Variant report

Variant	rs11211487
Chromosome Location	chr1:47716231-47716232
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:47709950..47711562-chr1:47715114..47717131,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11211494	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11211509	0.85[AMR][1000 genomes]
rs11802603	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12061032	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12092248	0.85[AMR][1000 genomes]
rs12239246	0.85[AMR][1000 genomes]
rs13374419	0.85[AMR][1000 genomes]
rs57573975	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59216068	0.85[AMR][1000 genomes]
rs61243812	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6588095	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6660505	0.85[AMR][1000 genomes]
rs74074045	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7512955	0.85[AMR][1000 genomes]
rs7555179	0.85[AMR][1000 genomes]
rs9988633	0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv441692	chr1:47713661-47729088	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	5 gene(s)	inside rSNPs	n/a
2	nsv822531	chr1:47713892-47730083	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47705200-47766400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:47705600-47766400	Weak transcription	Primary T cells from cord blood	blood
3	chr1:47707600-47716600	Weak transcription	Hela-S3	cervix
4	chr1:47707600-47722800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr1:47709800-47725400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr1:47709800-47726000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr1:47709800-47745000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:47710000-47716400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr1:47710000-47716600	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr1:47710000-47716600	Weak transcription	HUVEC	blood vessel
11	chr1:47710400-47716600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr1:47711000-47727800	Weak transcription	A549	lung
13	chr1:47711200-47716600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr1:47711800-47716600	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr1:47712200-47718600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr1:47712400-47716400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr1:47712400-47720400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr1:47712600-47716600	Weak transcription	Dnd41	blood
19	chr1:47712600-47724200	Weak transcription	Fetal Intestine Large	intestine
20	chr1:47712600-47735000	Weak transcription	NHDF-Ad	bronchial
21	chr1:47712600-47742600	Weak transcription	Fetal Lung	lung
22	chr1:47712800-47729600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr1:47712800-47745600	Weak transcription	Fetal Brain Female	brain
24	chr1:47713000-47736400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr1:47713200-47716600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr1:47713200-47716600	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr1:47713200-47717000	Weak transcription	HepG2	liver
28	chr1:47713200-47745800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr1:47713400-47716600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr1:47713400-47716600	Weak transcription	Fetal Muscle Leg	muscle
31	chr1:47713400-47716600	Weak transcription	HMEC	breast
32	chr1:47713400-47716600	Weak transcription	HSMM	muscle
33	chr1:47713400-47716600	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr1:47713600-47716400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr1:47713600-47716800	Weak transcription	NH-A	brain
36	chr1:47713600-47718400	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr1:47713600-47725400	Weak transcription	Osteobl	bone
38	chr1:47713800-47716600	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr1:47713800-47716600	Weak transcription	GM12878-XiMat	blood
40	chr1:47713800-47716600	Weak transcription	K562	blood
41	chr1:47713800-47716800	Weak transcription	NHEK	skin
42	chr1:47713800-47725400	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr1:47713800-47745800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr1:47714000-47717200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr1:47714000-47718400	Weak transcription	Left Ventricle	heart
46	chr1:47714000-47724200	Weak transcription	Fetal Stomach	stomach
47	chr1:47714200-47716600	Weak transcription	Fetal Muscle Trunk	muscle
48	chr1:47714200-47724200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr1:47714200-47726600	Weak transcription	NHLF	lung
50	chr1:47714400-47716600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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