Variant report

Variant	rs1856319
Chromosome Location	chr1:67028414-67028415
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10749761	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10749762	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10889628	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12122384	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1338190	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3795530	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	nsv1210	chr1:67017295-67033203	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:67000800-67029800	Weak transcription	Primary hematopoietic stem cells	blood
2	chr1:67010000-67029000	Weak transcription	Fetal Kidney	kidney
3	chr1:67011800-67029800	Weak transcription	Fetal Brain Male	brain
4	chr1:67019000-67028600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr1:67023400-67028600	Weak transcription	Brain Anterior Caudate	brain
6	chr1:67023400-67028800	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr1:67023800-67028800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr1:67025000-67031600	Enhancers	Fetal Lung	lung
9	chr1:67025600-67028800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr1:67026000-67028800	Weak transcription	Brain Substantia Nigra	brain
11	chr1:67026000-67029000	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr1:67027200-67029600	Enhancers	Aorta	Aorta
13	chr1:67027200-67030200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr1:67027200-67032000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr1:67027400-67028800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr1:67027400-67028800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:67027400-67031400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr1:67027600-67028800	Enhancers	Hela-S3	cervix
19	chr1:67027600-67028800	Enhancers	Osteobl	bone
20	chr1:67027800-67028800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr1:67027800-67029200	Enhancers	Duodenum Smooth Muscle	Duodenum
22	chr1:67027800-67029600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr1:67027800-67029600	Enhancers	Brain Cingulate Gyrus	brain
24	chr1:67028000-67028800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr1:67028000-67028800	Enhancers	HUVEC	blood vessel
26	chr1:67028000-67029600	Enhancers	Brain Hippocampus Middle	brain
27	chr1:67028000-67029800	Enhancers	Fetal Heart	heart
28	chr1:67028200-67028600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr1:67028200-67028600	Enhancers	Brain Germinal Matrix	brain
30	chr1:67028200-67028800	Enhancers	HSMM	muscle
31	chr1:67028200-67028800	Enhancers	NH-A	brain
32	chr1:67028200-67029200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr1:67028200-67029200	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr1:67028200-67029200	Flanking Active TSS	NHLF	lung
35	chr1:67028200-67029400	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr1:67028200-67029400	Enhancers	Left Ventricle	heart
37	chr1:67028200-67029600	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr1:67028200-67029600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr1:67028200-67030000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
40	chr1:67028200-67030000	Enhancers	Brain Angular Gyrus	brain
41	chr1:67028200-67030000	Enhancers	Placenta	Placenta
42	chr1:67028200-67030000	Flanking Active TSS	NHDF-Ad	bronchial
43	chr1:67028200-67030200	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr1:67028200-67030200	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr1:67028400-67028600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr1:67028400-67028800	Enhancers	Stomach Smooth Muscle	stomach
47	chr1:67028400-67028800	Enhancers	HSMMtube	muscle
48	chr1:67028400-67028800	Enhancers	NHEK	skin
49	chr1:67028400-67029200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr1:67028400-67029600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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