Variant report

Variant	rs56768253
Chromosome Location	chr2:46611471-46611472
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:46604849..46607852-chr2:46611035..46614942,3	K562	blood:
2	chr2:46611170..46613547-chr2:46667403..46669178,2	K562	blood:

Variant related genes	Relation type
ENSG00000116016	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10865214	0.80[ASN][1000 genomes]
rs11689649	0.82[EUR][1000 genomes]
rs11689694	0.82[EUR][1000 genomes]
rs11689989	0.80[ASN][1000 genomes]
rs12991568	0.81[ASN][1000 genomes]
rs13424253	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3088359	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35145595	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs55864213	0.80[ASN][1000 genomes]
rs56058321	0.80[ASN][1000 genomes]
rs7590087	0.82[EUR][1000 genomes]
rs7594278	0.80[EUR][1000 genomes]
rs7605241	0.81[EUR][1000 genomes]
rs9677412	0.81[EUR][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	nsv916169	chr2:46310963-46622603	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46573200-46613000	Strong transcription	Hela-S3	cervix
2	chr2:46574800-46613000	Weak transcription	HSMM	muscle
3	chr2:46589800-46616600	Weak transcription	Thymus	Thymus
4	chr2:46592200-46619800	Weak transcription	K562	blood
5	chr2:46592600-46612600	Strong transcription	NHEK	skin
6	chr2:46592600-46616200	Strong transcription	Placenta Amnion	Placenta Amnion
7	chr2:46593600-46615400	Strong transcription	Sigmoid Colon	Sigmoid Colon
8	chr2:46594000-46612800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:46594400-46615600	Strong transcription	Duodenum Mucosa	Duodenum
10	chr2:46594600-46612800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr2:46594800-46615400	Strong transcription	Liver	Liver
12	chr2:46594800-46615600	Strong transcription	HUVEC	blood vessel
13	chr2:46595000-46616000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr2:46596000-46612800	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr2:46600600-46612600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr2:46600800-46614200	Strong transcription	HepG2	liver
17	chr2:46601800-46616400	Genic enhancers	Placenta	Placenta
18	chr2:46602000-46616000	Strong transcription	Pancreas	Pancrea
19	chr2:46602400-46613400	Strong transcription	Fetal Intestine Small	intestine
20	chr2:46603200-46614200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr2:46604600-46612000	Strong transcription	Aorta	Aorta
22	chr2:46605000-46613000	Strong transcription	A549	lung
23	chr2:46605200-46614200	Weak transcription	Brain Substantia Nigra	brain
24	chr2:46605600-46614800	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr2:46606000-46612200	Strong transcription	Colonic Mucosa	Colon
26	chr2:46606000-46615000	Strong transcription	Right Ventricle	heart
27	chr2:46606000-46615400	Strong transcription	Left Ventricle	heart
28	chr2:46606200-46613000	Weak transcription	Right Atrium	heart
29	chr2:46606200-46613400	Strong transcription	Gastric	stomach
30	chr2:46606600-46613000	Weak transcription	Brain Hippocampus Middle	brain
31	chr2:46606600-46614600	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr2:46606800-46613000	Strong transcription	Skeletal Muscle Male	skeletal muscle
33	chr2:46607000-46612600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr2:46607000-46612600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr2:46607000-46613000	Weak transcription	Brain Anterior Caudate	brain
36	chr2:46607000-46613800	Strong transcription	Rectal Mucosa Donor 31	rectum
37	chr2:46607000-46617000	Weak transcription	Stomach Mucosa	stomach
38	chr2:46607200-46612000	Strong transcription	Stomach Smooth Muscle	stomach
39	chr2:46607200-46613800	Weak transcription	Brain Cingulate Gyrus	brain
40	chr2:46607200-46614400	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr2:46607400-46612000	Strong transcription	Ovary	ovary
42	chr2:46607400-46612600	Weak transcription	HMEC	breast
43	chr2:46607400-46612800	Strong transcription	Adipose Nuclei	Adipose
44	chr2:46608400-46612000	ZNF genes & repeats	Fetal Stomach	stomach
45	chr2:46608600-46612000	Strong transcription	Esophagus	oesophagus
46	chr2:46608600-46613000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr2:46608800-46612200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr2:46608800-46612400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr2:46608800-46612600	Weak transcription	NHDF-Ad	bronchial
50	chr2:46608800-46612600	Strong transcription	NHLF	lung

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