Variant report

Variant	rs996123
Chromosome Location	chr1:67025343-67025344
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:67008052..67009564-chr1:67023947..67025718,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10749763	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10789210	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10889634	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10889635	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11208932	0.81[EUR][1000 genomes]
rs1373911	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1445575	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1562217	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1856318	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2044400	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2121051	0.80[AMR][1000 genomes]
rs4655628	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4655631	0.86[EUR][1000 genomes]
rs4655633	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4655635	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4655636	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4655640	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4655646	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6588207	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6656912	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6689864	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6696927	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6697088	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7524818	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7524851	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7532173	0.81[EUR][1000 genomes]
rs964574	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs984409	0.82[AMR][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:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:67000800-67029800	Weak transcription	Primary hematopoietic stem cells	blood
2	chr1:67009800-67028200	Weak transcription	Brain Germinal Matrix	brain
3	chr1:67010000-67029000	Weak transcription	Fetal Kidney	kidney
4	chr1:67011000-67028000	Weak transcription	HUVEC	blood vessel
5	chr1:67011800-67029800	Weak transcription	Fetal Brain Male	brain
6	chr1:67019000-67028600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr1:67020200-67028200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr1:67022200-67027200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr1:67022400-67027200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr1:67022400-67028200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:67022400-67028200	Weak transcription	Left Ventricle	heart
12	chr1:67022400-67028200	Weak transcription	NH-A	brain
13	chr1:67022400-67028400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:67022400-67028400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr1:67023000-67028400	Weak transcription	NHEK	skin
16	chr1:67023200-67027600	Weak transcription	Osteobl	bone
17	chr1:67023400-67027600	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr1:67023400-67028000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr1:67023400-67028600	Weak transcription	Brain Anterior Caudate	brain
20	chr1:67023400-67028800	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr1:67023600-67025400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr1:67023600-67028200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr1:67023800-67025400	Weak transcription	Brain Angular Gyrus	brain
24	chr1:67023800-67027400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr1:67023800-67028800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr1:67024000-67026400	Weak transcription	NHDF-Ad	bronchial
27	chr1:67024000-67028200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr1:67024600-67025600	Enhancers	Aorta	Aorta
29	chr1:67024800-67025400	Enhancers	Brain Substantia Nigra	brain
30	chr1:67024800-67026200	Enhancers	Fetal Heart	heart
31	chr1:67025000-67025600	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr1:67025000-67025600	Enhancers	Brain Hippocampus Middle	brain
33	chr1:67025000-67026000	Enhancers	Brain Cingulate Gyrus	brain
34	chr1:67025000-67026000	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr1:67025000-67031600	Enhancers	Fetal Lung	lung
36	chr1:67025200-67025400	Genic enhancers	NHLF	lung
37	chr1:67025200-67025600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr1:67025200-67025600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr1:67025200-67026000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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