Variant report

Variant	rs62395391
Chromosome Location	chr6:15429011-15429012
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:15428361..15431112-chr6:15432614..15434598,3	K562	blood:
2	chr6:15421478..15424119-chr6:15428105..15430007,2	MCF-7	breast:
3	chr6:15244038..15245589-chr6:15426739..15429228,2	K562	blood:
4	chr6:15412621..15415523-chr6:15427766..15430879,3	K562	blood:
5	chr6:15427691..15429702-chr6:15429913..15432106,2	K562	blood:
6	chr6:15427923..15429748-chr6:15438037..15440441,2	K562	blood:
7	chr6:15424906..15426863-chr6:15428621..15431301,2	MCF-7	breast:
8	chr6:15398995..15401396-chr6:15427661..15429486,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000008083	Chromatin interaction
ENSG00000271888	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11967624	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58139574	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62395398	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62395417	0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62395420	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv538140	chr6:15217899-15547127	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv1030558	chr6:15234675-15449137	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv538141	chr6:15234675-15509163	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv949448	chr6:15279490-15449441	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv1025512	chr6:15291551-15452395	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv538143	chr6:15291551-15452395	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:15414200-15429200	Weak transcription	HSMM	muscle
2	chr6:15417000-15452200	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr6:15421400-15432400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:15421600-15429600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr6:15421600-15430800	Weak transcription	Aorta	Aorta
6	chr6:15422400-15430200	Weak transcription	Fetal Muscle Trunk	muscle
7	chr6:15422800-15430800	Weak transcription	Gastric	stomach
8	chr6:15422800-15433400	Weak transcription	Colonic Mucosa	Colon
9	chr6:15423000-15429200	Weak transcription	Stomach Mucosa	stomach
10	chr6:15423600-15432600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr6:15423800-15429200	Weak transcription	Osteobl	bone
12	chr6:15424000-15429200	Weak transcription	HSMMtube	muscle
13	chr6:15424200-15429600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr6:15424200-15430800	Weak transcription	Esophagus	oesophagus
15	chr6:15424600-15442000	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr6:15425000-15430000	Enhancers	H1 Cell Line	embryonic stem cell
17	chr6:15425200-15429800	Enhancers	H9 Cell Line	embryonic stem cell
18	chr6:15425600-15429200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr6:15425600-15445400	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr6:15425800-15437800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr6:15426000-15430400	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr6:15426000-15432400	Enhancers	Brain Anterior Caudate	brain
23	chr6:15426000-15434000	Enhancers	Brain Cingulate Gyrus	brain
24	chr6:15426000-15435000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr6:15426000-15441000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr6:15426200-15429200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr6:15426400-15440400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr6:15426400-15442000	Enhancers	Primary B cells from peripheral blood	blood
29	chr6:15426600-15431600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr6:15426600-15434400	Enhancers	Fetal Lung	lung
31	chr6:15426800-15433000	Enhancers	Primary B cells from cord blood	blood
32	chr6:15426800-15434800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr6:15427000-15430000	Enhancers	Fetal Thymus	thymus
34	chr6:15427000-15433000	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr6:15427000-15450800	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr6:15427200-15429800	Enhancers	Left Ventricle	heart
37	chr6:15427400-15429200	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr6:15428000-15429200	Weak transcription	Fetal Intestine Large	intestine
39	chr6:15428000-15429200	Weak transcription	Right Ventricle	heart
40	chr6:15428000-15429200	Weak transcription	K562	blood
41	chr6:15428000-15429200	Weak transcription	NH-A	brain
42	chr6:15428000-15429200	Weak transcription	NHLF	lung
43	chr6:15428000-15429400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr6:15428000-15429400	Weak transcription	Ovary	ovary
45	chr6:15428000-15429600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr6:15428000-15429600	Weak transcription	Right Atrium	heart
47	chr6:15428000-15429800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr6:15428000-15430600	Weak transcription	Stomach Smooth Muscle	stomach
49	chr6:15428000-15430800	Weak transcription	Lung	lung
50	chr6:15428000-15430800	Weak transcription	Pancreas	Pancrea

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