Variant report

Variant	rs10861600
Chromosome Location	chr12:106811160-106811161
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10778483	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10778484	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10861607	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10861615	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11112983	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11113012	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11113015	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11113016	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11113020	0.80[AMR][1000 genomes]
rs12231768	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13561	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1882413	0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2243506	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2245062	0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2246353	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2249162	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2249773	0.83[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2250262	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2250653	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs2252685	0.85[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2253054	0.85[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2254755	0.86[CHB][hapmap]
rs2288266	0.81[CHB][hapmap];0.84[JPT][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2288269	0.85[AMR][1000 genomes]
rs2374609	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34619628	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3851635	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3902141	0.80[AMR][1000 genomes]
rs7137444	0.80[CHB][hapmap]
rs7137638	0.85[CHB][hapmap]
rs741624	0.91[AFR][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	esv3435035	chr12:106765277-107015325	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv832510	chr12:106787730-106951140	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10861600	POLR3B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106753000-106811800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr12:106753000-106815400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr12:106764000-106821000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr12:106764400-106811800	Weak transcription	HUVEC	blood vessel
5	chr12:106773000-106828000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr12:106774400-106834000	Weak transcription	Small Intestine	intestine
7	chr12:106774600-106819000	Weak transcription	Right Ventricle	heart
8	chr12:106774800-106811800	Weak transcription	NHEK	skin
9	chr12:106776800-106821800	Weak transcription	Brain Angular Gyrus	brain
10	chr12:106779600-106821800	Weak transcription	Brain Substantia Nigra	brain
11	chr12:106783600-106818800	Weak transcription	Fetal Heart	heart
12	chr12:106787000-106830200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr12:106787600-106856600	Weak transcription	GM12878-XiMat	blood
14	chr12:106787800-106852400	Weak transcription	Gastric	stomach
15	chr12:106787800-106852800	Weak transcription	Pancreas	Pancrea
16	chr12:106788000-106827200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr12:106789000-106829800	Weak transcription	Brain Hippocampus Middle	brain
18	chr12:106789200-106811800	Weak transcription	Brain Cingulate Gyrus	brain
19	chr12:106789200-106821400	Weak transcription	Stomach Smooth Muscle	stomach
20	chr12:106789400-106812400	Weak transcription	Brain Anterior Caudate	brain
21	chr12:106789400-106819000	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr12:106789400-106821800	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr12:106790000-106819000	Weak transcription	Lung	lung
24	chr12:106790200-106811800	Weak transcription	HepG2	liver
25	chr12:106790400-106811800	Weak transcription	Adipose Nuclei	Adipose
26	chr12:106790400-106821000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr12:106791800-106811800	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr12:106791800-106817200	Weak transcription	Aorta	Aorta
29	chr12:106791800-106819000	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr12:106791800-106821200	Weak transcription	Duodenum Mucosa	Duodenum
31	chr12:106792000-106811800	Weak transcription	Ovary	ovary
32	chr12:106792000-106817200	Weak transcription	Esophagus	oesophagus
33	chr12:106792000-106819000	Weak transcription	Fetal Muscle Trunk	muscle
34	chr12:106792000-106821400	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr12:106792000-106827800	Weak transcription	Fetal Intestine Large	intestine
36	chr12:106800000-106828200	Weak transcription	K562	blood
37	chr12:106800200-106815800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr12:106800600-106811800	Weak transcription	Fetal Lung	lung
39	chr12:106802400-106854000	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr12:106803200-106811800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr12:106803200-106828400	Weak transcription	Fetal Thymus	thymus
42	chr12:106803600-106811200	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr12:106803600-106815000	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr12:106804000-106811400	Strong transcription	Liver	Liver
45	chr12:106804800-106832600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr12:106806200-106811800	Weak transcription	Brain Germinal Matrix	brain
47	chr12:106806400-106815800	Weak transcription	Primary hematopoietic stem cells	blood
48	chr12:106806400-106826800	Weak transcription	Spleen	Spleen
49	chr12:106806600-106812800	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr12:106807000-106812000	Weak transcription	HUES64 Cell Line	embryonic stem cell

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