Variant report

Variant	rs233070
Chromosome Location	chr1:85805662-85805663
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11802390	1.00[AMR][1000 genomes]
rs11802530	1.00[AMR][1000 genomes]
rs11802673	1.00[AMR][1000 genomes]
rs11806417	1.00[AMR][1000 genomes]
rs11808537	1.00[AMR][1000 genomes]
rs11809702	1.00[AMR][1000 genomes]
rs11809826	1.00[AMR][1000 genomes]
rs11809833	1.00[AMR][1000 genomes]
rs11811123	1.00[AMR][1000 genomes]
rs34609757	1.00[AMR][1000 genomes]
rs34799808	1.00[AMR][1000 genomes]
rs36069698	1.00[AMR][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	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

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85792200-85806000	Weak transcription	Fetal Kidney	kidney
2	chr1:85796600-85809400	Weak transcription	Stomach Mucosa	stomach
3	chr1:85796800-85806400	Weak transcription	Small Intestine	intestine
4	chr1:85796800-85809600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr1:85798400-85806200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr1:85798800-85808400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr1:85798800-85808400	Weak transcription	Ovary	ovary
8	chr1:85798800-85824800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:85798800-85824800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:85799000-85813600	Weak transcription	Fetal Intestine Large	intestine
11	chr1:85800200-85805800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr1:85800400-85808800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr1:85800400-85815000	Weak transcription	Fetal Intestine Small	intestine
14	chr1:85800800-85807600	Weak transcription	HSMMtube	muscle
15	chr1:85803400-85807000	Enhancers	Hela-S3	cervix
16	chr1:85803600-85806800	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr1:85803600-85807200	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr1:85803600-85807800	Genic enhancers	Osteobl	bone
19	chr1:85803600-85808600	Enhancers	HUVEC	blood vessel
20	chr1:85804200-85806200	Enhancers	NHEK	skin
21	chr1:85804200-85807600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr1:85804200-85808600	Genic enhancers	HSMM	muscle
23	chr1:85804400-85805800	Weak transcription	Left Ventricle	heart
24	chr1:85804400-85805800	Weak transcription	Psoas Muscle	Psoas
25	chr1:85804400-85806800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr1:85804600-85806200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr1:85804800-85805800	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr1:85804800-85805800	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr1:85804800-85811000	Enhancers	Muscle Satellite Cultured Cells	--
30	chr1:85805000-85806200	Enhancers	A549	lung
31	chr1:85805000-85806600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr1:85805000-85806800	Enhancers	Adipose Nuclei	Adipose
33	chr1:85805000-85807000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr1:85805000-85807000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr1:85805000-85808000	Genic enhancers	NHDF-Ad	bronchial
36	chr1:85805200-85806400	Enhancers	Pancreas	Pancrea
37	chr1:85805200-85807000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr1:85805200-85809000	Weak transcription	Fetal Heart	heart
39	chr1:85805400-85805800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr1:85805400-85805800	Enhancers	Aorta	Aorta
41	chr1:85805400-85805800	Enhancers	HepG2	liver
42	chr1:85805400-85806000	Enhancers	Right Atrium	heart
43	chr1:85805400-85806000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
44	chr1:85805400-85806600	Enhancers	Colon Smooth Muscle	Colon
45	chr1:85805400-85807600	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr1:85805400-85808400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr1:85805600-85805800	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr1:85805600-85806400	Enhancers	Rectal Smooth Muscle	rectum
49	chr1:85805600-85806800	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr1:85805600-85807000	Enhancers	NH-A	brain

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