Variant report

Variant	rs930912
Chromosome Location	chr1:85617482-85617483
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10493762	0.88[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs11583836	0.80[JPT][hapmap]
rs17122040	0.90[ASN][1000 genomes]
rs17122364	0.84[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2054238	0.84[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs2647396	0.86[JPT][hapmap]
rs2735587	0.86[JPT][hapmap]
rs2735591	0.86[JPT][hapmap]
rs2735592	0.86[JPT][hapmap]
rs4243776	0.82[ASN][1000 genomes]
rs4255398	0.81[EUR][1000 genomes]
rs4907138	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4907139	0.86[JPT][hapmap];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6663690	0.81[JPT][hapmap]
rs72722607	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7511739	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7535388	0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv34165	chr1:85542040-85846249	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv830459	chr1:85589585-85786311	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85603800-85618800	Weak transcription	Gastric	stomach
2	chr1:85603800-85632200	Weak transcription	Fetal Lung	lung
3	chr1:85608600-85655200	Weak transcription	Aorta	Aorta
4	chr1:85608800-85629200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr1:85610400-85647800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:85610600-85630600	Weak transcription	Fetal Intestine Small	intestine
7	chr1:85611400-85629600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr1:85614000-85617600	Enhancers	Fetal Heart	heart
9	chr1:85614400-85618800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr1:85614800-85619000	Weak transcription	Right Atrium	heart
11	chr1:85615000-85621800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr1:85615400-85647600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:85615400-85655200	Weak transcription	Lung	lung
14	chr1:85615600-85654000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr1:85615800-85625200	Weak transcription	Rectal Smooth Muscle	rectum
16	chr1:85615800-85627200	Weak transcription	Ovary	ovary
17	chr1:85615800-85627600	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr1:85615800-85629400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr1:85615800-85630600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr1:85615800-85632800	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr1:85615800-85665800	Weak transcription	Esophagus	oesophagus
22	chr1:85616000-85618400	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr1:85616000-85618600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr1:85616000-85618800	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr1:85616000-85618800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr1:85616000-85618800	Weak transcription	GM12878-XiMat	blood
27	chr1:85616000-85632200	Weak transcription	Stomach Smooth Muscle	stomach
28	chr1:85616000-85634600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr1:85616000-85638800	Weak transcription	Colon Smooth Muscle	Colon
30	chr1:85616400-85627600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr1:85616400-85635800	Weak transcription	Left Ventricle	heart
32	chr1:85617000-85617600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr1:85617000-85617800	Enhancers	Liver	Liver
34	chr1:85617000-85619400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr1:85617200-85617600	Enhancers	HepG2	liver
36	chr1:85617400-85619200	Weak transcription	Fetal Intestine Large	intestine

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