Variant report

Variant	rs28673510
Chromosome Location	chr1:57030743-57030744
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11206845	1.00[AFR][1000 genomes]
rs11206846	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11800865	0.87[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs11800883	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11810635	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12058536	1.00[AFR][1000 genomes]
rs12059747	1.00[AFR][1000 genomes]
rs12059843	1.00[AFR][1000 genomes]
rs12070247	1.00[AFR][1000 genomes]
rs12070557	1.00[AFR][1000 genomes]
rs12090895	1.00[AFR][1000 genomes]
rs12098117	1.00[AFR][1000 genomes]
rs1572058	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41446844	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56332336	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6661359	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6699960	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6702052	1.00[AFR][1000 genomes]
rs72664373	0.96[ASN][1000 genomes]
rs72664400	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72903425	1.00[AFR][1000 genomes]
rs7539051	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][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:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57016000-57038600	Weak transcription	HSMMtube	muscle
2	chr1:57017400-57035400	Weak transcription	Esophagus	oesophagus
3	chr1:57017400-57035400	Weak transcription	Fetal Thymus	thymus
4	chr1:57017400-57039400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:57017800-57040800	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr1:57019800-57031400	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr1:57020200-57031800	Weak transcription	Placenta	Placenta
8	chr1:57021400-57032800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:57023800-57033000	Enhancers	Brain Hippocampus Middle	brain
10	chr1:57024200-57030800	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr1:57025600-57040000	Weak transcription	Fetal Muscle Trunk	muscle
12	chr1:57026000-57033200	Enhancers	Fetal Intestine Large	intestine
13	chr1:57026200-57032200	Enhancers	Ovary	ovary
14	chr1:57026200-57033000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:57026800-57033000	Enhancers	Fetal Intestine Small	intestine
16	chr1:57027000-57034200	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr1:57027400-57030800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr1:57027400-57032000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr1:57027400-57034200	Enhancers	Brain Anterior Caudate	brain
20	chr1:57027400-57034400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr1:57027600-57030800	Enhancers	Brain Germinal Matrix	brain
22	chr1:57027600-57031800	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr1:57027600-57032800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr1:57027600-57033000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr1:57027800-57030800	Enhancers	Fetal Brain Female	brain
26	chr1:57027800-57032400	Enhancers	H9 Cell Line	embryonic stem cell
27	chr1:57027800-57032800	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr1:57027800-57033000	Enhancers	H1 Cell Line	embryonic stem cell
29	chr1:57027800-57033200	Enhancers	Brain Cingulate Gyrus	brain
30	chr1:57027800-57034400	Enhancers	Brain Substantia Nigra	brain
31	chr1:57028000-57031600	Enhancers	Fetal Lung	lung
32	chr1:57028000-57032600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr1:57028000-57033000	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr1:57028000-57035400	Weak transcription	Colonic Mucosa	Colon
35	chr1:57028200-57032800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr1:57028200-57032800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr1:57028200-57033000	Enhancers	Brain Angular Gyrus	brain
38	chr1:57028400-57031200	Flanking Active TSS	Liver	Liver
39	chr1:57028400-57032600	Enhancers	Adipose Nuclei	Adipose
40	chr1:57028400-57033000	Enhancers	Duodenum Mucosa	Duodenum
41	chr1:57028600-57030800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
42	chr1:57028600-57031200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr1:57028600-57031600	Weak transcription	Fetal Kidney	kidney
44	chr1:57028600-57031600	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr1:57028600-57031800	Weak transcription	A549	lung
46	chr1:57028600-57033000	Enhancers	Colon Smooth Muscle	Colon
47	chr1:57028800-57034400	Weak transcription	Lung	lung
48	chr1:57028800-57035400	Weak transcription	Gastric	stomach
49	chr1:57029000-57030800	Weak transcription	Pancreas	Pancrea
50	chr1:57029000-57031600	Genic enhancers	NHDF-Ad	bronchial

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