Variant report

Variant	rs17114014
Chromosome Location	chr1:56958208-56958209
allele	C/T
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]
rs12096715	1.00[MEX][hapmap]
rs17113998	0.85[AFR][1000 genomes]
rs17114023	1.00[MEX][hapmap];0.91[YRI][hapmap];1.00[EUR][1000 genomes]
rs4418655	1.00[EUR][1000 genomes]
rs55721299	1.00[EUR][1000 genomes]
rs56348119	1.00[EUR][1000 genomes]
rs60916914	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61309058	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7530744	1.00[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	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56943800-56959400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:56944400-56959600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr1:56944800-56960800	Weak transcription	Fetal Kidney	kidney
4	chr1:56948800-56965200	Weak transcription	Brain Angular Gyrus	brain
5	chr1:56950400-56959400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr1:56951000-56959000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr1:56953600-56959400	Weak transcription	Aorta	Aorta
8	chr1:56955200-56961000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr1:56955400-56960000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:56956000-56958400	Enhancers	HUVEC	blood vessel
11	chr1:56956000-56960800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr1:56956200-56958800	Enhancers	Liver	Liver
13	chr1:56956400-56958400	Enhancers	Brain Hippocampus Middle	brain
14	chr1:56956400-56961000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr1:56956600-56959600	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr1:56956600-56959800	Weak transcription	Fetal Thymus	thymus
17	chr1:56956600-56961200	Weak transcription	A549	lung
18	chr1:56957000-56959600	Strong transcription	Fetal Intestine Large	intestine
19	chr1:56957200-56958400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr1:56957200-56958400	Genic enhancers	Muscle Satellite Cultured Cells	--
21	chr1:56957200-56958400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr1:56957200-56958400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr1:56957200-56958400	Enhancers	Esophagus	oesophagus
24	chr1:56957200-56958400	Genic enhancers	Fetal Muscle Trunk	muscle
25	chr1:56957200-56958400	Enhancers	Psoas Muscle	Psoas
26	chr1:56957200-56958400	Genic enhancers	Right Ventricle	heart
27	chr1:56957200-56962400	Genic enhancers	Placenta	Placenta
28	chr1:56957400-56958400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr1:56957400-56958400	Strong transcription	Fetal Intestine Small	intestine
30	chr1:56957400-56958400	Genic enhancers	Left Ventricle	heart
31	chr1:56957400-56958400	Strong transcription	Thymus	Thymus
32	chr1:56957400-56958400	Enhancers	Spleen	Spleen
33	chr1:56957400-56958400	Genic enhancers	HepG2	liver
34	chr1:56957400-56958400	Genic enhancers	NHLF	lung
35	chr1:56957400-56958800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr1:56957400-56963800	Genic enhancers	NHDF-Ad	bronchial
37	chr1:56957400-56971800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr1:56957600-56958600	Strong transcription	Fetal Stomach	stomach
39	chr1:56957600-56959200	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr1:56957600-56959200	Weak transcription	Stomach Mucosa	stomach
41	chr1:56957600-56959600	Weak transcription	Brain Cingulate Gyrus	brain
42	chr1:56957600-56959600	Weak transcription	HSMMtube	muscle
43	chr1:56957600-56959800	Weak transcription	Stomach Smooth Muscle	stomach
44	chr1:56957600-56960000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr1:56957600-56961000	Weak transcription	Duodenum Mucosa	Duodenum
46	chr1:56957600-56961200	Weak transcription	NH-A	brain
47	chr1:56957600-56971800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr1:56957800-56959400	Weak transcription	Rectal Smooth Muscle	rectum
49	chr1:56957800-56961000	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr1:56957800-56961600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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