Variant report

Variant	rs2717522
Chromosome Location	chr2:37116413-37116414
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	chr2:37116050..37118229-chr2:37119836..37122372,2	K562	blood:
2	chr2:37112252..37114608-chr2:37115570..37119781,3	MCF-7	breast:

Extended variants
information (count: 120 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:115)

rs_ID	r²[population]
rs1008838	0.86[CHB][hapmap]
rs10164948	0.80[EUR][1000 genomes]
rs10166161	0.80[EUR][1000 genomes]
rs10176081	0.80[EUR][1000 genomes]
rs10176124	0.80[EUR][1000 genomes]
rs10180003	0.80[EUR][1000 genomes]
rs10182741	1.00[CHB][hapmap];0.88[EUR][1000 genomes]
rs10183626	0.81[EUR][1000 genomes]
rs10185737	0.88[EUR][1000 genomes]
rs10189328	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[YRI][hapmap];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10189918	0.88[EUR][1000 genomes]
rs10201963	1.00[CHB][hapmap];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10202311	0.88[EUR][1000 genomes]
rs1043290	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10490659	1.00[CHB][hapmap];0.93[CHD][hapmap];0.86[GIH][hapmap];0.92[ASN][1000 genomes]
rs10495868	1.00[CHB][hapmap]
rs10865120	0.86[CHB][hapmap]
rs11124552	1.00[CHB][hapmap];0.93[CHD][hapmap];0.88[TSI][hapmap];0.85[ASN][1000 genomes]
rs11673811	0.80[EUR][1000 genomes]
rs11674211	1.00[CHB][hapmap]
rs11675109	1.00[CHB][hapmap]
rs11676225	1.00[CHB][hapmap];0.93[CHD][hapmap];0.87[GIH][hapmap];0.92[ASN][1000 genomes]
rs11678303	1.00[CHB][hapmap];0.92[ASN][1000 genomes]
rs11678807	0.80[EUR][1000 genomes]
rs11680617	0.80[EUR][1000 genomes]
rs11680663	0.80[EUR][1000 genomes]
rs11682966	1.00[CHB][hapmap];0.93[CHD][hapmap];0.87[GIH][hapmap];0.96[ASN][1000 genomes]
rs11685600	0.88[EUR][1000 genomes]
rs11904023	1.00[CHB][hapmap]
rs12328274	0.83[ASN][1000 genomes]
rs12479195	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12624290	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.88[TSI][hapmap];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13385627	0.81[ASN][1000 genomes]
rs13388406	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13401327	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13408941	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13413438	1.00[CHB][hapmap];0.88[EUR][1000 genomes]
rs13432707	0.80[EUR][1000 genomes]
rs17020005	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs17020024	0.96[ASN][1000 genomes]
rs17020069	1.00[CHB][hapmap];0.96[YRI][hapmap];0.81[ASN][1000 genomes]
rs17020072	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs17020074	1.00[CHB][hapmap]
rs17020084	1.00[CHB][hapmap];0.88[EUR][1000 genomes]
rs17442690	0.85[ASN][1000 genomes]
rs17442739	0.85[ASN][1000 genomes]
rs1861433	1.00[CHB][hapmap];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1861434	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1861436	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2041828	0.81[EUR][1000 genomes]
rs2160379	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2216106	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[LWK][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2255330	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2287087	0.85[ASN][1000 genomes]
rs2302658	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2372812	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2540918	1.00[CEU][hapmap];0.87[YRI][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2540919	1.00[CEU][hapmap];0.86[CHB][hapmap];0.89[YRI][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2540920	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2540923	0.82[ASW][hapmap]
rs2540925	0.91[ASN][1000 genomes]
rs2540931	0.91[ASN][1000 genomes]
rs2540936	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2541000	0.86[CHB][hapmap]
rs2691104	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2691109	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.89[LWK][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2691110	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap];0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2691111	0.88[ASW][hapmap];0.83[MKK][hapmap]
rs2691114	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2691115	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2691116	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2691118	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2691122	0.86[ASN][1000 genomes]
rs2717492	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2717494	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2717495	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2717496	0.82[ASN][1000 genomes]
rs2717500	0.82[ASN][1000 genomes]
rs2717501	1.00[CHB][hapmap];0.82[YRI][hapmap];0.92[ASN][1000 genomes]
rs2717505	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2717508	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2717509	1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2717510	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2717511	1.00[CHB][hapmap];0.81[GIH][hapmap];0.88[TSI][hapmap]
rs2717512	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2717516	0.93[ASN][1000 genomes]
rs2717518	1.00[CHB][hapmap];0.96[ASN][1000 genomes]
