Variant report

Variant	rs11806483
Chromosome Location	chr1:85807420-85807421
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10489509	1.00[AMR][1000 genomes]
rs10489512	1.00[AMR][1000 genomes]
rs10873699	1.00[AMR][1000 genomes]
rs11161596	1.00[AMR][1000 genomes]
rs11799987	1.00[AMR][1000 genomes]
rs11802126	1.00[AMR][1000 genomes]
rs11805144	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11805470	1.00[AMR][1000 genomes]
rs11809053	1.00[AMR][1000 genomes]
rs11811186	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12059670	1.00[AMR][1000 genomes]
rs12071648	1.00[AMR][1000 genomes]
rs12082194	1.00[AMR][1000 genomes]
rs17126044	1.00[AMR][1000 genomes]
rs17126791	1.00[AMR][1000 genomes]
rs182845	1.00[AMR][1000 genomes]
rs20862	1.00[AMR][1000 genomes]
rs233063	1.00[AMR][1000 genomes]
rs233064	1.00[AMR][1000 genomes]
rs233086	1.00[ASN][1000 genomes]
rs233122	1.00[AMR][1000 genomes]
rs233126	1.00[AMR][1000 genomes]
rs233129	1.00[AMR][1000 genomes]
rs2474121	1.00[AMR][1000 genomes]
rs41438644	1.00[AMR][1000 genomes]
rs4399206	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57053091	1.00[AMR][1000 genomes]
rs57527592	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57769466	1.00[AMR][1000 genomes]
rs60176254	1.00[AMR][1000 genomes]
rs60202981	1.00[AMR][1000 genomes]
rs61473029	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:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85796600-85809400	Weak transcription	Stomach Mucosa	stomach
2	chr1:85796800-85809600	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr1:85798800-85808400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:85798800-85808400	Weak transcription	Ovary	ovary
5	chr1:85798800-85824800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:85798800-85824800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:85799000-85813600	Weak transcription	Fetal Intestine Large	intestine
8	chr1:85800400-85808800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr1:85800400-85815000	Weak transcription	Fetal Intestine Small	intestine
10	chr1:85800800-85807600	Weak transcription	HSMMtube	muscle
11	chr1:85803600-85807800	Genic enhancers	Osteobl	bone
12	chr1:85803600-85808600	Enhancers	HUVEC	blood vessel
13	chr1:85804200-85807600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr1:85804200-85808600	Genic enhancers	HSMM	muscle
15	chr1:85804800-85811000	Enhancers	Muscle Satellite Cultured Cells	--
16	chr1:85805000-85808000	Genic enhancers	NHDF-Ad	bronchial
17	chr1:85805200-85809000	Weak transcription	Fetal Heart	heart
18	chr1:85805400-85807600	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr1:85805400-85808400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr1:85805600-85807600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr1:85805600-85807600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr1:85805600-85807800	Weak transcription	HMEC	breast
23	chr1:85805600-85807800	Weak transcription	NHLF	lung
24	chr1:85805600-85808400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr1:85805800-85807600	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr1:85805800-85807600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr1:85805800-85811400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr1:85806000-85810400	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr1:85806200-85807600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr1:85806200-85808000	Weak transcription	NHEK	skin
31	chr1:85806400-85808000	Weak transcription	Rectal Smooth Muscle	rectum
32	chr1:85806400-85808600	Weak transcription	Fetal Kidney	kidney
33	chr1:85806400-85808800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr1:85806400-85815800	Weak transcription	Pancreas	Pancrea
35	chr1:85806600-85807600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr1:85806600-85807600	Weak transcription	Aorta	Aorta
37	chr1:85806600-85808400	Weak transcription	Colon Smooth Muscle	Colon
38	chr1:85806600-85813600	Weak transcription	Left Ventricle	heart
39	chr1:85806600-85814200	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr1:85806800-85807600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr1:85806800-85807600	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr1:85806800-85807800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr1:85806800-85807800	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr1:85806800-85807800	Weak transcription	Fetal Muscle Leg	muscle
45	chr1:85806800-85807800	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr1:85806800-85808400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr1:85806800-85808400	Weak transcription	Adipose Nuclei	Adipose
48	chr1:85806800-85808400	Weak transcription	Psoas Muscle	Psoas
49	chr1:85806800-85809000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr1:85806800-85810200	Weak transcription	Lung	lung

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