Variant report

Variant	rs72618619
Chromosome Location	chr2:46635783-46635784
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:46633942..46636867-chr2:46657432..46660033,3	K562	blood:
2	chr2:46633942..46636424-chr2:46657432..46659768,2	K562	blood:
3	chr2:46635461..46637911-chr2:46643463..46645428,2	MCF-7	breast:
4	chr2:46524294..46526928-chr2:46635317..46637787,2	MCF-7	breast:
5	chr2:46633572..46635870-chr2:46669679..46671465,2	MCF-7	breast:
6	chr2:46634878..46637734-chr2:46638527..46641360,4	MCF-7	breast:
7	chr2:46634475..46637528-chr2:46648902..46652538,3	K562	blood:
8	chr2:46631504..46633445-chr2:46635398..46638031,3	K562	blood:
9	chr2:46634737..46637528-chr2:46648902..46651516,2	K562	blood:
10	chr2:46629153..46633507-chr2:46634086..46636395,4	MCF-7	breast:
11	chr2:46635224..46636896-chr2:47097886..47099618,2	K562	blood:
12	chr2:46404430..46406212-chr2:46634124..46636949,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000116016	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12615460	0.93[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12623342	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1868090	0.82[EUR][1000 genomes]
rs35919434	0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012446	chr2:45921682-46737036	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	esv2757795	chr2:46532812-46874151	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	esv2759046	chr2:46532812-46874151	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	esv34650	chr2:46605659-46818992	Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	esv2756919	chr2:46614235-46756431	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46613200-46644200	Weak transcription	Aorta	Aorta
2	chr2:46629000-46636000	Weak transcription	Right Ventricle	heart
3	chr2:46630600-46638600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:46631200-46639600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:46632600-46636200	Weak transcription	K562	blood
6	chr2:46633400-46636400	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr2:46633600-46639000	Enhancers	Esophagus	oesophagus
8	chr2:46633800-46637800	Enhancers	Pancreas	Pancrea
9	chr2:46633800-46638800	Enhancers	Stomach Mucosa	stomach
10	chr2:46633800-46642000	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr2:46634400-46636200	Enhancers	Lung	lung
12	chr2:46634400-46637200	Enhancers	Colonic Mucosa	Colon
13	chr2:46634600-46635800	Weak transcription	Adipose Nuclei	Adipose
14	chr2:46634600-46639400	Enhancers	HMEC	breast
15	chr2:46634800-46637000	Enhancers	Placenta	Placenta
16	chr2:46634800-46637800	Weak transcription	Gastric	stomach
17	chr2:46634800-46641800	Weak transcription	Spleen	Spleen
18	chr2:46635200-46635800	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr2:46635200-46635800	Enhancers	A549	lung
20	chr2:46635200-46637000	Enhancers	Duodenum Mucosa	Duodenum
21	chr2:46635200-46637400	Enhancers	Stomach Smooth Muscle	stomach
22	chr2:46635400-46635800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr2:46635400-46637200	Enhancers	Fetal Intestine Large	intestine
24	chr2:46635400-46637200	Enhancers	Fetal Intestine Small	intestine
25	chr2:46635400-46637200	Enhancers	Sigmoid Colon	Sigmoid Colon
26	chr2:46635400-46637200	Flanking Active TSS	Hela-S3	cervix
27	chr2:46635400-46639400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr2:46635600-46636000	Enhancers	Rectal Mucosa Donor 29	rectum
29	chr2:46635600-46636800	Enhancers	NHLF	lung
30	chr2:46635600-46637200	Flanking Active TSS	HepG2	liver
31	chr2:46635600-46637600	Enhancers	Liver	Liver

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