Variant report

Variant	rs12090873
Chromosome Location	chr1:119698184-119698185
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs2799756	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3494191	chr1:118772550-119719548	Enhancers Strong transcription Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	esv3494192	chr1:118772550-119719548	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv932014	chr1:119476480-120471049	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
4	nsv831192	chr1:119671172-119843226	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
5	nsv917091	chr1:119688975-120023222	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:119683600-119700000	Weak transcription	Lung	lung
2	chr1:119683800-119699600	Weak transcription	Aorta	Aorta
3	chr1:119684000-119699400	Weak transcription	Gastric	stomach
4	chr1:119684000-119699400	Weak transcription	Ovary	ovary
5	chr1:119684000-119699600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:119684000-119699600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr1:119684000-119699600	Weak transcription	Placenta	Placenta
8	chr1:119684000-119700000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr1:119684000-119700000	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr1:119684200-119698600	Weak transcription	Fetal Stomach	stomach
11	chr1:119684200-119699200	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr1:119684200-119699200	Weak transcription	Brain Angular Gyrus	brain
13	chr1:119684200-119699400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:119684200-119699400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr1:119684200-119699400	Weak transcription	Liver	Liver
16	chr1:119684200-119699400	Weak transcription	Brain Germinal Matrix	brain
17	chr1:119684200-119699600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr1:119684200-119699600	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr1:119684200-119700000	Weak transcription	Psoas Muscle	Psoas
20	chr1:119684200-119700200	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr1:119684200-119700200	Weak transcription	Stomach Smooth Muscle	stomach
22	chr1:119684200-119701600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr1:119684200-119701600	Weak transcription	HSMM	muscle
24	chr1:119684200-119705200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr1:119684400-119700000	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr1:119684400-119700200	Weak transcription	Brain Hippocampus Middle	brain
27	chr1:119684400-119703600	Weak transcription	HUVEC	blood vessel
28	chr1:119684400-119724800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr1:119684600-119699200	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr1:119684600-119699400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr1:119684600-119699600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr1:119684600-119700200	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr1:119684800-119699200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr1:119684800-119699400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr1:119684800-119699400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr1:119684800-119699600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr1:119684800-119700000	Weak transcription	HMEC	breast
38	chr1:119684800-119700200	Weak transcription	Fetal Kidney	kidney
39	chr1:119684800-119700200	Weak transcription	GM12878-XiMat	blood
40	chr1:119684800-119700400	Weak transcription	Fetal Heart	heart
41	chr1:119684800-119701400	Weak transcription	Fetal Brain Female	brain
42	chr1:119684800-119701800	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr1:119684800-119705400	Weak transcription	Colonic Mucosa	Colon
44	chr1:119684800-119707400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr1:119685000-119699400	Weak transcription	Fetal Lung	lung
46	chr1:119685000-119699600	Weak transcription	Brain Anterior Caudate	brain
47	chr1:119685000-119732400	Weak transcription	NHEK	skin
48	chr1:119685200-119699200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr1:119685200-119699200	Weak transcription	Duodenum Mucosa	Duodenum
50	chr1:119685200-119699600	Weak transcription	Brain Substantia Nigra	brain

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