Variant report

Variant	rs2691104
Chromosome Location	chr2:37103690-37103691
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	chr2:37102067..37105059-chr2:37110141..37111787,2	K562	blood:

Extended variants
information (count: 124 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:121)

rs_ID	r²[population]
rs1008838	0.85[CHB][hapmap]
rs1015600	0.81[ASN][1000 genomes]
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];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10189918	0.88[EUR][1000 genomes]
rs10201963	1.00[CHB][hapmap];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10202311	0.88[EUR][1000 genomes]
rs1043290	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10490659	1.00[CHB][hapmap];0.93[CHD][hapmap];0.86[GIH][hapmap];0.94[ASN][1000 genomes]
rs10495868	1.00[CHB][hapmap]
rs10865120	0.85[CHB][hapmap]
rs11124549	0.81[ASN][1000 genomes]
rs11124552	1.00[CHB][hapmap];0.93[CHD][hapmap];0.88[TSI][hapmap];0.87[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];0.94[ASN][1000 genomes]
rs11678303	1.00[CHB][hapmap];0.94[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];0.98[ASN][1000 genomes]
rs11685600	0.88[EUR][1000 genomes]
rs11904023	1.00[CHB][hapmap]
rs12328274	0.85[ASN][1000 genomes]
rs12479195	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[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];1.00[ASN][1000 genomes]
rs13385627	0.83[ASN][1000 genomes]
rs13388406	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13401327	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13408941	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13413438	1.00[CHB][hapmap];0.88[EUR][1000 genomes]
rs13424317	0.81[ASN][1000 genomes]
rs13432707	0.80[EUR][1000 genomes]
rs17020005	1.00[CHB][hapmap];0.92[ASN][1000 genomes]
rs17020024	0.98[ASN][1000 genomes]
rs17020069	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs17020072	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs17020074	1.00[CHB][hapmap]
rs17020084	1.00[CHB][hapmap];0.88[EUR][1000 genomes]
rs17442690	0.87[ASN][1000 genomes]
rs17442739	0.87[ASN][1000 genomes]
rs1861433	1.00[CHB][hapmap];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1861434	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[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];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2041828	0.81[EUR][1000 genomes]
rs2160379	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2216106	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2255330	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2287087	0.87[ASN][1000 genomes]
rs2302658	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2372812	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2540918	1.00[CEU][hapmap];0.91[YRI][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2540919	1.00[CEU][hapmap];0.85[CHB][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2540920	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2540925	0.92[ASN][1000 genomes]
rs2540931	0.92[ASN][1000 genomes]
rs2540936	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2540939	0.81[ASN][1000 genomes]
rs2540941	0.81[ASN][1000 genomes]
rs2541000	0.85[CHB][hapmap]
rs2691109	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2691110	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2691114	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2691115	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2691116	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2691118	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2691122	0.87[ASN][1000 genomes]
rs2717492	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2717494	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2717495	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2717496	0.84[ASN][1000 genomes]
rs2717500	0.84[ASN][1000 genomes]
rs2717501	1.00[CHB][hapmap];0.94[ASN][1000 genomes]
rs2717505	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2717507	0.81[AMR][1000 genomes]
rs2717508	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2717509	1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2717510	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2717511	1.00[CHB][hapmap];0.81[GIH][hapmap];0.88[TSI][hapmap];0.81[ASN][1000 genomes]
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];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2717516	0.94[ASN][1000 genomes]
rs2717518	1.00[CHB][hapmap];0.98[ASN][1000 genomes]
rs2717519	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2717520	0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2717522	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]
rs28718824	0.94[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28754306	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2888418	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35622893	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3770775	1.00[CHB][hapmap];0.93[CHD][hapmap]
