Variant report

Variant	rs60472634
Chromosome Location	chr8:38922114-38922115
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:38920268..38922257-chr8:38925771..38928354,3	K562	blood:
2	chr8:38915849..38919016-chr8:38921261..38923485,4	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs73602736	1.00[AFR][1000 genomes]
rs73602747	0.91[AFR][1000 genomes]
rs73602781	0.81[AFR][1000 genomes]
rs73604714	0.82[AFR][1000 genomes]
rs73604718	0.82[AFR][1000 genomes]
rs73604721	0.82[AFR][1000 genomes]
rs73604728	0.82[AFR][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	esv3445313	chr8:38886844-38936643	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
2	esv3325011	chr8:38899844-38936643	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:38896000-38925000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr8:38897400-38963400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr8:38900600-38925600	Weak transcription	Small Intestine	intestine
4	chr8:38902400-38947600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr8:38905000-38960000	Weak transcription	HSMMtube	muscle
6	chr8:38906000-38922600	Strong transcription	HSMM	muscle
7	chr8:38909000-38922800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr8:38910200-38922800	Strong transcription	A549	lung
9	chr8:38911000-38923600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr8:38911200-38922600	Strong transcription	Dnd41	blood
11	chr8:38911200-38923400	Strong transcription	Osteobl	bone
12	chr8:38911400-38923600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr8:38911600-38930000	Weak transcription	Pancreas	Pancrea
14	chr8:38911600-38933200	Weak transcription	Colon Smooth Muscle	Colon
15	chr8:38911600-38947800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr8:38911800-38923000	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr8:38911800-38923600	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr8:38911800-38923600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr8:38911800-38949000	Weak transcription	Brain Substantia Nigra	brain
20	chr8:38911800-38964800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr8:38912000-38949000	Weak transcription	Brain Angular Gyrus	brain
22	chr8:38912400-38922600	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr8:38912800-38923600	Strong transcription	Cortex derived primary cultured neurospheres	brain
24	chr8:38912800-38923600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr8:38913200-38922800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr8:38913400-38923600	Strong transcription	Fetal Lung	lung
27	chr8:38913800-38922600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr8:38914000-38929400	Weak transcription	Liver	Liver
29	chr8:38914200-38934000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr8:38914400-38964800	Weak transcription	Fetal Kidney	kidney
31	chr8:38914600-38935000	Weak transcription	Brain Anterior Caudate	brain
32	chr8:38914800-38964800	Weak transcription	Colonic Mucosa	Colon
33	chr8:38915000-38922600	Strong transcription	Fetal Muscle Trunk	muscle
34	chr8:38915200-38940000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr8:38915400-38922600	Strong transcription	GM12878-XiMat	blood
36	chr8:38916600-38922600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr8:38916600-38923600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr8:38917000-38922400	Strong transcription	HUVEC	blood vessel
39	chr8:38917200-38923200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr8:38917400-38922800	Strong transcription	NH-A	brain
41	chr8:38917400-38923000	Strong transcription	Muscle Satellite Cultured Cells	--
42	chr8:38917400-38929200	Weak transcription	Hela-S3	cervix
43	chr8:38917400-38929800	Weak transcription	Psoas Muscle	Psoas
44	chr8:38917400-38929800	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr8:38917600-38944400	Weak transcription	Esophagus	oesophagus
46	chr8:38917600-38949000	Weak transcription	Spleen	Spleen
47	chr8:38918000-38962600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr8:38918600-38922200	Strong transcription	HMEC	breast
49	chr8:38918600-38923600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr8:38918800-38928800	Weak transcription	Sigmoid Colon	Sigmoid Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links