Variant report

Variant	rs785213
Chromosome Location	chr2:191046105-191046106
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs13027890	0.95[CHD][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs13392291	0.99[ASN][1000 genomes]
rs16832401	0.82[CHD][hapmap]
rs58052205	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6720084	1.00[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6755406	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[JPT][hapmap];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs698603	0.88[EUR][1000 genomes]
rs698604	1.00[CEU][hapmap];0.91[CHB][hapmap];0.87[CHD][hapmap];0.91[JPT][hapmap];0.83[TSI][hapmap];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs698607	0.82[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3439178	chr2:190877215-191124499	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	esv3441594	chr2:191044357-191046805	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191044400-191046200	Active TSS	Brain Cingulate Gyrus	brain
2	chr2:191044600-191046200	Active TSS	H9 Cell Line	embryonic stem cell
3	chr2:191044600-191046400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr2:191044600-191046400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
5	chr2:191044600-191046600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr2:191044800-191046200	Active TSS	Aorta	Aorta
7	chr2:191044800-191046200	Active TSS	Psoas Muscle	Psoas
8	chr2:191044800-191046200	Active TSS	HSMM	muscle
9	chr2:191044800-191046400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
10	chr2:191044800-191046400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
11	chr2:191044800-191046400	Flanking Active TSS	Primary B cells from cord blood	blood
12	chr2:191044800-191046400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr2:191044800-191046400	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr2:191044800-191046400	Active TSS	Sigmoid Colon	Sigmoid Colon
15	chr2:191044800-191046600	Active TSS	Right Ventricle	heart
16	chr2:191044800-191047000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr2:191044800-191047000	Active TSS	Left Ventricle	heart
18	chr2:191044800-191048000	Active TSS	Fetal Intestine Large	intestine
19	chr2:191044800-191049000	Active TSS	Right Atrium	heart
20	chr2:191045000-191046200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
21	chr2:191045000-191046200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr2:191045000-191046200	Active TSS	Colon Smooth Muscle	Colon
23	chr2:191045000-191046200	Active TSS	Esophagus	oesophagus
24	chr2:191045000-191046200	Active TSS	Gastric	stomach
25	chr2:191045000-191046200	Active TSS	A549	lung
26	chr2:191045000-191046400	Active TSS	Fetal Stomach	stomach
27	chr2:191045000-191046400	Active TSS	Osteobl	bone
28	chr2:191045000-191046600	Active TSS	Brain Angular Gyrus	brain
29	chr2:191045000-191046600	Active TSS	Brain Hippocampus Middle	brain
30	chr2:191045000-191046600	Active TSS	Brain Inferior Temporal Lobe	brain
31	chr2:191045000-191047000	Active TSS	Skeletal Muscle Male	skeletal muscle
32	chr2:191045000-191047200	Active TSS	Rectal Smooth Muscle	rectum
33	chr2:191045000-191047600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr2:191045000-191048000	Active TSS	Fetal Intestine Small	intestine
35	chr2:191045000-191049000	Active TSS	K562	blood
36	chr2:191045000-191049200	Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr2:191045200-191046200	Active TSS	Primary T cells from cord blood	blood
38	chr2:191045200-191046200	Active TSS	Muscle Satellite Cultured Cells	--
39	chr2:191045200-191046200	Active TSS	NHEK	skin
40	chr2:191045200-191047800	Active TSS	Duodenum Mucosa	Duodenum
41	chr2:191045200-191048000	Active TSS	Rectal Mucosa Donor 29	rectum
42	chr2:191045400-191046200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr2:191045400-191046200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
44	chr2:191045400-191046200	Bivalent Enhancer	Fetal Thymus	thymus
45	chr2:191045400-191046400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
46	chr2:191045400-191046400	Active TSS	Fetal Muscle Trunk	muscle
47	chr2:191045400-191046400	Active TSS	Fetal Muscle Leg	muscle
48	chr2:191045400-191046400	Active TSS	Pancreas	Pancrea
49	chr2:191045400-191046600	Active TSS	Colonic Mucosa	Colon
50	chr2:191045400-191047000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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