Variant report

Variant	rs1930760
Chromosome Location	chr1:57007539-57007540
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10888977	0.88[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs10888979	0.83[JPT][hapmap];0.83[ASN][1000 genomes]
rs11206838	0.82[EUR][1000 genomes]
rs11206839	0.83[JPT][hapmap];0.83[ASN][1000 genomes]
rs11206840	0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs11206841	0.83[JPT][hapmap]
rs12082242	0.91[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs12134109	0.81[EUR][1000 genomes]
rs1261411	0.82[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs1759750	0.83[AFR][1000 genomes]
rs1759752	0.93[YRI][hapmap];0.89[AFR][1000 genomes]
rs1777274	0.85[AFR][1000 genomes]
rs1777277	0.89[AFR][1000 genomes]
rs1930762	0.93[YRI][hapmap]
rs2017955	0.82[EUR][1000 genomes]
rs4532850	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs4912377	0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs7529520	0.90[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs7535757	0.91[CHB][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs7551402	0.82[EUR][1000 genomes]
rs7556056	0.89[YRI][hapmap];0.82[AFR][1000 genomes]
rs953856	0.89[CEU][hapmap];0.93[YRI][hapmap];0.91[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs953857	0.82[EUR][1000 genomes]
rs993075	0.97[YRI][hapmap];0.87[AFR][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:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56987000-57015000	Genic enhancers	NHDF-Ad	bronchial
2	chr1:56992800-57011200	Weak transcription	Stomach Mucosa	stomach
3	chr1:56993600-57007800	Weak transcription	Primary B cells from cord blood	blood
4	chr1:56994000-57012400	Weak transcription	Fetal Brain Male	brain
5	chr1:56994000-57012800	Weak transcription	Fetal Brain Female	brain
6	chr1:56999400-57012800	Weak transcription	HSMMtube	muscle
7	chr1:57000200-57008200	Weak transcription	Fetal Kidney	kidney
8	chr1:57000400-57011000	Weak transcription	Gastric	stomach
9	chr1:57000400-57013000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:57001200-57018800	Weak transcription	A549	lung
11	chr1:57001800-57018600	Weak transcription	Small Intestine	intestine
12	chr1:57001800-57021800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr1:57002400-57008600	Enhancers	Brain Hippocampus Middle	brain
14	chr1:57002600-57008600	Enhancers	Brain Anterior Caudate	brain
15	chr1:57002800-57013200	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr1:57002800-57018600	Weak transcription	Thymus	Thymus
17	chr1:57003000-57007600	Enhancers	Adipose Nuclei	Adipose
18	chr1:57003000-57008000	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr1:57003000-57008600	Enhancers	H1 Cell Line	embryonic stem cell
20	chr1:57003200-57007600	Enhancers	Brain Substantia Nigra	brain
21	chr1:57003200-57007600	Enhancers	Fetal Lung	lung
22	chr1:57003200-57011400	Weak transcription	Lung	lung
23	chr1:57003200-57019800	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr1:57003400-57008600	Enhancers	Ovary	ovary
25	chr1:57003400-57015400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr1:57003600-57007600	Enhancers	Brain Cingulate Gyrus	brain
27	chr1:57003600-57013200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr1:57003800-57007800	Weak transcription	Fetal Muscle Trunk	muscle
29	chr1:57003800-57011200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr1:57004000-57007800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr1:57004000-57007800	Weak transcription	HSMM	muscle
32	chr1:57004000-57008000	Enhancers	HepG2	liver
33	chr1:57004000-57008200	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr1:57004000-57011200	Weak transcription	Spleen	Spleen
35	chr1:57004000-57014800	Weak transcription	Fetal Thymus	thymus
36	chr1:57004200-57011400	Weak transcription	Esophagus	oesophagus
37	chr1:57004400-57013200	Weak transcription	Duodenum Mucosa	Duodenum
38	chr1:57004600-57007600	Weak transcription	Placenta	Placenta
39	chr1:57004600-57008000	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr1:57004600-57008400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr1:57004600-57010400	Enhancers	Colon Smooth Muscle	Colon
42	chr1:57005000-57007600	Enhancers	Rectal Smooth Muscle	rectum
43	chr1:57005200-57008600	Enhancers	Psoas Muscle	Psoas
44	chr1:57005600-57008000	Weak transcription	Right Ventricle	heart
45	chr1:57005600-57008400	Weak transcription	Brain Angular Gyrus	brain
46	chr1:57005600-57009200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr1:57005600-57013800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr1:57005800-57007600	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr1:57005800-57007600	Enhancers	Osteobl	bone
50	chr1:57005800-57008000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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