Variant report

Variant	rs9485191
Chromosome Location	chr6:147831282-147831283
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:147830521..147832164-chr6:147833225..147837282,3	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12234160	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9377052	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9377053	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9377055	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9390470	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9390471	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9390472	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9399604	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9403858	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9485188	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9485189	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9485190	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9485192	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9485194	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9497792	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3336787	chr6:147829109-147831307	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:147827800-147831800	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr6:147827800-147834000	Active TSS	Breast Myoepithelial Primary Cells	Breast
3	chr6:147828400-147832400	Active TSS	Fetal Kidney	kidney
4	chr6:147828600-147831600	Active TSS	HSMM	muscle
5	chr6:147828600-147832000	Active TSS	Fetal Intestine Large	intestine
6	chr6:147828600-147832000	Active TSS	Rectal Mucosa Donor 31	rectum
7	chr6:147828600-147832200	Active TSS	HSMMtube	muscle
8	chr6:147828800-147831400	Active TSS	Duodenum Mucosa	Duodenum
9	chr6:147828800-147831400	Active TSS	Rectal Smooth Muscle	rectum
10	chr6:147828800-147831600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr6:147828800-147831600	Active TSS	Lung	lung
12	chr6:147828800-147831800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
13	chr6:147828800-147832200	Active TSS	Muscle Satellite Cultured Cells	--
14	chr6:147828800-147832200	Active TSS	Brain Inferior Temporal Lobe	brain
15	chr6:147828800-147832400	Active TSS	Fetal Intestine Small	intestine
16	chr6:147828800-147832600	Active TSS	Brain Anterior Caudate	brain
17	chr6:147829400-147832400	Bivalent/Poised TSS	Fetal Brain Female	brain
18	chr6:147829600-147831600	Active TSS	Colonic Mucosa	Colon
19	chr6:147830000-147831400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr6:147830000-147831600	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr6:147830000-147831800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr6:147830200-147831400	Active TSS	Stomach Smooth Muscle	stomach
23	chr6:147830400-147831600	Flanking Active TSS	Ovary	ovary
24	chr6:147830400-147832000	Flanking Active TSS	HUVEC	blood vessel
25	chr6:147830600-147831400	Bivalent/Poised TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr6:147830600-147831400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr6:147830600-147831400	Active TSS	Right Ventricle	heart
28	chr6:147830600-147831400	Bivalent/Poised TSS	NHLF	lung
29	chr6:147830600-147832600	Bivalent Enhancer	HepG2	liver
30	chr6:147830800-147831400	Active TSS	Gastric	stomach
31	chr6:147830800-147831400	Active TSS	A549	lung
32	chr6:147830800-147831600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr6:147830800-147831600	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
34	chr6:147830800-147831800	Active TSS	Fetal Stomach	stomach
35	chr6:147830800-147832200	Bivalent/Poised TSS	Placenta	Placenta
36	chr6:147831000-147831400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
37	chr6:147831000-147831400	Bivalent/Poised TSS	Brain Germinal Matrix	brain
38	chr6:147831000-147831600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr6:147831000-147832200	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr6:147831000-147832600	Flanking Active TSS	Liver	Liver
41	chr6:147831000-147832600	Flanking Active TSS	Fetal Lung	lung
42	chr6:147831000-147832600	Active TSS	Rectal Mucosa Donor 29	rectum
43	chr6:147831200-147831400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr6:147831200-147831400	Active TSS	Brain Cingulate Gyrus	brain
45	chr6:147831200-147831400	Active TSS	Brain Hippocampus Middle	brain
46	chr6:147831200-147831400	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
47	chr6:147831200-147831400	Enhancers	Esophagus	oesophagus
48	chr6:147831200-147831400	Enhancers	Left Ventricle	heart
49	chr6:147831200-147831600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr6:147831200-147831600	Bivalent Enhancer	Fetal Muscle Leg	muscle

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