Variant report

Variant	rs6734109
Chromosome Location	chr2:37152967-37152968
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs1015599	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1019311	0.83[YRI][hapmap];1.00[EUR][1000 genomes]
rs11124550	1.00[EUR][1000 genomes]
rs11892892	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11896317	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2110943	1.00[EUR][1000 genomes]
rs2160378	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2247610	0.89[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2254704	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs2540921	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2540927	0.81[YRI][hapmap];1.00[EUR][1000 genomes]
rs2540928	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2540932	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2540934	0.83[YRI][hapmap]
rs2540935	0.85[YRI][hapmap];1.00[EUR][1000 genomes]
rs2540937	0.83[AMR][1000 genomes]
rs2540938	1.00[EUR][1000 genomes]
rs2541003	1.00[EUR][1000 genomes]
rs2541005	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2691103	1.00[EUR][1000 genomes]
rs2691108	1.00[EUR][1000 genomes]
rs2691113	0.83[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2691117	0.81[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2691121	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2706810	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2706812	1.00[EUR][1000 genomes]
rs2706816	1.00[EUR][1000 genomes]
rs2717498	0.87[YRI][hapmap];1.00[EUR][1000 genomes]
rs2717499	0.94[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2717502	1.00[EUR][1000 genomes]
rs2717504	0.80[YRI][hapmap];1.00[EUR][1000 genomes]
rs2717506	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2717513	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2717514	0.80[YRI][hapmap];1.00[EUR][1000 genomes]
rs2717515	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2717517	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2717521	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2949393	0.81[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57644053	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59709996	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61085492	1.00[EUR][1000 genomes]
rs61382980	0.83[AMR][1000 genomes]
rs61561618	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6708710	1.00[EUR][1000 genomes]
rs6738016	0.99[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6750356	1.00[EUR][1000 genomes]
rs6758058	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs723674	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73924930	1.00[EUR][1000 genomes]
rs73924969	1.00[EUR][1000 genomes]
rs73924971	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7593630	1.00[EUR][1000 genomes]
rs7593646	0.89[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs964853	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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
6	nsv962523	chr2:37143222-37171714	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv828931	chr2:37146993-37156554	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv963787	chr2:37150704-37158383	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37094400-37154200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr2:37096800-37154400	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr2:37105000-37164600	Weak transcription	Lung	lung
4	chr2:37105200-37154400	Weak transcription	Esophagus	oesophagus
5	chr2:37105200-37157800	Weak transcription	Pancreas	Pancrea
6	chr2:37105200-37164600	Weak transcription	Spleen	Spleen
7	chr2:37117600-37153600	Weak transcription	Hela-S3	cervix
8	chr2:37120000-37153800	Weak transcription	Stomach Smooth Muscle	stomach
9	chr2:37120600-37168000	Weak transcription	Thymus	Thymus
10	chr2:37120800-37166400	Weak transcription	Placenta	Placenta
11	chr2:37121200-37153600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr2:37126200-37153600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr2:37127800-37157200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr2:37131600-37153200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr2:37131800-37153600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr2:37132200-37153600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr2:37132400-37192400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr2:37134600-37192400	Weak transcription	Fetal Stomach	stomach
19	chr2:37136400-37178800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr2:37138600-37160600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr2:37139600-37154400	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr2:37140000-37153600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr2:37140400-37153600	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr2:37140400-37153600	Weak transcription	HSMM	muscle
25	chr2:37140600-37153200	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr2:37140600-37153400	Weak transcription	Osteobl	bone
27	chr2:37140600-37153600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr2:37140600-37153600	Weak transcription	HMEC	breast
29	chr2:37140600-37153600	Weak transcription	NHDF-Ad	bronchial
30	chr2:37140600-37157800	Weak transcription	Left Ventricle	heart
31	chr2:37140800-37153400	Weak transcription	NHEK	skin
32	chr2:37140800-37158000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr2:37140800-37158200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr2:37141200-37153600	Weak transcription	NHLF	lung
35	chr2:37141400-37158200	Weak transcription	Fetal Muscle Leg	muscle
36	chr2:37142000-37153600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr2:37142000-37178400	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr2:37142000-37178800	Weak transcription	Primary B cells from cord blood	blood
39	chr2:37143000-37153400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr2:37143200-37153600	Weak transcription	Primary T cells from cord blood	blood
41	chr2:37143200-37154200	Weak transcription	Primary B cells from peripheral blood	blood
42	chr2:37143200-37154200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr2:37143400-37153600	Weak transcription	Duodenum Mucosa	Duodenum
44	chr2:37143400-37191000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr2:37143600-37153200	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr2:37143600-37153400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr2:37143600-37154000	Weak transcription	Fetal Intestine Large	intestine
48	chr2:37143600-37154400	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr2:37143600-37156400	Weak transcription	Dnd41	blood
50	chr2:37143800-37153400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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