Variant report

Variant	rs508163
Chromosome Location	chr12:57785742-57785743
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs34109846	1.00[AMR][1000 genomes]
rs34423990	1.00[AMR][1000 genomes]
rs34548137	1.00[AMR][1000 genomes]
rs34740242	1.00[AMR][1000 genomes]
rs35103370	1.00[AMR][1000 genomes]
rs6581127	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046013	chr12:57714676-57895167	Active TSS Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
2	nsv541502	chr12:57714676-57895167	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
3	nsv516655	chr12:57763520-57811414	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57695200-57794600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr12:57704400-57789200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr12:57722800-57786200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr12:57731400-57789800	Weak transcription	Small Intestine	intestine
5	chr12:57731600-57796000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr12:57736400-57795000	Weak transcription	Right Ventricle	heart
7	chr12:57742400-57785800	Weak transcription	Fetal Brain Female	brain
8	chr12:57745000-57787800	Weak transcription	Placenta	Placenta
9	chr12:57753200-57823800	Weak transcription	Esophagus	oesophagus
10	chr12:57761200-57787400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr12:57761400-57789000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr12:57762800-57811800	Weak transcription	Pancreas	Pancrea
13	chr12:57763000-57796800	Weak transcription	Colonic Mucosa	Colon
14	chr12:57763000-57799200	Weak transcription	Psoas Muscle	Psoas
15	chr12:57763000-57800400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr12:57763400-57785800	Weak transcription	Dnd41	blood
17	chr12:57765200-57789200	Weak transcription	Rectal Smooth Muscle	rectum
18	chr12:57765600-57787000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr12:57766000-57787800	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr12:57766200-57795000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr12:57766200-57816000	Weak transcription	Fetal Lung	lung
22	chr12:57766600-57786200	Weak transcription	Stomach Smooth Muscle	stomach
23	chr12:57768600-57790800	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr12:57770800-57824000	Weak transcription	Gastric	stomach
25	chr12:57771200-57786600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr12:57774400-57819200	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr12:57777000-57789200	Weak transcription	Brain Hippocampus Middle	brain
28	chr12:57778800-57786000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr12:57779200-57790000	Strong transcription	Liver	Liver
30	chr12:57779400-57790000	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr12:57779600-57788400	Weak transcription	HepG2	liver
32	chr12:57780200-57788000	Weak transcription	GM12878-XiMat	blood
33	chr12:57780400-57786000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr12:57780400-57791400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr12:57780400-57795000	Weak transcription	Brain Substantia Nigra	brain
36	chr12:57780600-57788800	Weak transcription	Lung	lung
37	chr12:57780600-57789800	Strong transcription	Primary B cells from peripheral blood	blood
38	chr12:57780600-57795000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr12:57780800-57823200	Weak transcription	Spleen	Spleen
40	chr12:57781000-57785800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr12:57781200-57795000	Weak transcription	Aorta	Aorta
42	chr12:57781400-57789600	Strong transcription	Primary T cells fromperipheralblood	blood
43	chr12:57782000-57786400	Strong transcription	Fetal Muscle Trunk	muscle
44	chr12:57782400-57785800	Weak transcription	Fetal Thymus	thymus
45	chr12:57782600-57785800	Weak transcription	Left Ventricle	heart
46	chr12:57782600-57787800	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr12:57783000-57788000	Weak transcription	Ovary	ovary
48	chr12:57783000-57788000	Weak transcription	Thymus	Thymus
49	chr12:57783200-57785800	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr12:57783200-57787600	Weak transcription	Primary T cells from cord blood	blood

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