Variant report

Variant	rs62430690
Chromosome Location	chr6:143141800-143141801
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	chr6:143139378..143142104-chr6:143146552..143148594,2	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12214216	1.00[ASN][1000 genomes]
rs62430703	1.00[ASN][1000 genomes]
rs6900521	1.00[ASN][1000 genomes]
rs72984377	1.00[ASN][1000 genomes]
rs72995085	1.00[ASN][1000 genomes]
rs802618	1.00[ASN][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	nsv830829	chr6:143058408-143218077	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv1019558	chr6:143121577-143154554	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:129 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:143123400-143144000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:143133000-143142800	Weak transcription	Lung	lung
3	chr6:143133200-143142400	Weak transcription	Spleen	Spleen
4	chr6:143133400-143145600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr6:143138200-143142400	Weak transcription	Pancreas	Pancrea
6	chr6:143139400-143143400	Enhancers	HepG2	liver
7	chr6:143139600-143143400	Enhancers	Small Intestine	intestine
8	chr6:143139800-143142800	Weak transcription	Esophagus	oesophagus
9	chr6:143140400-143152000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr6:143140600-143141800	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr6:143140600-143141800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr6:143140600-143141800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr6:143140600-143141800	Flanking Active TSS	Primary B cells from cord blood	blood
14	chr6:143140600-143141800	Flanking Active TSS	Primary hematopoietic stem cells	blood
15	chr6:143140600-143141800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
16	chr6:143140600-143141800	Active TSS	Colon Smooth Muscle	Colon
17	chr6:143140600-143141800	Active TSS	Right Atrium	heart
18	chr6:143140600-143142000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
19	chr6:143140600-143142000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
20	chr6:143140600-143142000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr6:143140600-143142000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
22	chr6:143140600-143142000	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr6:143140600-143142000	Flanking Active TSS	Dnd41	blood
24	chr6:143140600-143142000	Flanking Active TSS	HUVEC	blood vessel
25	chr6:143140800-143141800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr6:143140800-143141800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr6:143140800-143141800	Active TSS	Aorta	Aorta
28	chr6:143140800-143141800	Flanking Active TSS	Liver	Liver
29	chr6:143140800-143141800	Flanking Active TSS	NHEK	skin
30	chr6:143140800-143142000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
31	chr6:143140800-143142000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
32	chr6:143140800-143142000	Flanking Active TSS	Brain Anterior Caudate	brain
33	chr6:143140800-143143400	Enhancers	Fetal Heart	heart
34	chr6:143140800-143152000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr6:143141000-143141800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr6:143141000-143142000	Flanking Active TSS	Psoas Muscle	Psoas
37	chr6:143141200-143141800	Flanking Active TSS	NHDF-Ad	bronchial
38	chr6:143141200-143142000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
39	chr6:143141200-143142000	Flanking Active TSS	GM12878-XiMat	blood
40	chr6:143141200-143142200	Enhancers	A549	lung
41	chr6:143141200-143143000	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr6:143141200-143143400	Enhancers	Fetal Intestine Small	intestine
43	chr6:143141200-143143800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr6:143141200-143144000	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr6:143141200-143144000	Weak transcription	Placenta	Placenta
46	chr6:143141200-143145600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr6:143141400-143141800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr6:143141400-143141800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
49	chr6:143141400-143141800	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr6:143141400-143142000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood

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