Variant report

Variant	rs34658168
Chromosome Location	chr2:40420281-40420282
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:40419927..40421772-chr2:40425195..40428157,2	MCF-7	breast:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs12988544	1.00[AMR][1000 genomes]
rs12997800	1.00[EUR][1000 genomes]
rs13010488	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13012123	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13015421	1.00[EUR][1000 genomes]
rs13015844	1.00[EUR][1000 genomes]
rs13017294	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13019628	1.00[AMR][1000 genomes]
rs13021278	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13029031	0.82[EUR][1000 genomes]
rs13029172	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13029927	1.00[EUR][1000 genomes]
rs13033538	1.00[AMR][1000 genomes]
rs13035066	1.00[EUR][1000 genomes]
rs34078731	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34210996	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34238309	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34303202	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34661498	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34681150	1.00[AMR][1000 genomes]
rs34771893	1.00[AMR][1000 genomes]
rs35108069	0.82[EUR][1000 genomes]
rs35372653	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35432865	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35720948	1.00[AMR][1000 genomes]
rs35746759	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35774927	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61009582	1.00[AMR][1000 genomes]
rs71439276	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71439277	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71439278	1.00[EUR][1000 genomes]
rs71439279	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529606	chr2:40206280-40896881	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv873902	chr2:40231282-40466268	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1004092	chr2:40264608-40451701	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1000572	chr2:40271958-40458911	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv535654	chr2:40271958-40458911	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv581502	chr2:40273903-40459645	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv873904	chr2:40292289-40466268	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv873910	chr2:40391907-40466268	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	esv1851152	chr2:40393223-40512023	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	esv2763455	chr2:40416373-40433420	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv1001866	chr2:40416373-40433420	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv581503	chr2:40417012-40430611	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv581504	chr2:40418386-40430611	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	nsv526425	chr2:40418386-40447587	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40400600-40426800	Weak transcription	Osteobl	bone
2	chr2:40405400-40430000	Weak transcription	Stomach Smooth Muscle	stomach
3	chr2:40405600-40421800	Weak transcription	Right Ventricle	heart
4	chr2:40411000-40424200	Weak transcription	HSMMtube	muscle
5	chr2:40412000-40421800	Weak transcription	Left Ventricle	heart
6	chr2:40416000-40425800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr2:40417200-40430400	Weak transcription	Aorta	Aorta
8	chr2:40417800-40424200	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr2:40417800-40424400	Weak transcription	Colon Smooth Muscle	Colon
10	chr2:40418200-40447200	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr2:40418400-40420400	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr2:40418600-40445800	Weak transcription	Dnd41	blood
13	chr2:40419200-40436600	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr2:40419800-40420400	Enhancers	HSMM	muscle
15	chr2:40420000-40420400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:40420000-40420600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr2:40420000-40420600	Enhancers	Rectal Mucosa Donor 29	rectum
18	chr2:40420000-40420600	Enhancers	NHLF	lung
19	chr2:40420000-40420800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr2:40420000-40420800	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr2:40420000-40420800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr2:40420000-40420800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr2:40420000-40420800	Enhancers	HMEC	breast
24	chr2:40420000-40420800	Enhancers	NHEK	skin
25	chr2:40420000-40421000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr2:40420000-40421000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr2:40420000-40421000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr2:40420000-40421000	Enhancers	Fetal Kidney	kidney
29	chr2:40420000-40421000	Enhancers	Hela-S3	cervix
30	chr2:40420000-40421200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr2:40420000-40422200	Enhancers	Sigmoid Colon	Sigmoid Colon
32	chr2:40420000-40422600	Enhancers	Stomach Mucosa	stomach
33	chr2:40420000-40422800	Enhancers	Fetal Intestine Large	intestine
34	chr2:40420200-40420400	Enhancers	Fetal Heart	heart
35	chr2:40420200-40420600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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