Variant report

Variant	rs35108069
Chromosome Location	chr2:40426655-40426656
allele	C/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:30)

rs_ID	r²[population]
rs12997800	0.82[EUR][1000 genomes]
rs13010453	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13012123	0.82[EUR][1000 genomes]
rs13015064	1.00[AMR][1000 genomes]
rs13015421	0.82[EUR][1000 genomes]
rs13015844	0.82[EUR][1000 genomes]
rs13017294	0.82[EUR][1000 genomes]
rs13021278	0.82[EUR][1000 genomes]
rs13029172	0.82[EUR][1000 genomes]
rs13029927	0.82[EUR][1000 genomes]
rs13035066	0.82[EUR][1000 genomes]
rs34078731	0.82[EUR][1000 genomes]
rs34210996	0.82[EUR][1000 genomes]
rs34238309	0.82[EUR][1000 genomes]
rs34303202	0.82[EUR][1000 genomes]
rs34658168	0.82[EUR][1000 genomes]
rs34661498	0.82[EUR][1000 genomes]
rs34696712	1.00[AMR][1000 genomes]
rs35372653	0.82[EUR][1000 genomes]
rs35432865	0.82[EUR][1000 genomes]
rs35746759	0.82[EUR][1000 genomes]
rs35774927	0.82[EUR][1000 genomes]
rs71439276	0.82[EUR][1000 genomes]
rs71439277	0.82[EUR][1000 genomes]
rs71439278	0.82[EUR][1000 genomes]
rs71439279	0.82[EUR][1000 genomes]
rs71439283	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs71439284	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs71439285	1.00[AMR][1000 genomes]
rs71439286	1.00[AMR][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	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
15	nsv526074	chr2:40423454-40451724	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
16	nsv873911	chr2:40423454-41161464	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 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	chr2:40417200-40430400	Weak transcription	Aorta	Aorta
4	chr2:40418200-40447200	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr2:40418600-40445800	Weak transcription	Dnd41	blood
6	chr2:40419200-40436600	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr2:40420600-40430000	Weak transcription	NHLF	lung
8	chr2:40420800-40428800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr2:40421200-40429200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr2:40422000-40435200	Weak transcription	Fetal Kidney	kidney
11	chr2:40422200-40430000	Weak transcription	Left Ventricle	heart
12	chr2:40422600-40436400	Weak transcription	Right Ventricle	heart
13	chr2:40423600-40426800	Enhancers	HSMM	muscle
14	chr2:40424000-40427000	Genic enhancers	Fetal Heart	heart
15	chr2:40424600-40430000	Weak transcription	Fetal Brain Male	brain
16	chr2:40424600-40430400	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr2:40424800-40426800	Weak transcription	Colon Smooth Muscle	Colon
18	chr2:40424800-40429800	Weak transcription	Fetal Brain Female	brain
19	chr2:40425200-40430000	Weak transcription	Fetal Muscle Leg	muscle
20	chr2:40425400-40433400	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr2:40425800-40428000	Enhancers	Muscle Satellite Cultured Cells	--
22	chr2:40425800-40428000	Enhancers	Rectal Smooth Muscle	rectum
23	chr2:40426000-40426800	Weak transcription	HSMMtube	muscle
24	chr2:40426400-40426800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr2:40426400-40427000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr2:40426400-40427600	Weak transcription	Ovary	ovary
27	chr2:40426400-40427800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr2:40426400-40430800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr2:40426600-40429000	Weak transcription	Fetal Stomach	stomach
30	chr2:40426600-40430000	Weak transcription	Duodenum Smooth Muscle	Duodenum

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