Variant report

Variant	rs57527592
Chromosome Location	chr1:85871880-85871881
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

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]
rs11806483	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11809053	1.00[AMR][1000 genomes]
rs11811186	0.96[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]
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	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57053091	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:4 , 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	nsv830470	chr1:85820775-86014080	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1008877	chr1:85843238-85897570	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv3393958	chr1:85857980-85874598	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85856000-85872800	Weak transcription	Fetal Intestine Small	intestine
2	chr1:85862200-85874600	Weak transcription	Pancreas	Pancrea
3	chr1:85864000-85872600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:85864400-85872200	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr1:85864400-85873000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr1:85864400-85874600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr1:85864800-85876800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr1:85865400-85872800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr1:85868600-85872800	Enhancers	Liver	Liver
10	chr1:85869000-85872800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr1:85869200-85873200	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr1:85869400-85872200	Weak transcription	Fetal Kidney	kidney
13	chr1:85869800-85874400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:85870000-85873000	Enhancers	HSMMtube	muscle
15	chr1:85870200-85872600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr1:85870200-85874800	Enhancers	Osteobl	bone
17	chr1:85870400-85872800	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr1:85870400-85872800	Weak transcription	Stomach Smooth Muscle	stomach
19	chr1:85870600-85872800	Weak transcription	Brain Cingulate Gyrus	brain
20	chr1:85870600-85872800	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr1:85870800-85872000	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr1:85870800-85872600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr1:85870800-85872600	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr1:85870800-85872800	Enhancers	NHDF-Ad	bronchial
25	chr1:85871000-85872200	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr1:85871000-85872200	Genic enhancers	HUVEC	blood vessel
27	chr1:85871000-85872800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:85871400-85872000	Enhancers	Fetal Lung	lung
29	chr1:85871400-85872800	Weak transcription	Brain Substantia Nigra	brain
30	chr1:85871400-85873000	Weak transcription	Brain Anterior Caudate	brain
31	chr1:85871400-85874000	Enhancers	HSMM	muscle
32	chr1:85871400-85878400	Weak transcription	Fetal Muscle Leg	muscle
33	chr1:85871600-85872200	Enhancers	Adipose Nuclei	Adipose
34	chr1:85871600-85872200	Enhancers	Rectal Smooth Muscle	rectum
35	chr1:85871600-85872600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr1:85871600-85872800	Weak transcription	Aorta	Aorta
37	chr1:85871600-85873200	Weak transcription	Stomach Mucosa	stomach
38	chr1:85871600-85876600	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr1:85871800-85872000	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr1:85871800-85872600	Weak transcription	A549	lung
41	chr1:85871800-85872800	Enhancers	Muscle Satellite Cultured Cells	--
42	chr1:85871800-85872800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr1:85871800-85872800	Weak transcription	Colon Smooth Muscle	Colon
44	chr1:85871800-85872800	Enhancers	NH-A	brain
45	chr1:85871800-85873000	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr1:85871800-85873000	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr1:85871800-85873000	Weak transcription	Fetal Stomach	stomach
48	chr1:85871800-85873200	Weak transcription	NHLF	lung
49	chr1:85871800-85873600	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr1:85871800-85877000	Weak transcription	Ovary	ovary

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