Variant report

Variant	rs6748352
Chromosome Location	chr2:148888422-148888423
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs17218875	1.00[CEU][hapmap]
rs2307397	1.00[CEU][hapmap]
rs55961509	0.94[ASN][1000 genomes]
rs57204383	0.94[EUR][1000 genomes]
rs59463463	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60114880	0.94[EUR][1000 genomes]
rs6719543	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs73007127	0.83[EUR][1000 genomes]
rs73007151	0.94[EUR][1000 genomes]
rs73007156	0.94[EUR][1000 genomes]
rs73007176	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73007179	0.94[EUR][1000 genomes]
rs73007190	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73009203	0.94[EUR][1000 genomes]
rs73009254	0.88[EUR][1000 genomes]
rs73009259	0.88[EUR][1000 genomes]
rs73009261	0.88[EUR][1000 genomes]
rs73009270	0.88[EUR][1000 genomes]
rs73964452	1.00[ASN][1000 genomes]
rs7590052	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916286	chr2:148438001-148977722	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv529388	chr2:148471340-148934846	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv1002358	chr2:148703807-148942372	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv1007683	chr2:148717347-148942372	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv535971	chr2:148717347-148942372	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv1000852	chr2:148730825-148934986	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv535972	chr2:148730825-148934986	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv916766	chr2:148743880-148955720	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv1001339	chr2:148755022-149020866	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
10	nsv535977	chr2:148755022-149020866	Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
11	nsv869146	chr2:148787051-149060763	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv875276	chr2:148844369-148996824	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv1004431	chr2:148859099-149054114	Weak transcription Active TSS ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv997674	chr2:148862630-148995570	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	nsv1007998	chr2:148866051-148995570	Strong transcription ZNF genes & repeats Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
16	nsv999952	chr2:148884787-148938697	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:148855800-148901000	Weak transcription	Fetal Intestine Small	intestine
2	chr2:148861200-148889000	Weak transcription	Aorta	Aorta
3	chr2:148876600-148895000	Weak transcription	Primary T cells from cord blood	blood
4	chr2:148877400-148901200	Weak transcription	Primary B cells from cord blood	blood
5	chr2:148880400-148889600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr2:148880800-148900400	Weak transcription	HSMM	muscle
7	chr2:148881800-148895000	Weak transcription	Left Ventricle	heart
8	chr2:148882200-148889000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr2:148882200-148893400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:148882200-148905400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:148882400-148890000	Weak transcription	NHEK	skin
12	chr2:148887600-148889000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:148887800-148888600	Enhancers	Osteobl	bone
14	chr2:148887800-148888800	Enhancers	HepG2	liver
15	chr2:148888000-148888600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr2:148888000-148888800	Flanking Active TSS	A549	lung
17	chr2:148888000-148890000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:148888200-148888600	Enhancers	Fetal Intestine Large	intestine
19	chr2:148888200-148888600	Weak transcription	Fetal Lung	lung
20	chr2:148888200-148888600	Enhancers	HSMMtube	muscle
21	chr2:148888200-148888600	Enhancers	NH-A	brain
22	chr2:148888200-148888800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr2:148888200-148888800	Enhancers	Colon Smooth Muscle	Colon
24	chr2:148888200-148888800	Enhancers	NHLF	lung
25	chr2:148888200-148889600	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr2:148888400-148888600	Enhancers	Duodenum Smooth Muscle	Duodenum
27	chr2:148888400-148888800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr2:148888400-148889400	Weak transcription	Rectal Smooth Muscle	rectum
29	chr2:148888400-148889600	Weak transcription	NHDF-Ad	bronchial

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