Variant report

Variant	rs73280080
Chromosome Location	chr12:42513593-42513594
allele	G/T
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:6)

rs_ID	r²[population]
rs57306602	1.00[AFR][1000 genomes]
rs73278290	1.00[AFR][1000 genomes]
rs73280034	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73280061	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281818	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs824728	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430505	chr12:42297931-42720773	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv983314	chr12:42511511-42513653	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42471800-42524400	Weak transcription	Esophagus	oesophagus
2	chr12:42474600-42514400	Weak transcription	Fetal Muscle Trunk	muscle
3	chr12:42474600-42518800	Weak transcription	Brain Anterior Caudate	brain
4	chr12:42476000-42524400	Weak transcription	Gastric	stomach
5	chr12:42476200-42524400	Weak transcription	Pancreas	Pancrea
6	chr12:42476600-42523800	Weak transcription	Hela-S3	cervix
7	chr12:42484400-42524800	Weak transcription	Right Ventricle	heart
8	chr12:42488600-42518600	Weak transcription	Fetal Brain Male	brain
9	chr12:42492200-42518600	Weak transcription	K562	blood
10	chr12:42493000-42524400	Weak transcription	Brain Substantia Nigra	brain
11	chr12:42493000-42534400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr12:42493200-42518400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr12:42493200-42519200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr12:42497200-42518800	Weak transcription	Psoas Muscle	Psoas
15	chr12:42499000-42516800	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr12:42499400-42518800	Weak transcription	Fetal Kidney	kidney
17	chr12:42501000-42518800	Weak transcription	Colon Smooth Muscle	Colon
18	chr12:42504800-42514600	Weak transcription	Spleen	Spleen
19	chr12:42505600-42516800	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr12:42505800-42515200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr12:42505800-42518400	Weak transcription	Fetal Intestine Small	intestine
22	chr12:42505800-42518800	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr12:42505800-42518800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr12:42505800-42518800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr12:42505800-42522400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr12:42505800-42537000	Weak transcription	Fetal Stomach	stomach
27	chr12:42505800-42537000	Weak transcription	Lung	lung
28	chr12:42507400-42515200	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr12:42508400-42524600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr12:42508800-42517000	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr12:42509600-42519400	Weak transcription	Fetal Muscle Leg	muscle
32	chr12:42509800-42513600	Weak transcription	Colonic Mucosa	Colon
33	chr12:42509800-42518600	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr12:42509800-42518800	Weak transcription	Brain Germinal Matrix	brain
35	chr12:42510000-42518800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr12:42510800-42514000	Weak transcription	Fetal Thymus	thymus
37	chr12:42511000-42518800	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr12:42511200-42519000	Weak transcription	Brain Cingulate Gyrus	brain
39	chr12:42511600-42513600	Enhancers	NHDF-Ad	bronchial
40	chr12:42511600-42518800	Weak transcription	NHEK	skin
41	chr12:42511800-42513600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr12:42511800-42513600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr12:42511800-42518600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr12:42511800-42518800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr12:42511800-42518800	Weak transcription	Brain Hippocampus Middle	brain
46	chr12:42511800-42518800	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr12:42512000-42519000	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr12:42512000-42522200	Weak transcription	HMEC	breast
49	chr12:42512000-42537400	Weak transcription	Ovary	ovary
50	chr12:42512200-42513600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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