][1000 genomes]
rs11164830	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11164835	0.96[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.92[TSI][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11164836	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11164840	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11164842	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11164843	0.96[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11164844	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11164845	0.95[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11423955	0.85[ASN][1000 genomes]
rs11577636	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11578986	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11587920	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12059883	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12060952	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12065253	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12066638	0.96[CEU][hapmap];1.00[CHB][hapmap];0.84[CHD][hapmap];0.92[TSI][hapmap];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12069727	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12074608	0.96[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12081675	0.87[CEU][hapmap]
rs12745968	0.96[CEU][hapmap];1.00[CHB][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1337107	1.00[JPT][hapmap]
rs1360366	0.94[ASW][hapmap];1.00[CEU][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.93[LWK][hapmap];0.93[MKK][hapmap];0.97[TSI][hapmap];0.93[YRI][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1535372	0.84[CEU][hapmap];1.00[JPT][hapmap]
rs17380908	0.96[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2025100	0.92[CHD][hapmap]
rs2255717	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2255723	0.96[CEU][hapmap];1.00[CHB][hapmap];0.84[CHD][hapmap];0.92[TSI][hapmap];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2263247	0.96[CEU][hapmap];1.00[CHB][hapmap];0.84[CHD][hapmap];0.92[TSI][hapmap];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2391177	0.96[CEU][hapmap];1.00[CHB][hapmap];0.84[CHD][hapmap];0.92[TSI][hapmap];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2481710	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2481711	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2481712	0.87[CEU][hapmap];1.00[CHB][hapmap];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2481713	0.96[CEU][hapmap];1.00[CHB][hapmap];0.84[CHD][hapmap];0.92[TSI][hapmap];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2481714	0.90[EUR][1000 genomes]
rs2492293	0.89[EUR][1000 genomes]
rs2492294	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2774945	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2774946	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2774949	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2774950	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2774952	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2774953	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2774954	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2774955	0.84[EUR][1000 genomes]
rs2774956	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2811589	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2811590	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2811591	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2811593	0.96[CEU][hapmap];1.00[CHB][hapmap];0.84[CHD][hapmap];0.92[TSI][hapmap];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2811594	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2811596	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2811597	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2811598	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2811600	0.96[CEU][hapmap];1.00[CHB][hapmap];0.84[CHD][hapmap];0.92[TSI][hapmap];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2811602	0.84[CHD][hapmap]
rs2893225	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34084844	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34389767	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34398175	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35367625	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4300228	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4308991	1.00[CHB][hapmap]
rs4351651	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4420089	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4450029	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4561051	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4592265	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4847221	0.92[CHD][hapmap]
rs4847267	0.84[CEU][hapmap];1.00[JPT][hapmap]
rs4847378	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4847384	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6604007	0.83[CEU][hapmap];1.00[JPT][hapmap]
rs6604014	0.84[CEU][hapmap];1.00[JPT][hapmap]
rs6604028	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6604029	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6604030	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6604031	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6659942	0.84[CHD][hapmap]
rs6666831	0.84[CEU][hapmap]
rs6680578	1.00[JPT][hapmap]
rs6694051	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6697543	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6698082	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6698179	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6698233	0.96[CEU][hapmap];1.00[CHB][hapmap];0.84[CHD][hapmap];0.92[TSI][hapmap];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6700585	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7417198	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7515257	0.96[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.92[TSI][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7517935	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7542608	0.96[CEU][hapmap];1.00[CHB][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.92[TSI][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7550347	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7550660	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9439948	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9440127	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9440134	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs949915	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9651257	0.96[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008602	chr1:93176811-93640808	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7536563	BARHL2	cis	parietal	SCAN
rs7536563	KIAA1107	cis	cerebellum	SCAN
rs7536563	MTF2	cis	cerebellum	SCAN

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93336600-93349200	Weak transcription	HepG2	liver
2	chr1:93339000-93352600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr1:93340800-93351600	Weak transcription	Small Intestine	intestine
4	chr1:93344600-93351400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:93345600-93350000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr1:93347000-93350000	Enhancers	Primary T cells fromperipheralblood	blood
7	chr1:93347800-93350200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr1:93347800-93350400	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr1:93347800-93351000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr1:93348000-93349600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr1:93348000-93349800	Enhancers	Primary B cells from cord blood	blood
12	chr1:93348000-93349800	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr1:93348000-93350000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr1:93348000-93350000	Enhancers	Thymus	Thymus
15	chr1:93348000-93350800	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr1:93348000-93351000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr1:93348200-93349200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr1:93348200-93349400	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr1:93348200-93349400	Flanking Active TSS	Dnd41	blood
20	chr1:93348200-93349400	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr1:93348200-93349600	Enhancers	Fetal Thymus	thymus
22	chr1:93348200-93349800	Enhancers	Primary B cells from peripheral blood	blood
23	chr1:93348400-93349200	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr1:93348400-93349200	Enhancers	Brain Substantia Nigra	brain
25	chr1:93348400-93349200	Enhancers	GM12878-XiMat	blood
26	chr1:93348400-93349200	Enhancers	NHEK	skin
27	chr1:93348400-93349400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr1:93348400-93349400	Enhancers	Brain Anterior Caudate	brain
29	chr1:93348400-93349600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
30	chr1:93348400-93349600	Enhancers	Sigmoid Colon	Sigmoid Colon
31	chr1:93348400-93350800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr1:93348400-93350800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr1:93348600-93349200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr1:93348600-93349200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr1:93348600-93349600	Enhancers	Brain Hippocampus Middle	brain
36	chr1:93348800-93350800	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr1:93348800-93352400	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr1:93349000-93349200	Enhancers	Aorta	Aorta
39	chr1:93349000-93349200	Enhancers	Left Ventricle	heart
40	chr1:93349000-93350800	Enhancers	Primary T cells from cord blood	blood
41	chr1:93349000-93354800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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