rs3845779	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs41486347	1.00[CHB][hapmap];0.93[CHD][hapmap];0.87[GIH][hapmap];0.92[ASN][1000 genomes]
rs4635515	1.00[CHB][hapmap]
rs4670651	0.85[CHB][hapmap]
rs55993128	0.94[ASN][1000 genomes]
rs56186144	0.94[ASN][1000 genomes]
rs57671539	0.94[ASN][1000 genomes]
rs57884362	0.96[ASN][1000 genomes]
rs58970461	0.94[ASN][1000 genomes]
rs59854977	0.81[ASN][1000 genomes]
rs6715033	0.92[ASN][1000 genomes]
rs6739553	0.98[ASN][1000 genomes]
rs6756876	0.92[ASN][1000 genomes]
rs6759472	0.81[EUR][1000 genomes]
rs723673	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73924932	0.85[ASN][1000 genomes]
rs73924952	0.81[ASN][1000 genomes]
rs7562109	1.00[CEU][hapmap];0.82[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];0.88[TSI][hapmap];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7579735	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7581702	1.00[CHB][hapmap];0.88[TSI][hapmap]
rs9789527	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9789649	0.81[ASN][1000 genomes]
rs998321	0.82[ASW][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37065800-37104200	Weak transcription	Right Ventricle	heart
2	chr2:37067600-37146200	Weak transcription	Psoas Muscle	Psoas
3	chr2:37075600-37139200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:37075800-37106600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr2:37076800-37111600	Weak transcription	Brain Germinal Matrix	brain
6	chr2:37077000-37116200	Weak transcription	Hela-S3	cervix
7	chr2:37077000-37116200	Weak transcription	NHLF	lung
8	chr2:37077200-37144400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr2:37077400-37136600	Weak transcription	Colon Smooth Muscle	Colon
10	chr2:37078200-37118400	Weak transcription	Fetal Brain Male	brain
11	chr2:37079200-37111000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr2:37080600-37105800	Strong transcription	Primary B cells from cord blood	blood
13	chr2:37082200-37115600	Weak transcription	Stomach Mucosa	stomach
14	chr2:37083800-37108000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr2:37087400-37146200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr2:37090600-37105600	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr2:37090800-37105200	Strong transcription	Adipose Nuclei	Adipose
18	chr2:37090800-37114200	Strong transcription	Primary B cells from peripheral blood	blood
19	chr2:37091000-37105800	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr2:37091000-37114000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr2:37091200-37114400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr2:37091400-37105800	Strong transcription	Primary neutrophils fromperipheralblood	blood
23	chr2:37092800-37115600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr2:37093200-37105800	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr2:37094200-37113400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr2:37094400-37110400	Weak transcription	NH-A	brain
27	chr2:37094400-37154200	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr2:37094600-37104800	Weak transcription	NHEK	skin
29	chr2:37095800-37112600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr2:37096000-37111200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr2:37096400-37106000	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr2:37096400-37110800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr2:37096400-37117000	Weak transcription	K562	blood
34	chr2:37096400-37143800	Weak transcription	Fetal Kidney	kidney
35	chr2:37096800-37154400	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr2:37098000-37112400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr2:37098400-37103800	Strong transcription	Cortex derived primary cultured neurospheres	brain
38	chr2:37098400-37105200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr2:37098400-37105400	Strong transcription	Primary T helper cells PMA-I stimulated	--
40	chr2:37098400-37107400	Strong transcription	Fetal Muscle Trunk	muscle
41	chr2:37098400-37109800	Strong transcription	Primary T cells from cord blood	blood
42	chr2:37098800-37105200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr2:37099000-37104200	Strong transcription	Left Ventricle	heart
44	chr2:37099000-37105800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr2:37099000-37105800	Strong transcription	Fetal Thymus	thymus
46	chr2:37099000-37116800	Weak transcription	A549	lung
47	chr2:37099200-37105800	Strong transcription	Fetal Stomach	stomach
48	chr2:37099200-37106600	Strong transcription	Sigmoid Colon	Sigmoid Colon
49	chr2:37099200-37112000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr2:37099200-37140200	Weak transcription	Colonic Mucosa	Colon

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