Variant report

Variant	rs2576237
Chromosome Location	chr1:216985231-216985232
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12139635	0.99[ASN][1000 genomes]
rs1339340	1.00[ASN][1000 genomes]
rs1339358	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1370143	0.93[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs1542001	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17044026	0.93[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2789719	1.00[ASN][1000 genomes]
rs2789726	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs2813664	0.85[JPT][hapmap]
rs2813665	0.84[JPT][hapmap]
rs2813672	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2813673	0.81[CHB][hapmap]
rs2813675	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs3738490	0.84[CHB][hapmap];0.95[JPT][hapmap];1.00[ASN][1000 genomes]
rs6686329	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs766158	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs766159	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][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	esv2762163	chr1:216982140-217015625	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:216979000-216986200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:216979800-216988800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr1:216979800-216989000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr1:216980200-216986400	Weak transcription	Fetal Muscle Leg	muscle
5	chr1:216980200-216987400	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr1:216980400-216988000	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr1:216981200-216986000	Weak transcription	HSMMtube	muscle
8	chr1:216983200-216988600	Weak transcription	Right Atrium	heart
9	chr1:216983200-216989200	Weak transcription	Gastric	stomach
10	chr1:216983600-216986200	Weak transcription	Psoas Muscle	Psoas
11	chr1:216983600-216986400	Weak transcription	Fetal Lung	lung
12	chr1:216983600-216988600	Weak transcription	Left Ventricle	heart
13	chr1:216983600-216988800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:216985000-216985400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:216985000-216985400	Enhancers	Duodenum Mucosa	Duodenum
16	chr1:216985000-216985400	Enhancers	Fetal Intestine Small	intestine
17	chr1:216985000-216985600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr1:216985000-216986400	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr1:216985000-216987600	Weak transcription	Fetal Kidney	kidney
20	chr1:216985000-216988600	Enhancers	Fetal Heart	heart
21	chr1:216985200-216985400	Enhancers	Brain Substantia Nigra	brain
22	chr1:216985200-216985600	Weak transcription	Fetal Intestine Large	intestine
23	chr1:216985200-216988400	Weak transcription	Cortex derived primary cultured neurospheres	brain

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