rs2717519	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2717520	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs28718824	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28754306	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2888418	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35622893	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3770775	1.00[CHB][hapmap];0.93[CHD][hapmap]
rs3845779	0.82[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap]
rs41486347	1.00[CHB][hapmap];0.93[CHD][hapmap];0.87[GIH][hapmap];0.91[ASN][1000 genomes]
rs4635515	1.00[CHB][hapmap]
rs4670651	0.86[CHB][hapmap]
rs55993128	0.92[ASN][1000 genomes]
rs56186144	0.92[ASN][1000 genomes]
rs57671539	0.92[ASN][1000 genomes]
rs57884362	0.94[ASN][1000 genomes]
rs58970461	0.92[ASN][1000 genomes]
rs6715033	0.91[ASN][1000 genomes]
rs6739553	0.96[ASN][1000 genomes]
rs6756876	0.91[ASN][1000 genomes]
rs6759472	0.81[EUR][1000 genomes]
rs723673	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73924932	0.83[ASN][1000 genomes]
rs7562109	1.00[CEU][hapmap];0.85[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];0.88[TSI][hapmap];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7579735	0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7581702	1.00[CHB][hapmap];0.88[TSI][hapmap]
rs9789527	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9789649	0.82[AMR][1000 genomes]
rs998321	1.00[ASW][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.80[LWK][hapmap];0.85[MKK][hapmap];0.83[YRI][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004483	chr2:36875235-37356812	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv535644	chr2:36875235-37356812	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv428395	chr2:36990348-37300352	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv456363	chr2:37109281-37235324	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
5	nsv581470	chr2:37109281-37235324	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37067600-37146200	Weak transcription	Psoas Muscle	Psoas
2	chr2:37075600-37139200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:37077200-37144400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr2:37077400-37136600	Weak transcription	Colon Smooth Muscle	Colon
5	chr2:37078200-37118400	Weak transcription	Fetal Brain Male	brain
6	chr2:37087400-37146200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:37094400-37154200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr2:37096400-37117000	Weak transcription	K562	blood
9	chr2:37096400-37143800	Weak transcription	Fetal Kidney	kidney
10	chr2:37096800-37154400	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr2:37099000-37116800	Weak transcription	A549	lung
12	chr2:37099200-37140200	Weak transcription	Colonic Mucosa	Colon
13	chr2:37100400-37116800	Weak transcription	Brain Cingulate Gyrus	brain
14	chr2:37101800-37119200	Weak transcription	GM12878-XiMat	blood
15	chr2:37103800-37117200	Weak transcription	HSMMtube	muscle
16	chr2:37103800-37121400	Weak transcription	Small Intestine	intestine
17	chr2:37103800-37146200	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr2:37104200-37117800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr2:37105000-37152600	Weak transcription	Rectal Smooth Muscle	rectum
20	chr2:37105000-37164600	Weak transcription	Lung	lung
21	chr2:37105200-37116600	Weak transcription	NHEK	skin
22	chr2:37105200-37117000	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr2:37105200-37117200	Weak transcription	HMEC	breast
24	chr2:37105200-37118400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr2:37105200-37125400	Weak transcription	Brain Hippocampus Middle	brain
26	chr2:37105200-37136200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr2:37105200-37139200	Weak transcription	Aorta	Aorta
28	chr2:37105200-37141200	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr2:37105200-37144000	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr2:37105200-37154400	Weak transcription	Esophagus	oesophagus
31	chr2:37105200-37157800	Weak transcription	Pancreas	Pancrea
32	chr2:37105200-37164600	Weak transcription	Spleen	Spleen
33	chr2:37105800-37116800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr2:37105800-37146400	Weak transcription	Right Ventricle	heart
35	chr2:37109000-37117600	Strong transcription	Primary B cells from cord blood	blood
36	chr2:37110000-37135800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr2:37110200-37120600	Weak transcription	HepG2	liver
38	chr2:37110800-37119400	Weak transcription	Fetal Stomach	stomach
39	chr2:37110800-37142800	Weak transcription	Gastric	stomach
40	chr2:37111000-37120200	Weak transcription	Fetal Lung	lung
41	chr2:37111200-37116600	Weak transcription	Fetal Intestine Small	intestine
42	chr2:37111200-37117000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr2:37111200-37117000	Weak transcription	Fetal Muscle Leg	muscle
44	chr2:37111200-37117000	Weak transcription	Thymus	Thymus
45	chr2:37111200-37117200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr2:37111200-37118200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr2:37111200-37119200	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr2:37111200-37120800	Weak transcription	Liver	Liver
49	chr2:37111200-37122400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr2:37111200-37140600	Weak transcription	Fetal Brain Female	brain

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