Variant report

Variant	rs17649669
Chromosome Location	chr1:216987544-216987545
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11572579	0.87[AMR][1000 genomes]
rs17650126	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17651280	1.00[CEU][hapmap];0.87[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:36 , 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	chr1:216980400-216988000	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr1:216983200-216988600	Weak transcription	Right Atrium	heart
5	chr1:216983200-216989200	Weak transcription	Gastric	stomach
6	chr1:216983600-216988600	Weak transcription	Left Ventricle	heart
7	chr1:216983600-216988800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:216985000-216987600	Weak transcription	Fetal Kidney	kidney
9	chr1:216985000-216988600	Enhancers	Fetal Heart	heart
10	chr1:216985200-216988400	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr1:216985400-216988200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:216985400-216988400	Weak transcription	Fetal Intestine Small	intestine
13	chr1:216985400-216989000	Weak transcription	Duodenum Mucosa	Duodenum
14	chr1:216985600-216988400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr1:216985800-216989000	Weak transcription	Fetal Intestine Large	intestine
16	chr1:216986000-216987800	Enhancers	HSMMtube	muscle
17	chr1:216986200-216987600	Enhancers	Psoas Muscle	Psoas
18	chr1:216986400-216988600	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr1:216986400-216989600	Enhancers	Fetal Muscle Leg	muscle
20	chr1:216986600-216987800	Weak transcription	Fetal Lung	lung
21	chr1:216986600-216988400	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr1:216986600-216988800	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr1:216986600-216988800	Weak transcription	Brain Angular Gyrus	brain
24	chr1:216986600-216988800	Weak transcription	HSMM	muscle
25	chr1:216986800-216988400	Weak transcription	Brain Anterior Caudate	brain
26	chr1:216986800-216988400	Weak transcription	Brain Substantia Nigra	brain
27	chr1:216986800-216988600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr1:216987000-216988800	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr1:216987000-216991000	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr1:216987400-216987600	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr1:216987400-216987600	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr1:216987400-216987600	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr1:216987400-216988400	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr1:216987400-216988800	Weak transcription	Brain Germinal Matrix	brain
35	chr1:216987400-216988800	Enhancers	Brain Hippocampus Middle	brain
36	chr1:216987400-216989600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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