Variant report

Variant	rs2689714
Chromosome Location	chr2:36650664-36650665
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10186135	0.89[ASN][1000 genomes]
rs12477836	0.89[ASN][1000 genomes]
rs2689711	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3770932	0.89[ASN][1000 genomes]
rs3770936	0.87[ASN][1000 genomes]
rs848499	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs848506	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs848508	1.00[ASN][1000 genomes]
rs848509	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs848513	0.89[ASN][1000 genomes]
rs848514	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833803	chr2:36589065-36745779	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv2756915	chr2:36622906-36657305	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	esv2759041	chr2:36622906-36657305	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36636800-36656000	Weak transcription	Esophagus	oesophagus
2	chr2:36640000-36656000	Genic enhancers	A549	lung
3	chr2:36640200-36653400	Genic enhancers	HUVEC	blood vessel
4	chr2:36640200-36680000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr2:36640800-36651200	Weak transcription	HSMMtube	muscle
6	chr2:36641200-36659200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr2:36641600-36651600	Enhancers	Fetal Heart	heart
8	chr2:36644200-36651400	Weak transcription	Colonic Mucosa	Colon
9	chr2:36644200-36651600	Weak transcription	HMEC	breast
10	chr2:36644200-36657200	Weak transcription	Brain Anterior Caudate	brain
11	chr2:36644200-36660000	Weak transcription	Fetal Brain Female	brain
12	chr2:36644400-36651400	Weak transcription	NHEK	skin
13	chr2:36644400-36653000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:36644400-36656800	Weak transcription	Fetal Stomach	stomach
15	chr2:36644400-36657200	Weak transcription	Colon Smooth Muscle	Colon
16	chr2:36644400-36659600	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr2:36644400-36665600	Weak transcription	Gastric	stomach
18	chr2:36644600-36651000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr2:36644600-36653000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr2:36644600-36656600	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr2:36645200-36651600	Weak transcription	Primary hematopoietic stem cells	blood
22	chr2:36645400-36652200	Weak transcription	Hela-S3	cervix
23	chr2:36646200-36654600	Weak transcription	Stomach Smooth Muscle	stomach
24	chr2:36646600-36651000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr2:36646800-36651200	Weak transcription	Right Ventricle	heart
26	chr2:36647200-36654600	Weak transcription	Small Intestine	intestine
27	chr2:36647400-36650800	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr2:36648000-36651400	Weak transcription	HepG2	liver
29	chr2:36648000-36654400	Strong transcription	HSMM	muscle
30	chr2:36648000-36656800	Weak transcription	Right Atrium	heart
31	chr2:36648000-36657000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr2:36648000-36659600	Weak transcription	Brain Angular Gyrus	brain
33	chr2:36648000-36659800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr2:36648000-36660200	Weak transcription	Pancreas	Pancrea
35	chr2:36648200-36651200	Weak transcription	Placenta	Placenta
36	chr2:36648200-36651200	Weak transcription	NHLF	lung
37	chr2:36648200-36651400	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr2:36648200-36651400	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr2:36648200-36651400	Weak transcription	Left Ventricle	heart
40	chr2:36648200-36651400	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr2:36648200-36654400	Weak transcription	Spleen	Spleen
42	chr2:36648200-36654600	Weak transcription	Lung	lung
43	chr2:36648200-36654800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr2:36648200-36656000	Weak transcription	Aorta	Aorta
45	chr2:36648200-36660200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr2:36648200-36660400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr2:36648400-36651600	Weak transcription	Adipose Nuclei	Adipose
48	chr2:36648400-36657200	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr2:36648600-36651200	Weak transcription	Primary B cells from cord blood	blood
50	chr2:36648600-36657200	Weak transcription	Rectal Smooth Muscle	rectum

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