Variant report

Variant	rs12305110
Chromosome Location	chr12:46298346-46298347
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10161001	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10161062	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10161510	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10880858	1.00[EUR][1000 genomes]
rs11183197	1.00[EUR][1000 genomes]
rs11183199	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11183202	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12296933	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12297214	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12301665	1.00[EUR][1000 genomes]
rs12302862	1.00[EUR][1000 genomes]
rs12309988	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12316361	0.85[AMR][1000 genomes]
rs12316726	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12321106	1.00[EUR][1000 genomes]
rs28583490	1.00[EUR][1000 genomes]
rs55916269	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56338250	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58253063	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58782185	1.00[EUR][1000 genomes]
rs59340060	1.00[EUR][1000 genomes]
rs6582575	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7132585	1.00[EUR][1000 genomes]
rs7133123	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7296694	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7303119	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7308856	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7308893	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7309921	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7315365	1.00[EUR][1000 genomes]
rs74081382	1.00[EUR][1000 genomes]
rs74081384	1.00[EUR][1000 genomes]
rs74081401	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74084208	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7953515	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7964495	1.00[EUR][1000 genomes]
rs7972650	1.00[EUR][1000 genomes]
rs7973967	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7975170	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7975408	1.00[AMR][1000 genomes];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	esv2758306	chr12:46149338-46349891	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	esv2759897	chr12:46149338-46349891	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv832396	chr12:46155424-46310583	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv832397	chr12:46265990-46453733	Strong transcription ZNF genes & repeats Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46245400-46318600	Weak transcription	Small Intestine	intestine
2	chr12:46259000-46316600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr12:46269000-46319200	Weak transcription	Spleen	Spleen
4	chr12:46269400-46316200	Weak transcription	Brain Angular Gyrus	brain
5	chr12:46269800-46315800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr12:46273400-46307600	Weak transcription	NHLF	lung
7	chr12:46273400-46310200	Weak transcription	Stomach Mucosa	stomach
8	chr12:46273400-46311200	Weak transcription	Right Ventricle	heart
9	chr12:46273400-46314400	Weak transcription	Brain Substantia Nigra	brain
10	chr12:46280200-46303400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:46280600-46300800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr12:46281400-46328800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr12:46286000-46321200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr12:46286200-46301600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr12:46286200-46307200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr12:46286200-46318000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr12:46286600-46316600	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr12:46286800-46300200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr12:46287200-46322000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr12:46288000-46298600	Weak transcription	HMEC	breast
21	chr12:46288200-46298800	Weak transcription	NH-A	brain
22	chr12:46288800-46305800	Weak transcription	Fetal Heart	heart
23	chr12:46289000-46315400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr12:46289200-46315400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr12:46289200-46316600	Weak transcription	K562	blood
26	chr12:46289400-46307600	Weak transcription	Osteobl	bone
27	chr12:46289400-46314600	Weak transcription	Hela-S3	cervix
28	chr12:46289600-46302800	Weak transcription	Colon Smooth Muscle	Colon
29	chr12:46290200-46298400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr12:46290200-46303000	Weak transcription	Rectal Smooth Muscle	rectum
31	chr12:46290200-46307400	Weak transcription	NHEK	skin
32	chr12:46290200-46307600	Weak transcription	NHDF-Ad	bronchial
33	chr12:46290200-46316200	Weak transcription	Brain Cingulate Gyrus	brain
34	chr12:46290200-46320400	Weak transcription	Fetal Brain Male	brain
35	chr12:46290200-46320600	Weak transcription	Psoas Muscle	Psoas
36	chr12:46290200-46322200	Weak transcription	Esophagus	oesophagus
37	chr12:46290400-46302800	Weak transcription	Stomach Smooth Muscle	stomach
38	chr12:46290400-46315800	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr12:46290400-46318000	Weak transcription	Brain Anterior Caudate	brain
40	chr12:46290400-46325800	Weak transcription	Aorta	Aorta
41	chr12:46290600-46299800	Weak transcription	HUVEC	blood vessel
42	chr12:46290600-46308800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr12:46290600-46313600	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr12:46290600-46315400	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr12:46290600-46316600	Weak transcription	Pancreas	Pancrea
46	chr12:46290600-46316600	Weak transcription	HepG2	liver
47	chr12:46290600-46316800	Weak transcription	Lung	lung
48	chr12:46290600-46318000	Weak transcription	Ovary	ovary
49	chr12:46291000-46298600	Weak transcription	Fetal Muscle Leg	muscle
50	chr12:46291000-46316400	Weak transcription	Sigmoid Colon	Sigmoid Colon

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