Variant report

Variant	rs6663275
Chromosome Location	chr1:225933393-225933394
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10915857	1.00[EUR][1000 genomes]
rs1505566	1.00[EUR][1000 genomes]
rs1578523	1.00[EUR][1000 genomes]
rs2615059	1.00[EUR][1000 genomes]
rs57267938	1.00[EUR][1000 genomes]
rs6426082	1.00[EUR][1000 genomes]
rs6676277	1.00[EUR][1000 genomes]
rs74150521	1.00[EUR][1000 genomes]
rs7514958	1.00[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	nsv832736	chr1:225815717-225968619	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	esv1795046	chr1:225874059-226091150	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv1834932	chr1:225874059-226091150	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	esv1834948	chr1:225874059-226214882	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225915200-225933600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:225921400-225934400	Weak transcription	Esophagus	oesophagus
3	chr1:225925400-225938200	Weak transcription	Spleen	Spleen
4	chr1:225925600-225933800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr1:225925800-225934400	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr1:225925800-225934400	Weak transcription	HMEC	breast
7	chr1:225925800-225938000	Weak transcription	Lung	lung
8	chr1:225928200-225934400	Weak transcription	NHDF-Ad	bronchial
9	chr1:225932400-225934400	Enhancers	Colon Smooth Muscle	Colon
10	chr1:225932400-225934400	Enhancers	Fetal Muscle Leg	muscle
11	chr1:225932400-225934400	Enhancers	A549	lung
12	chr1:225932600-225933800	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr1:225932600-225933800	Enhancers	Right Ventricle	heart
14	chr1:225932600-225933800	Enhancers	HepG2	liver
15	chr1:225932600-225934400	Enhancers	Brain Germinal Matrix	brain
16	chr1:225932600-225934400	Enhancers	Rectal Smooth Muscle	rectum
17	chr1:225932600-225935800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr1:225932800-225933400	Enhancers	Fetal Lung	lung
19	chr1:225932800-225933400	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr1:225932800-225933600	Weak transcription	Left Ventricle	heart
21	chr1:225932800-225934200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:225932800-225934400	Enhancers	Duodenum Smooth Muscle	Duodenum
23	chr1:225932800-225934400	Weak transcription	Pancreas	Pancrea
24	chr1:225932800-225934400	Weak transcription	NHLF	lung
25	chr1:225932800-225938000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr1:225933000-225933600	Weak transcription	Brain Cingulate Gyrus	brain
27	chr1:225933000-225933800	Enhancers	Fetal Brain Female	brain
28	chr1:225933000-225934200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr1:225933000-225934200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr1:225933000-225934200	Enhancers	Adipose Nuclei	Adipose
31	chr1:225933000-225934200	Enhancers	Right Atrium	heart
32	chr1:225933000-225934200	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr1:225933000-225934200	Enhancers	NHEK	skin
34	chr1:225933000-225934400	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr1:225933000-225934400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr1:225933000-225934400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr1:225933000-225934400	Enhancers	Brain Hippocampus Middle	brain
38	chr1:225933000-225935400	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr1:225933000-225936000	Enhancers	Fetal Brain Male	brain
40	chr1:225933200-225933600	Enhancers	Stomach Smooth Muscle	stomach
41	chr1:225933200-225934400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr1:225933200-225934400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr1:225933200-225934400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr1:225933200-225934400	Enhancers	Fetal Muscle Trunk	muscle
45	chr1:225933200-225934400	Weak transcription	Hela-S3	cervix

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