Variant report

Variant	rs10043213
Chromosome Location	chr5:37710445-37710446
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10038414	1.00[EUR][1000 genomes]
rs10039768	1.00[EUR][1000 genomes]
rs10042970	1.00[EUR][1000 genomes]
rs10050392	1.00[EUR][1000 genomes]
rs10050932	1.00[EUR][1000 genomes]
rs10051811	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10053094	1.00[EUR][1000 genomes]
rs10055123	1.00[EUR][1000 genomes]
rs10055301	1.00[EUR][1000 genomes]
rs10055334	1.00[EUR][1000 genomes]
rs10055747	1.00[EUR][1000 genomes]
rs10058062	1.00[EUR][1000 genomes]
rs10059214	1.00[EUR][1000 genomes]
rs10060693	1.00[EUR][1000 genomes]
rs10063001	1.00[EUR][1000 genomes]
rs10067239	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10067869	1.00[EUR][1000 genomes]
rs10071967	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10072326	1.00[GIH][hapmap];1.00[TSI][hapmap]
rs10074536	1.00[EUR][1000 genomes]
rs10075851	1.00[EUR][1000 genomes]
rs10076872	1.00[EUR][1000 genomes]
rs10078503	1.00[EUR][1000 genomes]
rs10473065	0.82[YRI][hapmap];0.81[AMR][1000 genomes]
rs1104717	1.00[EUR][1000 genomes]
rs1104718	1.00[EUR][1000 genomes]
rs12332422	1.00[EUR][1000 genomes]
rs12332493	1.00[EUR][1000 genomes]
rs12656455	1.00[EUR][1000 genomes]
rs1400855	1.00[EUR][1000 genomes]
rs16903667	1.00[EUR][1000 genomes]
rs16903675	1.00[EUR][1000 genomes]
rs16903689	1.00[EUR][1000 genomes]
rs16903703	0.87[ASW][hapmap];1.00[GIH][hapmap];0.93[LWK][hapmap];0.81[MKK][hapmap];0.89[YRI][hapmap];0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16903704	0.87[ASW][hapmap];1.00[GIH][hapmap];0.93[LWK][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16903706	0.90[YRI][hapmap];0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1829294	1.00[EUR][1000 genomes]
rs1973713	1.00[EUR][1000 genomes]
rs28876205	1.00[EUR][1000 genomes]
rs475517	1.00[EUR][1000 genomes]
rs481834	1.00[EUR][1000 genomes]
rs488315	1.00[EUR][1000 genomes]
rs489123	1.00[EUR][1000 genomes]
rs563999	1.00[EUR][1000 genomes]
rs587641	1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs59176360	1.00[EUR][1000 genomes]
rs596461	1.00[EUR][1000 genomes]
rs61748201	1.00[EUR][1000 genomes]
rs626649	1.00[EUR][1000 genomes]
rs6451332	1.00[EUR][1000 genomes]
rs671077	1.00[EUR][1000 genomes]
rs6859972	1.00[EUR][1000 genomes]
rs6863124	1.00[EUR][1000 genomes]
rs6863547	1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs6888597	1.00[EUR][1000 genomes]
rs6898225	1.00[EUR][1000 genomes]
rs6898271	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs72743166	0.86[AFR][1000 genomes]
rs7708301	1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7708708	1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7710547	1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7714066	1.00[EUR][1000 genomes]
rs7719190	1.00[EUR][1000 genomes]
rs7723389	1.00[EUR][1000 genomes]
rs7725297	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7727291	1.00[EUR][1000 genomes]
rs7727603	1.00[EUR][1000 genomes]
rs7729195	1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7732315	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7734593	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7736605	1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7736862	1.00[EUR][1000 genomes]
rs7737210	1.00[EUR][1000 genomes]
rs7737986	1.00[EUR][1000 genomes]
rs9292658	1.00[EUR][1000 genomes]
rs9292659	1.00[EUR][1000 genomes]
rs9292660	1.00[EUR][1000 genomes]
rs9292661	1.00[EUR][1000 genomes]
rs9292663	1.00[EUR][1000 genomes]
rs951579	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026554	chr5:37112133-37734859	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv537726	chr5:37112133-37734859	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
3	nsv949716	chr5:37179341-37967352	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
4	nsv1023871	chr5:37330018-37804744	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv537729	chr5:37330018-37804744	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	nsv432744	chr5:37374124-37743077	ZNF genes & repeats Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv597846	chr5:37430215-37813591	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1030250	chr5:37478163-37734859	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv881383	chr5:37485316-37773877	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37685200-37743200	Weak transcription	Gastric	stomach
2	chr5:37685400-37717600	Weak transcription	Pancreas	Pancrea
3	chr5:37685600-37711200	Weak transcription	Fetal Stomach	stomach
4	chr5:37685600-37727000	Weak transcription	Lung	lung
5	chr5:37687200-37720600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr5:37688400-37721400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr5:37688400-37721400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr5:37688400-37723600	Weak transcription	Placenta	Placenta
9	chr5:37689600-37726000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr5:37692200-37721200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr5:37695200-37716600	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr5:37695400-37715600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr5:37695400-37722600	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr5:37695600-37721200	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr5:37696000-37717000	Weak transcription	Duodenum Mucosa	Duodenum
16	chr5:37696400-37717200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr5:37696800-37711200	Weak transcription	HSMMtube	muscle
18	chr5:37696800-37717000	Weak transcription	HSMM	muscle
19	chr5:37696800-37717400	Weak transcription	Small Intestine	intestine
20	chr5:37696800-37722800	Weak transcription	Psoas Muscle	Psoas
21	chr5:37697000-37717000	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr5:37697000-37721400	Weak transcription	Fetal Thymus	thymus
23	chr5:37697000-37743800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr5:37697200-37717000	Weak transcription	NH-A	brain
25	chr5:37697400-37711000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr5:37697400-37717000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr5:37697400-37717200	Weak transcription	Hela-S3	cervix
28	chr5:37697400-37722200	Weak transcription	HMEC	breast
29	chr5:37698800-37716400	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr5:37698800-37721000	Weak transcription	Dnd41	blood
31	chr5:37699000-37717400	Weak transcription	Ovary	ovary
32	chr5:37699200-37717000	Weak transcription	Fetal Intestine Large	intestine
33	chr5:37699200-37717600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr5:37699800-37717000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr5:37699800-37720600	Weak transcription	Adipose Nuclei	Adipose
36	chr5:37700400-37717400	Weak transcription	Fetal Muscle Leg	muscle
37	chr5:37701000-37717000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr5:37701200-37717600	Weak transcription	Fetal Muscle Trunk	muscle
39	chr5:37701400-37721200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr5:37702200-37721200	Weak transcription	GM12878-XiMat	blood
41	chr5:37702800-37723400	Weak transcription	Thymus	Thymus
42	chr5:37703600-37717600	Weak transcription	Primary B cells from peripheral blood	blood
43	chr5:37703600-37717600	Weak transcription	Left Ventricle	heart
44	chr5:37703600-37722800	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr5:37703800-37721600	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr5:37704400-37735400	Weak transcription	Brain Angular Gyrus	brain
47	chr5:37704600-37726800	Weak transcription	Primary hematopoietic stem cells	blood
48	chr5:37705400-37724400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr5:37706200-37717200	Weak transcription	Primary T cells from cord blood	blood
50	chr5:37706200-37721200	Weak transcription	Monocytes-CD14+_RO01746	blood

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