Variant report

Variant	rs830028
Chromosome Location	chr2:169674182-169674183
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	chr2:169673408..169675097-chr2:169675121..169676627,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs17200300	0.80[CEU][hapmap]
rs2555932	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs490278	0.84[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.81[GIH][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs498231	0.89[ASN][1000 genomes]
rs548367	1.00[CHB][hapmap];0.95[CHD][hapmap];0.88[ASN][1000 genomes]
rs830020	0.81[CHB][hapmap]
rs830027	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs830029	0.84[CEU][hapmap];1.00[CHB][hapmap];0.91[YRI][hapmap];0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs830030	0.90[ASN][1000 genomes]
rs830031	0.91[CEU][hapmap];0.94[GIH][hapmap]
rs853666	0.84[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs862638	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]

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	nsv915920	chr2:168851960-169696591	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
2	nsv583599	chr2:169664227-169903096	Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:169660000-169676000	Weak transcription	Fetal Muscle Trunk	muscle
2	chr2:169660000-169688200	Weak transcription	Placenta	Placenta
3	chr2:169661400-169676800	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr2:169662600-169675600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr2:169670000-169698000	Weak transcription	Stomach Mucosa	stomach
6	chr2:169670200-169690200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr2:169670600-169690800	Weak transcription	Fetal Stomach	stomach
8	chr2:169671000-169676000	Weak transcription	Duodenum Mucosa	Duodenum
9	chr2:169672200-169675600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:169672200-169675600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr2:169672400-169675600	Weak transcription	Brain Anterior Caudate	brain
12	chr2:169672600-169675800	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr2:169672600-169676800	Strong transcription	Fetal Intestine Small	intestine
14	chr2:169673000-169678400	Strong transcription	Fetal Intestine Large	intestine
15	chr2:169673200-169675800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:169673200-169675800	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr2:169673200-169675800	Weak transcription	Right Atrium	heart
18	chr2:169673400-169675600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr2:169673400-169675800	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr2:169673400-169676000	Weak transcription	Lung	lung
21	chr2:169673400-169679000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr2:169673400-169683200	Weak transcription	Pancreas	Pancrea
23	chr2:169673400-169687600	Weak transcription	Right Ventricle	heart
24	chr2:169673400-169691600	Weak transcription	Colonic Mucosa	Colon
25	chr2:169673400-169692200	Weak transcription	Gastric	stomach
26	chr2:169673600-169674600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr2:169673600-169675400	Weak transcription	Fetal Heart	heart
28	chr2:169673800-169675000	Enhancers	Fetal Thymus	thymus
29	chr2:169673800-169675600	Weak transcription	Adipose Nuclei	Adipose
30	chr2:169673800-169675600	Weak transcription	NHDF-Ad	bronchial
31	chr2:169673800-169675600	Weak transcription	Osteobl	bone
32	chr2:169673800-169675800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr2:169673800-169675800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr2:169673800-169675800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr2:169673800-169675800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr2:169673800-169676600	Weak transcription	HMEC	breast
37	chr2:169674000-169674800	Weak transcription	K562	blood
38	chr2:169674000-169675600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr2:169674000-169675600	Weak transcription	Fetal Muscle Leg	muscle
40	chr2:169674000-169675800	Weak transcription	Left Ventricle	heart
41	chr2:169674000-169676400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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