Variant report

Variant	rs11117685
Chromosome Location	chr1:216986204-216986205
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11117684	1.00[AMR][1000 genomes]
rs11117689	1.00[AMR][1000 genomes]
rs12059190	1.00[AMR][1000 genomes]
rs12060574	1.00[AMR][1000 genomes]
rs12065312	1.00[YRI][hapmap]
rs12066856	1.00[YRI][hapmap]
rs12075743	1.00[YRI][hapmap]
rs12097929	1.00[AMR][1000 genomes]
rs28750303	1.00[AMR][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:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:216979800-216988800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr1:216979800-216989000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:216980200-216986400	Weak transcription	Fetal Muscle Leg	muscle
4	chr1:216980200-216987400	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr1:216980400-216988000	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr1:216983200-216988600	Weak transcription	Right Atrium	heart
7	chr1:216983200-216989200	Weak transcription	Gastric	stomach
8	chr1:216983600-216986400	Weak transcription	Fetal Lung	lung
9	chr1:216983600-216988600	Weak transcription	Left Ventricle	heart
10	chr1:216983600-216988800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:216985000-216986400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr1:216985000-216987600	Weak transcription	Fetal Kidney	kidney
13	chr1:216985000-216988600	Enhancers	Fetal Heart	heart
14	chr1:216985200-216988400	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr1:216985400-216988200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:216985400-216988400	Weak transcription	Fetal Intestine Small	intestine
17	chr1:216985400-216989000	Weak transcription	Duodenum Mucosa	Duodenum
18	chr1:216985600-216988400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr1:216985800-216989000	Weak transcription	Fetal Intestine Large	intestine
20	chr1:216986000-216986400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr1:216986000-216986400	Enhancers	Muscle Satellite Cultured Cells	--
22	chr1:216986000-216987800	Enhancers	HSMMtube	muscle
23	chr1:216986200-216986400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr1:216986200-216986600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr1:216986200-216986600	Enhancers	Brain Angular Gyrus	brain
26	chr1:216986200-216986800	Enhancers	Brain Substantia Nigra	brain
27	chr1:216986200-216986800	Enhancers	HMEC	breast
28	chr1:216986200-216987600	Enhancers	Psoas Muscle	Psoas

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