Variant report

Variant	rs2008304
Chromosome Location	chr1:63193039-63193040
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	chr1:63186584..63188950-chr1:63191033..63193333,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1887587	0.89[AMR][1000 genomes]
rs1927488	0.89[AMR][1000 genomes]
rs2094491	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2149117	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4542244	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6587985	0.89[AMR][1000 genomes]
rs72915162	0.82[EUR][1000 genomes]

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:63187200-63195200	Weak transcription	Fetal Stomach	stomach
2	chr1:63187400-63198000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:63188600-63194200	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr1:63189800-63193800	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr1:63190200-63195800	Weak transcription	Brain Cingulate Gyrus	brain
6	chr1:63190400-63193600	Enhancers	Rectal Mucosa Donor 29	rectum
7	chr1:63190400-63194800	Weak transcription	Brain Angular Gyrus	brain
8	chr1:63191200-63193400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr1:63191200-63194600	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr1:63191200-63194800	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr1:63191600-63193400	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr1:63191800-63193200	Weak transcription	NH-A	brain
13	chr1:63191800-63193200	Enhancers	Osteobl	bone
14	chr1:63191800-63193400	Weak transcription	Aorta	Aorta
15	chr1:63191800-63193400	Weak transcription	Stomach Smooth Muscle	stomach
16	chr1:63191800-63194600	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr1:63191800-63198000	Weak transcription	Fetal Intestine Small	intestine
18	chr1:63191800-63199400	Weak transcription	Duodenum Mucosa	Duodenum
19	chr1:63192000-63193200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr1:63192000-63193200	Weak transcription	Brain Hippocampus Middle	brain
21	chr1:63192000-63193400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:63192000-63193400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr1:63192000-63193400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr1:63192000-63193400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr1:63192000-63193400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr1:63192000-63193400	Weak transcription	Brain Anterior Caudate	brain
27	chr1:63192000-63193400	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr1:63192000-63193400	Weak transcription	Stomach Mucosa	stomach
29	chr1:63192000-63193400	Weak transcription	NHDF-Ad	bronchial
30	chr1:63192000-63193400	Weak transcription	NHLF	lung
31	chr1:63192000-63193600	Weak transcription	Ovary	ovary
32	chr1:63192000-63194000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr1:63192000-63194200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr1:63192000-63194200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr1:63192000-63194400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr1:63192000-63194800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr1:63192000-63194800	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr1:63192000-63197800	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr1:63192000-63201200	Weak transcription	Colon Smooth Muscle	Colon
40	chr1:63192200-63193200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr1:63192200-63193200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr1:63192200-63193200	Weak transcription	Brain Substantia Nigra	brain
43	chr1:63192200-63194600	Weak transcription	HepG2	liver
44	chr1:63192200-63194800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr1:63192200-63198000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr1:63192800-63193800	Enhancers	Muscle Satellite Cultured Cells	--
47	chr1:63192800-63193800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr1:63193000-63193600	Enhancers	Colonic Mucosa	Colon
49	chr1:63193000-63193800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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