Variant report

Variant	rs12208234
Chromosome Location	chr6:33590009-33590010
allele	A/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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:33546546..33549178-chr6:33588334..33590241,2	K562	blood:
2	chr6:33588748..33590902-chr6:33677628..33680104,3	K562	blood:
3	chr6:33588748..33590595-chr6:33677611..33680104,2	K562	blood:
4	chr6:33589679..33592438-chr6:33605298..33608151,2	MCF-7	breast:
5	chr17:56736454..56738602-chr6:33589465..33592275,2	MCF-7	breast:
6	chr6:33587172..33590152-chr6:34203876..34205466,2	K562	blood:
7	chr6:33586212..33588848-chr6:33589323..33592935,3	K562	blood:
8	chr17:44270863..44271390-chr6:33589321..33590284,2	Hela-S3	cervix:
9	chr12:53297626..53300477-chr6:33588925..33590822,2	MCF-7	breast:
10	chr6:33550022..33555745-chr6:33586647..33590467,5	MCF-7	breast:
11	chr6:33561576..33563352-chr6:33589353..33591952,2	K562	blood:
12	chr6:33551460..33554975-chr6:33588078..33592105,4	K562	blood:
13	chr6:33589305..33592124-chr6:33949466..33952412,2	MCF-7	breast:
14	chr6:33382580..33384156-chr6:33587956..33590051,2	K562	blood:
15	chr6:33587667..33592228-chr6:33677016..33679936,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000214401	Chromatin interaction
ENSG00000137309	Chromatin interaction
ENSG00000202077	Chromatin interaction
ENSG00000137288	Chromatin interaction
ENSG00000120071	Chromatin interaction
ENSG00000096433	Chromatin interaction
ENSG00000112511	Chromatin interaction
ENSG00000170421	Chromatin interaction
ENSG00000204188	Chromatin interaction
ENSG00000030110	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12197724	1.00[AFR][1000 genomes]
rs71565397	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	nsv885770	chr6:33543409-33614127	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv830638	chr6:33551202-33711346	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases
3	nsv5250	chr6:33565017-33598370	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	24 gene(s)	inside rSNPs	diseases
4	esv1817557	chr6:33584788-33614127	Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	esv1813933	chr6:33587443-33614127	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
6	esv3321796	chr6:33587999-33590547	Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33587600-33590200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr6:33587800-33590400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
3	chr6:33587800-33590400	Active TSS	H9 Cell Line	embryonic stem cell
4	chr6:33587800-33590400	Active TSS	NH-A	brain
5	chr6:33587800-33590600	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr6:33588000-33590200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr6:33588000-33590200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr6:33588000-33590200	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr6:33588000-33590200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr6:33588000-33590200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr6:33588000-33590200	Active TSS	Duodenum Mucosa	Duodenum
12	chr6:33588000-33590200	Active TSS	Esophagus	oesophagus
13	chr6:33588000-33590200	Active TSS	A549	lung
14	chr6:33588000-33590200	Active TSS	Hela-S3	cervix
15	chr6:33588000-33590400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
16	chr6:33588000-33590400	Active TSS	Gastric	stomach
17	chr6:33588000-33590400	Active TSS	Left Ventricle	heart
18	chr6:33588000-33590400	Active TSS	Sigmoid Colon	Sigmoid Colon
19	chr6:33588000-33590400	Active TSS	Small Intestine	intestine
20	chr6:33588000-33590400	Active TSS	NHLF	lung
21	chr6:33588000-33590600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr6:33588000-33590600	Active TSS	Lung	lung
23	chr6:33588200-33590200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr6:33588200-33590200	Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr6:33588200-33590200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
26	chr6:33588200-33590200	Active TSS	HMEC	breast
27	chr6:33588200-33590200	Active TSS	NHEK	skin
28	chr6:33588200-33590400	Active TSS	Stomach Mucosa	stomach
29	chr6:33588200-33590800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr6:33588400-33590200	Active TSS	HUES48 Cell Line	embryonic stem cell
31	chr6:33588600-33590400	Active TSS	HSMMtube	muscle
32	chr6:33589000-33590200	Active TSS	Rectal Mucosa Donor 31	rectum
33	chr6:33589200-33590200	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr6:33589200-33590200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr6:33589200-33590200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
36	chr6:33589200-33590200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
37	chr6:33589200-33590200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
38	chr6:33589200-33590400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
39	chr6:33589200-33590400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
40	chr6:33589200-33591000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr6:33589400-33590200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
42	chr6:33589400-33590200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr6:33589400-33590200	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
44	chr6:33589400-33590400	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
45	chr6:33589400-33590800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
46	chr6:33589400-33590800	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
47	chr6:33589400-33590800	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
48	chr6:33589400-33591000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr6:33589600-33590200	Bivalent Enhancer	Brain Germinal Matrix	brain
50	chr6:33589600-33590200	Flanking Active TSS	Osteobl	bone

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