Variant report

Variant	rs72797439
Chromosome Location	chr2:46636786-46636787
allele	C/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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:46633942..46636867-chr2:46657432..46660033,3	K562	blood:
2	chr2:46548590..46550903-chr2:46636031..46638044,2	MCF-7	breast:
3	chr2:46602852..46605080-chr2:46635870..46638322,2	MCF-7	breast:
4	chr2:46599672..46601854-chr2:46635973..46638690,2	K562	blood:
5	chr2:46635461..46637911-chr2:46643463..46645428,2	MCF-7	breast:
6	chr2:46524294..46526928-chr2:46635317..46637787,2	MCF-7	breast:
7	chr2:46636493..46638557-chr2:46644102..46646935,2	MCF-7	breast:
8	chr2:46636115..46638908-chr2:46687157..46689113,2	MCF-7	breast:
9	chr2:46634878..46637734-chr2:46638527..46641360,4	MCF-7	breast:
10	chr2:46634475..46637528-chr2:46648902..46652538,3	K562	blood:
11	chr2:46631504..46633445-chr2:46635398..46638031,3	K562	blood:
12	chr2:46629599..46631246-chr2:46635810..46637676,2	MCF-7	breast:
13	chr2:46634737..46637528-chr2:46648902..46651516,2	K562	blood:
14	chr2:46635224..46636896-chr2:47097886..47099618,2	K562	blood:
15	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]
rs56413349	1.00[ASN][1000 genomes]
rs59175489	1.00[ASN][1000 genomes]
rs72797444	1.00[ASN][1000 genomes]
rs72797445	1.00[ASN][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:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46613200-46644200	Weak transcription	Aorta	Aorta
2	chr2:46630600-46638600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:46631200-46639600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:46633600-46639000	Enhancers	Esophagus	oesophagus
5	chr2:46633800-46637800	Enhancers	Pancreas	Pancrea
6	chr2:46633800-46638800	Enhancers	Stomach Mucosa	stomach
7	chr2:46633800-46642000	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr2:46634400-46637200	Enhancers	Colonic Mucosa	Colon
9	chr2:46634600-46639400	Enhancers	HMEC	breast
10	chr2:46634800-46637000	Enhancers	Placenta	Placenta
11	chr2:46634800-46637800	Weak transcription	Gastric	stomach
12	chr2:46634800-46641800	Weak transcription	Spleen	Spleen
13	chr2:46635200-46637000	Enhancers	Duodenum Mucosa	Duodenum
14	chr2:46635200-46637400	Enhancers	Stomach Smooth Muscle	stomach
15	chr2:46635400-46637200	Enhancers	Fetal Intestine Large	intestine
16	chr2:46635400-46637200	Enhancers	Fetal Intestine Small	intestine
17	chr2:46635400-46637200	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr2:46635400-46637200	Flanking Active TSS	Hela-S3	cervix
19	chr2:46635400-46639400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr2:46635600-46636800	Enhancers	NHLF	lung
21	chr2:46635600-46637200	Flanking Active TSS	HepG2	liver
22	chr2:46635600-46637600	Enhancers	Liver	Liver
23	chr2:46635800-46636800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr2:46635800-46636800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr2:46635800-46636800	Flanking Active TSS	A549	lung
26	chr2:46635800-46636800	Enhancers	Osteobl	bone
27	chr2:46635800-46637000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr2:46635800-46637000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr2:46635800-46637200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr2:46635800-46637200	Enhancers	Right Atrium	heart
31	chr2:46635800-46637600	Enhancers	Adipose Nuclei	Adipose
32	chr2:46635800-46637800	Enhancers	NHEK	skin
33	chr2:46636000-46636800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr2:46636000-46637000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr2:46636000-46637800	Enhancers	Right Ventricle	heart
36	chr2:46636000-46639400	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr2:46636200-46636800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr2:46636200-46636800	Enhancers	Colon Smooth Muscle	Colon
39	chr2:46636200-46636800	Enhancers	K562	blood
40	chr2:46636200-46637000	Enhancers	Fetal Heart	heart
41	chr2:46636200-46637000	Weak transcription	Lung	lung
42	chr2:46636200-46637000	Enhancers	Rectal Smooth Muscle	rectum
43	chr2:46636200-46637200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr2:46636200-46637200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr2:46636200-46637600	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr2:46636200-46638200	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr2:46636400-46636800	Weak transcription	Left Ventricle	heart
48	chr2:46636400-46637000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr2:46636400-46637200	Enhancers	Rectal Mucosa Donor 29	rectum
50	chr2:46636400-46637200	Enhancers	Rectal Mucosa Donor 31	rectum

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