Variant report

Variant	rs6693836
Chromosome Location	chr1:185411306-185411307
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10489481	0.82[CHB][hapmap];0.85[JPT][hapmap]
rs10732976	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4650681	0.92[ASN][1000 genomes]
rs4651259	0.97[ASN][1000 genomes]
rs7544563	0.91[JPT][hapmap]

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	nsv548398	chr1:185136458-186003094	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv1001493	chr1:185408956-185436842	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6693836	C1orf14	cis	parietal	SCAN
rs6693836	GLUL	cis	parietal	SCAN

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185407000-185412000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr1:185407400-185412200	Weak transcription	Right Atrium	heart
3	chr1:185407600-185411400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:185407800-185411400	Enhancers	Muscle Satellite Cultured Cells	--
5	chr1:185407800-185411600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr1:185407800-185411600	Enhancers	Hela-S3	cervix
7	chr1:185407800-185411800	Enhancers	HSMMtube	muscle
8	chr1:185408200-185411600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:185408200-185411600	Enhancers	Fetal Intestine Large	intestine
10	chr1:185408200-185411600	Enhancers	Fetal Intestine Small	intestine
11	chr1:185408200-185411600	Enhancers	HMEC	breast
12	chr1:185408200-185411600	Enhancers	NHEK	skin
13	chr1:185408200-185411800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr1:185408200-185411800	Enhancers	Placenta	Placenta
15	chr1:185408200-185412000	Enhancers	Primary T cells fromperipheralblood	blood
16	chr1:185408600-185411600	Enhancers	Osteobl	bone
17	chr1:185409000-185412000	Enhancers	Fetal Heart	heart
18	chr1:185409600-185411600	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr1:185410000-185411800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr1:185410000-185411800	Enhancers	NH-A	brain
21	chr1:185410200-185411400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr1:185410200-185411400	Enhancers	Placenta Amnion	Placenta Amnion
23	chr1:185410200-185412400	Enhancers	Fetal Kidney	kidney
24	chr1:185410400-185411600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr1:185410400-185411600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr1:185410400-185411600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr1:185410400-185411600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr1:185410400-185411600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr1:185410400-185411600	Enhancers	Fetal Muscle Leg	muscle
30	chr1:185410400-185411800	Enhancers	HSMM	muscle
31	chr1:185410800-185411400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr1:185410800-185411600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr1:185410800-185411600	Enhancers	Aorta	Aorta
34	chr1:185410800-185411600	Enhancers	Left Ventricle	heart
35	chr1:185410800-185411600	Enhancers	Right Ventricle	heart
36	chr1:185411000-185411800	Enhancers	A549	lung
37	chr1:185411200-185411400	Enhancers	Primary T helper cells fromperipheralblood	blood

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