Variant report

Variant	rs6737680
Chromosome Location	chr2:39264475-39264476
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 94 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs10166557	1.00[EUR][1000 genomes]
rs10173380	1.00[EUR][1000 genomes]
rs10173563	1.00[EUR][1000 genomes]
rs10184046	0.80[ASW][hapmap];1.00[CEU][hapmap];0.85[LWK][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10184855	0.80[ASW][hapmap];1.00[CEU][hapmap];0.85[LWK][hapmap];1.00[EUR][1000 genomes]
rs10186842	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10188701	1.00[EUR][1000 genomes]
rs10189440	1.00[CEU][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10194533	1.00[EUR][1000 genomes]
rs10196863	1.00[EUR][1000 genomes]
rs10199955	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10202876	1.00[EUR][1000 genomes]
rs10203565	1.00[EUR][1000 genomes]
rs10207187	1.00[CEU][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10207984	1.00[EUR][1000 genomes]
rs10495882	1.00[EUR][1000 genomes]
rs12329307	1.00[EUR][1000 genomes]
rs13387231	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13394446	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13395448	1.00[EUR][1000 genomes]
rs13407659	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs13411756	1.00[CEU][hapmap];0.85[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13416725	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs13424493	1.00[EUR][1000 genomes]
rs13425165	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13428418	1.00[EUR][1000 genomes]
rs13432395	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1451278	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17023148	1.00[EUR][1000 genomes]
rs17023149	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17023214	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17023241	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17023292	1.00[CEU][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1901290	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2218850	1.00[EUR][1000 genomes]
rs2373466	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2373472	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs3099938	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs3099947	1.00[CEU][hapmap]
rs3099953	1.00[EUR][1000 genomes]
rs3099986	1.00[EUR][1000 genomes]
rs3099996	1.00[EUR][1000 genomes]
rs3099997	1.00[EUR][1000 genomes]
rs3112155	1.00[EUR][1000 genomes]
rs3112157	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs3112158	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs3112160	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs3112164	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs3112174	1.00[EUR][1000 genomes]
rs3112176	1.00[CEU][hapmap]
rs3112177	1.00[EUR][1000 genomes]
rs55890805	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56269328	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56724744	1.00[EUR][1000 genomes]
rs57359008	1.00[EUR][1000 genomes]
rs59259697	1.00[EUR][1000 genomes]
rs60703378	1.00[EUR][1000 genomes]
rs61596046	1.00[EUR][1000 genomes]
rs6544200	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs6722478	0.80[ASW][hapmap]
rs6734212	1.00[EUR][1000 genomes]
rs6751306	1.00[EUR][1000 genomes]
rs6753426	1.00[EUR][1000 genomes]
rs6754613	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs718312	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72906436	1.00[EUR][1000 genomes]
rs72906467	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72916836	1.00[EUR][1000 genomes]
rs72916860	1.00[EUR][1000 genomes]
rs72918710	1.00[EUR][1000 genomes]
rs72925431	1.00[EUR][1000 genomes]
rs72925433	1.00[EUR][1000 genomes]
rs72925439	1.00[EUR][1000 genomes]
rs7340303	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73930506	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7559586	1.00[EUR][1000 genomes]
rs7564481	1.00[CEU][hapmap];0.88[LWK][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7565814	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7571608	1.00[CEU][hapmap];0.95[LWK][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7571719	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7574214	1.00[CEU][hapmap];0.80[YRI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7582586	1.00[EUR][1000 genomes]
rs7583010	1.00[CEU][hapmap]
rs7589303	0.80[ASW][hapmap];1.00[CEU][hapmap];0.85[LWK][hapmap];1.00[EUR][1000 genomes]
rs7599990	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs9646968	1.00[EUR][1000 genomes]
rs9678084	1.00[CEU][hapmap];0.85[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873884	chr2:39154463-39332093	Genic enhancers Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	esv2755359	chr2:39169049-39417849	Strong transcription Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv873885	chr2:39200198-39573521	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv1010874	chr2:39255376-39604535	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
5	nsv535649	chr2:39255376-39604535	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
6	nsv531346	chr2:39263225-39606367	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
7	nsv533348	chr2:39264345-39596169	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39213800-39308000	Weak transcription	Pancreas	Pancrea
2	chr2:39227600-39303400	Weak transcription	Colonic Mucosa	Colon
3	chr2:39229800-39293000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr2:39232600-39300000	Weak transcription	Brain Cingulate Gyrus	brain
5	chr2:39235400-39312000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr2:39235600-39293200	Weak transcription	Fetal Brain Male	brain
7	chr2:39235600-39295800	Weak transcription	NHLF	lung
8	chr2:39235600-39298200	Weak transcription	Small Intestine	intestine
9	chr2:39235600-39327800	Weak transcription	Esophagus	oesophagus
10	chr2:39235800-39284000	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr2:39235800-39293600	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr2:39236000-39295600	Weak transcription	Aorta	Aorta
13	chr2:39236000-39295800	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr2:39236000-39305600	Weak transcription	Gastric	stomach
15	chr2:39236200-39305600	Weak transcription	Lung	lung
16	chr2:39240800-39299200	Weak transcription	Brain Hippocampus Middle	brain
17	chr2:39241600-39276400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr2:39241600-39292800	Weak transcription	GM12878-XiMat	blood
19	chr2:39243200-39299600	Weak transcription	Brain Substantia Nigra	brain
20	chr2:39244600-39295400	Weak transcription	Rectal Smooth Muscle	rectum
21	chr2:39246600-39274000	Weak transcription	Fetal Kidney	kidney
22	chr2:39250000-39282200	Weak transcription	Brain Anterior Caudate	brain
23	chr2:39250000-39292800	Weak transcription	Psoas Muscle	Psoas
24	chr2:39250200-39295200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr2:39250200-39313600	Weak transcription	Brain Angular Gyrus	brain
26	chr2:39250400-39295600	Weak transcription	NH-A	brain
27	chr2:39250400-39303000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr2:39250600-39279800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr2:39251000-39277000	Weak transcription	K562	blood
30	chr2:39251000-39293000	Weak transcription	HMEC	breast
31	chr2:39251600-39327200	Weak transcription	HUVEC	blood vessel
32	chr2:39252200-39279200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr2:39252400-39274000	Weak transcription	A549	lung
34	chr2:39252400-39292400	Weak transcription	NHEK	skin
35	chr2:39254200-39277200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr2:39255000-39299000	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr2:39255400-39278200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr2:39255600-39274600	Weak transcription	Brain Germinal Matrix	brain
39	chr2:39255800-39277600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr2:39258200-39277600	Weak transcription	Primary T cells from cord blood	blood
41	chr2:39258200-39293400	Weak transcription	Ovary	ovary
42	chr2:39258400-39270600	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr2:39258400-39273800	Weak transcription	Fetal Brain Female	brain
44	chr2:39258400-39274000	Weak transcription	Primary B cells from peripheral blood	blood
45	chr2:39258400-39276400	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr2:39258400-39282600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr2:39258400-39292800	Weak transcription	HSMMtube	muscle
48	chr2:39258400-39295800	Weak transcription	Colon Smooth Muscle	Colon
49	chr2:39258400-39299200	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr2:39258400-39322400	Weak transcription	Thymus	Thymus

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