Variant report

Variant	rs891781
Chromosome Location	chr12:121618438-121618439
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:121613752..121616874-chr12:121617390..121620030,3	K562	blood:
2	chr12:121617441..121619988-chr12:121622773..121626244,3	K562	blood:

Variant related genes	Relation type
ENSG00000261827	Chromatin interaction

Extended variants
information (count: 84 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs11065468	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065469	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065470	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065471	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12297280	0.88[CHB][hapmap]
rs12310654	0.88[CHB][hapmap]
rs12312695	0.88[CHB][hapmap]
rs12312758	0.88[CHB][hapmap]
rs12314721	0.88[CHB][hapmap]
rs12830607	0.86[CHB][hapmap]
rs1618709	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1619628	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1621388	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1626329	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1653598	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1653601	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1653602	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1653603	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1653605	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1653610	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1653611	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1653612	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1653614	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1653616	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1653617	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1653618	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1718108	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1718119	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1718130	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1718131	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1718132	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1718133	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1718134	1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs1718135	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1718136	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1718137	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1718160	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1794892	0.88[CHB][hapmap]
rs1794899	0.88[CHB][hapmap]
rs1794900	0.88[CHB][hapmap]
rs1794902	0.88[CHB][hapmap]
rs1796412	0.86[CHB][hapmap]
rs1796416	0.88[CHB][hapmap]
rs1796421	0.88[CHB][hapmap]
rs208282	0.88[CHB][hapmap]
rs208298	1.00[CHB][hapmap];0.93[CHD][hapmap];0.93[JPT][hapmap]
rs208305	1.00[CHB][hapmap];0.93[CHD][hapmap];0.93[JPT][hapmap]
rs208306	1.00[CHB][hapmap];0.93[JPT][hapmap]
rs208307	1.00[CHB][hapmap];0.93[CHD][hapmap];0.93[JPT][hapmap]
rs208308	1.00[CHB][hapmap];0.93[JPT][hapmap]
rs208311	1.00[CHB][hapmap];0.92[JPT][hapmap]
rs2567986	0.86[AFR][1000 genomes]
rs2567988	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2567989	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2567991	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2567997	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2567999	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2568001	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2568002	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2568003	0.94[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs2686373	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2686374	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2686375	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2686378	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2686379	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2686380	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2686384	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2686385	0.98[ASN][1000 genomes]
rs2857591	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2857592	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2915641	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35734276	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs503720	0.89[CHB][hapmap];0.93[JPT][hapmap];0.81[ASN][1000 genomes]
rs504677	1.00[CHB][hapmap];0.92[CHD][hapmap];0.93[JPT][hapmap];0.86[MEX][hapmap];0.94[ASN][1000 genomes]
rs507085	0.89[CHB][hapmap];0.85[JPT][hapmap]
rs531095	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7137047	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9805004	0.88[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv560454	chr12:121457073-121745742	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1054878	chr12:121519880-121761800	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv455729	chr12:121525591-121761800	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv560455	chr12:121525591-121761800	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv1050519	chr12:121552964-121756420	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs891781	TMEM120B	cis	cerebellum	SCAN

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121571800-121623200	Weak transcription	Colonic Mucosa	Colon
2	chr12:121583000-121634600	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr12:121583800-121623600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr12:121583800-121634400	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr12:121584600-121626600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr12:121586200-121623600	Weak transcription	Rectal Smooth Muscle	rectum
7	chr12:121594200-121627600	Weak transcription	Right Ventricle	heart
8	chr12:121596200-121622200	Weak transcription	Esophagus	oesophagus
9	chr12:121596200-121625600	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr12:121596200-121629000	Weak transcription	Left Ventricle	heart
11	chr12:121596400-121634200	Weak transcription	Primary hematopoietic stem cells	blood
12	chr12:121597800-121625600	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr12:121602400-121634600	Weak transcription	Fetal Thymus	thymus
14	chr12:121603800-121623600	Weak transcription	Fetal Intestine Small	intestine
15	chr12:121604200-121619800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr12:121604400-121622200	Weak transcription	Lung	lung
17	chr12:121605000-121623400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr12:121610800-121628800	Weak transcription	Right Atrium	heart
19	chr12:121612600-121630200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr12:121613400-121619000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr12:121613800-121622000	Weak transcription	Fetal Brain Male	brain
22	chr12:121614000-121619000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr12:121614000-121623000	Weak transcription	Primary B cells from cord blood	blood
24	chr12:121614000-121634600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr12:121614200-121620600	Strong transcription	Brain Cingulate Gyrus	brain
26	chr12:121614200-121622200	Weak transcription	Pancreas	Pancrea
27	chr12:121614200-121624000	Weak transcription	Colon Smooth Muscle	Colon
28	chr12:121614200-121628800	Weak transcription	Adipose Nuclei	Adipose
29	chr12:121614400-121619800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr12:121614400-121620600	Strong transcription	Liver	Liver
31	chr12:121614800-121619800	Strong transcription	Brain Angular Gyrus	brain
32	chr12:121615000-121622600	Weak transcription	Gastric	stomach
33	chr12:121615200-121622000	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr12:121615400-121618600	Weak transcription	Brain Hippocampus Middle	brain
35	chr12:121615400-121618800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr12:121615400-121618800	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr12:121615400-121618800	Weak transcription	K562	blood
38	chr12:121615400-121620000	Weak transcription	Brain Anterior Caudate	brain
39	chr12:121615400-121622000	Weak transcription	Primary T cells from cord blood	blood
40	chr12:121615400-121622000	Weak transcription	Ovary	ovary
41	chr12:121615400-121622200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr12:121615400-121622200	Weak transcription	Spleen	Spleen
43	chr12:121615600-121618800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr12:121615600-121623200	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr12:121615800-121625400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr12:121616400-121618800	Weak transcription	Primary B cells from peripheral blood	blood
47	chr12:121616800-121620400	Strong transcription	Duodenum Smooth Muscle	Duodenum
48	chr12:121617000-121618800	Weak transcription	Stomach Smooth Muscle	stomach
49	chr12:121617200-121618800	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr12:121617600-121618800	Weak transcription	Brain Inferior Temporal Lobe	brain

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