Variant report

Variant	rs2677117
Chromosome Location	chr1:215791005-215791006
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs14137	0.95[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.85[JPT][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2677111	0.95[CEU][hapmap];0.86[CHB][hapmap];0.82[CHD][hapmap]
rs2677118	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2797224	0.81[CHB][hapmap]
rs2797229	0.95[CEU][hapmap]
rs2797386	0.81[CHB][hapmap]
rs2797393	1.00[CEU][hapmap];0.81[GIH][hapmap];0.85[TSI][hapmap];0.80[AMR][1000 genomes];0.83[EUR][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	esv1796390	chr1:215561548-215799074	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv430324	chr1:215649163-216082605	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2677117	SYT14	cis	parietal	SCAN

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:215741800-215809800	Weak transcription	Colonic Mucosa	Colon
2	chr1:215750000-215805000	Weak transcription	Lung	lung
3	chr1:215750200-215795400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:215750200-215796000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:215750200-215804400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:215750200-215809200	Weak transcription	Gastric	stomach
7	chr1:215753200-215792200	Weak transcription	Aorta	Aorta
8	chr1:215755800-215804800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr1:215768000-215791800	Weak transcription	Fetal Brain Male	brain
10	chr1:215773600-215792400	Weak transcription	Brain Angular Gyrus	brain
11	chr1:215773800-215798600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr1:215774000-215795200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr1:215777200-215792200	Weak transcription	Rectal Smooth Muscle	rectum
14	chr1:215778800-215791600	Weak transcription	Brain Substantia Nigra	brain
15	chr1:215779400-215792200	Weak transcription	Ovary	ovary
16	chr1:215779400-215792400	Weak transcription	HMEC	breast
17	chr1:215779400-215793400	Weak transcription	NHLF	lung
18	chr1:215779400-215799200	Weak transcription	Psoas Muscle	Psoas
19	chr1:215780000-215794000	Weak transcription	Primary B cells from peripheral blood	blood
20	chr1:215781000-215797200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr1:215781200-215794800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr1:215781200-215797400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr1:215782200-215799400	Weak transcription	Fetal Heart	heart
24	chr1:215782800-215797200	Weak transcription	Dnd41	blood
25	chr1:215783000-215798800	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr1:215784200-215793800	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr1:215784200-215795200	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr1:215784800-215796600	Weak transcription	Spleen	Spleen
29	chr1:215785800-215792200	Weak transcription	Hela-S3	cervix
30	chr1:215786000-215792200	Weak transcription	NHEK	skin
31	chr1:215786400-215792000	Weak transcription	Brain Germinal Matrix	brain
32	chr1:215786600-215792400	Weak transcription	NH-A	brain
33	chr1:215786600-215809400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr1:215786800-215792200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr1:215786800-215794000	Weak transcription	Thymus	Thymus
36	chr1:215786800-215796200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr1:215786800-215797400	Weak transcription	Fetal Brain Female	brain
38	chr1:215786800-215798200	Weak transcription	Brain Cingulate Gyrus	brain
39	chr1:215786800-215799000	Weak transcription	Small Intestine	intestine
40	chr1:215786800-215801000	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr1:215787000-215792000	Weak transcription	Brain Anterior Caudate	brain
42	chr1:215787000-215792200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr1:215787000-215792200	Weak transcription	Pancreas	Pancrea
44	chr1:215787000-215793400	Weak transcription	Fetal Thymus	thymus
45	chr1:215787000-215796000	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr1:215787200-215791200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr1:215787200-215792200	Weak transcription	Brain Hippocampus Middle	brain
48	chr1:215787200-215792200	Weak transcription	Left Ventricle	heart
49	chr1:215787200-215792600	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr1:215787200-215795600	Weak transcription	Primary B cells from cord blood	blood

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