Variant report

Variant	rs57289800
Chromosome Location	chr2:36641583-36641584
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs17019128	1.00[AMR][1000 genomes]
rs55713741	1.00[AMR][1000 genomes]
rs56322607	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60570643	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61682514	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73922899	1.00[AMR][1000 genomes]
rs73922900	1.00[AMR][1000 genomes]
rs73922901	1.00[AMR][1000 genomes]
rs73924803	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7586795	0.94[AFR][1000 genomes];1.00[AMR][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:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36618600-36643000	Genic enhancers	Osteobl	bone
2	chr2:36624800-36643600	Weak transcription	Colonic Mucosa	Colon
3	chr2:36625600-36643800	Weak transcription	Fetal Intestine Small	intestine
4	chr2:36625800-36642200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:36626000-36643800	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr2:36631600-36644600	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr2:36632200-36648000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr2:36635600-36641800	Weak transcription	Stomach Smooth Muscle	stomach
9	chr2:36635800-36641600	Weak transcription	Right Atrium	heart
10	chr2:36635800-36641800	Weak transcription	Placenta	Placenta
11	chr2:36635800-36643000	Weak transcription	Fetal Muscle Leg	muscle
12	chr2:36635800-36643800	Weak transcription	Fetal Intestine Large	intestine
13	chr2:36635800-36644000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr2:36635800-36647600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr2:36636000-36642600	Weak transcription	HMEC	breast
16	chr2:36636000-36647600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:36636000-36647600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr2:36636800-36643600	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr2:36636800-36647600	Weak transcription	Lung	lung
20	chr2:36636800-36656000	Weak transcription	Esophagus	oesophagus
21	chr2:36637400-36641800	Weak transcription	Right Ventricle	heart
22	chr2:36637400-36642800	Enhancers	NHLF	lung
23	chr2:36638000-36642400	Enhancers	Brain Hippocampus Middle	brain
24	chr2:36638000-36644400	Strong transcription	NHEK	skin
25	chr2:36638000-36647800	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr2:36638200-36647600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr2:36638400-36646400	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr2:36639000-36644600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr2:36639200-36642200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr2:36639200-36643800	Weak transcription	Duodenum Mucosa	Duodenum
31	chr2:36639400-36642200	Weak transcription	Rectal Smooth Muscle	rectum
32	chr2:36639400-36643000	Genic enhancers	Muscle Satellite Cultured Cells	--
33	chr2:36639400-36647600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr2:36639600-36643800	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr2:36639600-36644000	Weak transcription	Gastric	stomach
36	chr2:36639600-36644000	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr2:36639600-36646600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr2:36639600-36647600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr2:36639600-36647800	Weak transcription	Spleen	Spleen
40	chr2:36639800-36643800	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr2:36640000-36641800	Enhancers	HepG2	liver
42	chr2:36640000-36656000	Genic enhancers	A549	lung
43	chr2:36640200-36644600	Enhancers	Fetal Lung	lung
44	chr2:36640200-36645400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr2:36640200-36653400	Genic enhancers	HUVEC	blood vessel
46	chr2:36640200-36680000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr2:36640400-36645800	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr2:36640400-36646800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr2:36640400-36647000	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr2:36640400-36647200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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