Variant report

Variant	rs17750683
Chromosome Location	chr2:187620297-187620298
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:187614067..187616177-chr2:187619330..187620862,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11678190	0.83[CEU][hapmap];0.81[EUR][1000 genomes]
rs11685758	0.83[CEU][hapmap]
rs12151442	0.83[CEU][hapmap]
rs12615659	0.84[CEU][hapmap]
rs13001028	0.83[CEU][hapmap]
rs13006483	0.83[CEU][hapmap];0.82[JPT][hapmap]
rs13026081	0.95[CEU][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13028817	0.84[CEU][hapmap]
rs13030356	0.82[EUR][1000 genomes]
rs13033579	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1349095	1.00[YRI][hapmap]
rs1448424	0.84[CEU][hapmap]
rs17334422	0.85[JPT][hapmap]
rs17406339	0.85[JPT][hapmap]
rs34483988	0.80[EUR][1000 genomes]
rs35986780	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3816386	0.83[CEU][hapmap]
rs6717512	0.82[JPT][hapmap]
rs7593018	1.00[CHB][hapmap];0.85[JPT][hapmap];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9333289	0.83[CEU][hapmap];0.82[JPT][hapmap]
rs9333290	0.83[CEU][hapmap]
rs998972	0.82[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428069	chr2:187575692-187766209	ZNF genes & repeats Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187596600-187626200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr2:187598600-187621200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:187599600-187631000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr2:187603200-187626400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr2:187603200-187626600	Weak transcription	Fetal Stomach	stomach
6	chr2:187603400-187626400	Weak transcription	Fetal Muscle Leg	muscle
7	chr2:187603600-187626600	Weak transcription	Left Ventricle	heart
8	chr2:187603800-187621200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:187605000-187626200	Weak transcription	NHDF-Ad	bronchial
10	chr2:187605000-187626400	Weak transcription	Fetal Muscle Trunk	muscle
11	chr2:187607400-187626200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:187608800-187621200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr2:187609800-187621400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:187610000-187621200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:187610800-187621200	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr2:187611000-187621400	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr2:187611000-187626400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr2:187611000-187628800	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr2:187611000-187628800	Weak transcription	HSMM	muscle
20	chr2:187611800-187623800	Weak transcription	Psoas Muscle	Psoas
21	chr2:187612000-187636200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr2:187612400-187628800	Weak transcription	Fetal Kidney	kidney
23	chr2:187613000-187621600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr2:187613000-187626200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr2:187613200-187626400	Weak transcription	NHLF	lung
26	chr2:187613200-187630000	Weak transcription	Spleen	Spleen
27	chr2:187613400-187621600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr2:187613400-187626600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr2:187613400-187626600	Weak transcription	Lung	lung
30	chr2:187613400-187626600	Weak transcription	Pancreas	Pancrea
31	chr2:187613600-187626600	Weak transcription	Aorta	Aorta
32	chr2:187613800-187626200	Weak transcription	HUVEC	blood vessel
33	chr2:187613800-187626400	Weak transcription	Brain Substantia Nigra	brain
34	chr2:187613800-187626600	Weak transcription	Fetal Lung	lung
35	chr2:187613800-187634000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr2:187614000-187621400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr2:187614000-187626200	Weak transcription	Adipose Nuclei	Adipose
38	chr2:187614000-187626400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr2:187615600-187621400	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr2:187616800-187621600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr2:187616800-187626400	Weak transcription	Primary hematopoietic stem cells	blood
42	chr2:187617200-187626200	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr2:187617200-187626400	Weak transcription	Brain Angular Gyrus	brain
44	chr2:187617200-187626600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr2:187617400-187621200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr2:187617400-187621400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr2:187617400-187622000	Weak transcription	Brain Germinal Matrix	brain
48	chr2:187617400-187626400	Weak transcription	Fetal Brain Male	brain
49	chr2:187617600-187627800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr2:187618400-187629200	Weak transcription	Rectal Smooth Muscle	rectum

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