Variant report

Variant	rs62422445
Chromosome Location	chr6:131508293-131508294
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs62422459	0.86[EUR][1000 genomes]
rs62424662	1.00[EUR][1000 genomes]
rs62424663	1.00[EUR][1000 genomes]
rs62424666	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032955	chr6:131298803-131818502	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv538443	chr6:131298803-131818502	Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv830807	chr6:131390952-131581931	Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv886664	chr6:131443843-131754930	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131457600-131520800	Weak transcription	Right Ventricle	heart
2	chr6:131458200-131513400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr6:131484400-131509200	Weak transcription	Rectal Smooth Muscle	rectum
4	chr6:131485400-131509600	Weak transcription	Small Intestine	intestine
5	chr6:131485600-131514000	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr6:131487000-131512800	Weak transcription	Brain Hippocampus Middle	brain
7	chr6:131488200-131534800	Weak transcription	Gastric	stomach
8	chr6:131489000-131513000	Weak transcription	Colon Smooth Muscle	Colon
9	chr6:131494800-131514000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr6:131504200-131514000	Weak transcription	Brain Germinal Matrix	brain
11	chr6:131504600-131512800	Weak transcription	Brain Angular Gyrus	brain
12	chr6:131505000-131508800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr6:131505000-131512000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr6:131505000-131518800	Weak transcription	Thymus	Thymus
15	chr6:131505000-131521000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr6:131505000-131521800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr6:131505200-131512800	Weak transcription	Aorta	Aorta
18	chr6:131505200-131513400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr6:131505200-131522600	Weak transcription	HSMMtube	muscle
20	chr6:131505800-131534600	Weak transcription	Brain Substantia Nigra	brain
21	chr6:131505800-131534800	Weak transcription	Pancreas	Pancrea
22	chr6:131506000-131515800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr6:131506200-131508400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr6:131506200-131512800	Weak transcription	Left Ventricle	heart
25	chr6:131506400-131508400	Weak transcription	Fetal Intestine Large	intestine
26	chr6:131506400-131510000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr6:131506400-131512600	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr6:131506400-131512800	Weak transcription	Brain Cingulate Gyrus	brain
29	chr6:131506400-131512800	Weak transcription	Placenta	Placenta
30	chr6:131506400-131512800	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr6:131506400-131520800	Weak transcription	Duodenum Mucosa	Duodenum
32	chr6:131506600-131512800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr6:131506600-131512800	Weak transcription	Esophagus	oesophagus
34	chr6:131506600-131512800	Weak transcription	Fetal Intestine Small	intestine
35	chr6:131506600-131512800	Weak transcription	Fetal Muscle Leg	muscle
36	chr6:131506600-131512800	Weak transcription	Fetal Stomach	stomach
37	chr6:131506600-131514200	Weak transcription	Stomach Smooth Muscle	stomach
38	chr6:131506600-131520600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr6:131506600-131520600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr6:131506600-131520600	Weak transcription	Spleen	Spleen
41	chr6:131506600-131520800	Weak transcription	Lung	lung
42	chr6:131506600-131523800	Weak transcription	HepG2	liver
43	chr6:131506600-131524000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr6:131506600-131529800	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr6:131506600-131532000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr6:131506800-131509000	Weak transcription	Primary hematopoietic stem cells	blood
47	chr6:131506800-131509800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr6:131506800-131510400	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr6:131506800-131512000	Weak transcription	Adipose Nuclei	Adipose
50	chr6:131506800-131512600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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