Variant report

Variant	rs11124552
Chromosome Location	chr2:37142754-37142755
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	chr2:37135486..37138382-chr2:37141654..37143991,3	K562	blood:

Extended variants
information (count: 119 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:114)

rs_ID	r²[population]
rs1008838	0.86[CHB][hapmap]
rs1015600	0.95[EUR][1000 genomes]
rs10166161	0.87[ASN][1000 genomes]
rs10182741	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs10185737	0.89[ASN][1000 genomes]
rs10189328	1.00[CHB][hapmap];0.98[ASN][1000 genomes]
rs10189918	0.90[ASN][1000 genomes]
rs10201963	1.00[CHB][hapmap];0.98[ASN][1000 genomes]
rs10202311	0.87[ASN][1000 genomes]
rs10209808	0.90[ASN][1000 genomes]
rs10490659	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10495868	1.00[CHB][hapmap]
rs10865120	0.86[CHB][hapmap]
rs11124549	0.89[EUR][1000 genomes]
rs11674211	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs11675109	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap]
rs11676225	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11678303	1.00[CHB][hapmap];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11682966	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11685600	0.87[ASN][1000 genomes]
rs11686605	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11691236	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11887829	0.84[ASN][1000 genomes]
rs11904023	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs12328274	0.98[ASN][1000 genomes]
rs12479195	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs12616770	0.92[ASN][1000 genomes]
rs12624290	1.00[CHB][hapmap];0.93[CHD][hapmap];0.87[ASN][1000 genomes]
rs13385627	0.96[ASN][1000 genomes]
rs13385823	0.84[ASN][1000 genomes]
rs13388406	0.90[ASN][1000 genomes]
rs13401327	1.00[CHB][hapmap];0.92[ASN][1000 genomes]
rs13408941	0.98[ASN][1000 genomes]
rs13413438	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs13424317	0.94[ASN][1000 genomes]
rs17020005	1.00[CHB][hapmap];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17020024	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17020069	1.00[CHB][hapmap];0.96[ASN][1000 genomes]
rs17020072	1.00[CHB][hapmap];0.96[ASN][1000 genomes]
rs17020074	1.00[CHB][hapmap];0.92[ASN][1000 genomes]
rs17020084	1.00[CHB][hapmap];0.89[ASN][1000 genomes]
rs17442690	0.85[ASN][1000 genomes]
rs17442739	0.85[ASN][1000 genomes]
rs1861433	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs1861434	0.82[ASN][1000 genomes]
rs1861436	1.00[CHB][hapmap];0.93[CHD][hapmap];0.88[TSI][hapmap];0.82[ASN][1000 genomes]
rs2160379	0.89[ASN][1000 genomes]
rs2216106	1.00[CHB][hapmap];0.93[CHD][hapmap];0.87[TSI][hapmap];0.89[ASN][1000 genomes]
rs2255330	0.83[ASN][1000 genomes]
rs2287087	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2302658	0.96[ASN][1000 genomes]
rs2540918	0.87[ASN][1000 genomes]
rs2540919	0.86[CHB][hapmap];0.85[ASN][1000 genomes]
rs2540920	0.87[ASN][1000 genomes]
rs2540925	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2540931	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2540936	0.91[ASN][1000 genomes]
rs2540939	0.84[EUR][1000 genomes]
rs2540940	0.81[ASN][1000 genomes]
rs2541000	0.86[CHB][hapmap]
rs2541002	0.89[EUR][1000 genomes]
rs2691104	1.00[CHB][hapmap];0.93[CHD][hapmap];0.88[TSI][hapmap];0.87[ASN][1000 genomes]
rs2691109	1.00[CHB][hapmap];0.93[CHD][hapmap];0.88[TSI][hapmap];0.89[ASN][1000 genomes]
rs2691110	1.00[CHB][hapmap];0.89[ASN][1000 genomes]
rs2691114	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs2691115	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs2691116	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs2691118	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs2691122	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2706805	0.85[EUR][1000 genomes]
rs2717492	0.87[ASN][1000 genomes]
rs2717494	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs2717495	0.87[ASN][1000 genomes]
rs2717496	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2717500	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2717501	1.00[CHB][hapmap];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2717505	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs2717508	0.83[ASN][1000 genomes]
rs2717509	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs2717510	1.00[CHB][hapmap];0.93[CHD][hapmap]
rs2717511	0.92[ASW][hapmap];1.00[CHB][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs2717512	1.00[CHB][hapmap];0.93[CHD][hapmap];0.88[TSI][hapmap]
rs2717516	0.82[ASN][1000 genomes]
rs2717518	1.00[CHB][hapmap];0.84[YRI][hapmap];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2717519	0.85[ASN][1000 genomes]
rs2717520	0.83[ASN][1000 genomes]
rs2717522	1.00[CHB][hapmap];0.93[CHD][hapmap];0.88[TSI][hapmap];0.85[ASN][1000 genomes]
rs28718824	1.00[CHB][hapmap];0.93[CHD][hapmap];0.88[GIH][hapmap];0.88[TSI][hapmap];0.98[ASN][1000 genomes]
rs28754306	0.98[ASN][1000 genomes]
