Variant report

Variant	rs6702052
Chromosome Location	chr1:57029869-57029870
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11206845	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11206846	0.94[AFR][1000 genomes]
rs11800865	0.87[AFR][1000 genomes]
rs11800883	0.95[AFR][1000 genomes]
rs11805547	0.81[ASN][1000 genomes]
rs11810635	1.00[AFR][1000 genomes]
rs12058459	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12058536	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12059747	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12059843	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12070247	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12070557	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12090895	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12098117	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1572058	0.81[AFR][1000 genomes]
rs17114119	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17114125	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1953114	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28365912	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28673510	1.00[AFR][1000 genomes]
rs41446844	0.95[AFR][1000 genomes]
rs56332336	0.97[AFR][1000 genomes]
rs6661359	1.00[AFR][1000 genomes]
rs6687908	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72903425	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7539051	0.84[AFR][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:85 , 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	chr1:57019200-57030400	Weak transcription	HSMM	muscle
7	chr1:57019400-57030000	Weak transcription	Osteobl	bone
8	chr1:57019400-57030200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr1:57019800-57031400	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr1:57020200-57031800	Weak transcription	Placenta	Placenta
11	chr1:57021400-57032800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:57022000-57030400	Weak transcription	Primary B cells from peripheral blood	blood
13	chr1:57023800-57030400	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr1:57023800-57033000	Enhancers	Brain Hippocampus Middle	brain
15	chr1:57024200-57030000	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr1:57024200-57030600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr1:57024200-57030600	Weak transcription	Fetal Muscle Leg	muscle
18	chr1:57024200-57030800	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr1:57025600-57030600	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr1:57025600-57040000	Weak transcription	Fetal Muscle Trunk	muscle
21	chr1:57026000-57033200	Enhancers	Fetal Intestine Large	intestine
22	chr1:57026200-57032200	Enhancers	Ovary	ovary
23	chr1:57026200-57033000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:57026800-57033000	Enhancers	Fetal Intestine Small	intestine
25	chr1:57027000-57034200	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr1:57027400-57030800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr1:57027400-57032000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr1:57027400-57034200	Enhancers	Brain Anterior Caudate	brain
29	chr1:57027400-57034400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr1:57027600-57030000	Enhancers	Psoas Muscle	Psoas
31	chr1:57027600-57030400	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr1:57027600-57030800	Enhancers	Brain Germinal Matrix	brain
33	chr1:57027600-57031800	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr1:57027600-57032800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr1:57027600-57033000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr1:57027800-57030000	Enhancers	Small Intestine	intestine
37	chr1:57027800-57030600	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr1:57027800-57030800	Enhancers	Fetal Brain Female	brain
39	chr1:57027800-57032400	Enhancers	H9 Cell Line	embryonic stem cell
40	chr1:57027800-57032800	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr1:57027800-57033000	Enhancers	H1 Cell Line	embryonic stem cell
42	chr1:57027800-57033200	Enhancers	Brain Cingulate Gyrus	brain
43	chr1:57027800-57034400	Enhancers	Brain Substantia Nigra	brain
44	chr1:57028000-57030600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr1:57028000-57030600	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr1:57028000-57031600	Enhancers	Fetal Lung	lung
47	chr1:57028000-57032600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr1:57028000-57033000	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr1:57028000-57035400	Weak transcription	Colonic Mucosa	Colon
50	chr1:57028200-57032800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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