rs35622893	0.96[ASN][1000 genomes]
rs3770775	1.00[CHB][hapmap];0.85[CHD][hapmap];0.87[ASN][1000 genomes]
rs3845779	1.00[CHB][hapmap];0.93[CHD][hapmap];0.81[ASN][1000 genomes]
rs41486347	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4635515	1.00[CHB][hapmap]
rs4670651	0.86[CHB][hapmap]
rs55993128	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56186144	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57671539	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57884362	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58970461	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59420011	0.84[EUR][1000 genomes]
rs59854977	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6715033	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6739553	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6756876	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs723673	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs73924932	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73924949	0.89[ASN][1000 genomes]
rs73924952	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7562109	0.85[CHB][hapmap];0.90[ASN][1000 genomes]
rs7579735	0.96[ASN][1000 genomes]
rs7581702	1.00[CHB][hapmap]
rs7583071	0.84[ASN][1000 genomes]
rs998321	1.00[CHB][hapmap];0.86[CHD][hapmap];0.87[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:106 , 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	chr2:37077200-37144400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr2:37087400-37146200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:37094400-37154200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr2:37096400-37143800	Weak transcription	Fetal Kidney	kidney
6	chr2:37096800-37154400	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr2:37103800-37146200	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr2:37105000-37152600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr2:37105000-37164600	Weak transcription	Lung	lung
10	chr2:37105200-37144000	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr2:37105200-37154400	Weak transcription	Esophagus	oesophagus
12	chr2:37105200-37157800	Weak transcription	Pancreas	Pancrea
13	chr2:37105200-37164600	Weak transcription	Spleen	Spleen
14	chr2:37105800-37146400	Weak transcription	Right Ventricle	heart
15	chr2:37110800-37142800	Weak transcription	Gastric	stomach
16	chr2:37112400-37145800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr2:37114000-37145800	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr2:37117400-37144400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr2:37117600-37153600	Weak transcription	Hela-S3	cervix
20	chr2:37120000-37153800	Weak transcription	Stomach Smooth Muscle	stomach
21	chr2:37120200-37149200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr2:37120600-37168000	Weak transcription	Thymus	Thymus
23	chr2:37120800-37166400	Weak transcription	Placenta	Placenta
24	chr2:37121000-37145200	Weak transcription	Fetal Lung	lung
25	chr2:37121200-37142800	Weak transcription	Liver	Liver
26	chr2:37121200-37145800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr2:37121200-37148600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr2:37121200-37153600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr2:37121600-37146400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr2:37121800-37145800	Weak transcription	A549	lung
31	chr2:37122800-37143200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr2:37126200-37153600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr2:37127800-37157200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr2:37130600-37143400	Weak transcription	Brain Anterior Caudate	brain
35	chr2:37131600-37153200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr2:37131800-37153600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr2:37132000-37145800	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr2:37132200-37142800	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr2:37132200-37153600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr2:37132400-37192400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr2:37134000-37143000	Weak transcription	Fetal Intestine Small	intestine
42	chr2:37134600-37192400	Weak transcription	Fetal Stomach	stomach
43	chr2:37136400-37178800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr2:37137800-37145800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr2:37138000-37143000	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr2:37138200-37144200	Enhancers	Primary neutrophils fromperipheralblood	blood
47	chr2:37138400-37143600	Weak transcription	HSMMtube	muscle
48	chr2:37138400-37152000	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr2:37138600-37160600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr2:37138800-37142800	Weak transcription	Brain Substantia Nigra	brain

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