Variant report

Variant	rs10771896
Chromosome Location	chr12:32139842-32139843
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:32133625-32140479	K562	blood:	n/a	n/a
2	POLR2A	chr12:32133922-32140576	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
KIAA1551	TF binding region

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10771893	0.90[CHB][hapmap];0.87[JPT][hapmap];0.83[ASN][1000 genomes]
rs10771898	0.82[ASN][1000 genomes]
rs10844072	0.85[CHB][hapmap];0.87[JPT][hapmap]
rs10844078	0.85[CHB][hapmap];0.87[JPT][hapmap];0.85[ASN][1000 genomes]
rs10844079	0.85[ASN][1000 genomes]
rs10844080	0.85[ASN][1000 genomes]
rs10844082	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10844084	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10844085	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11051701	0.82[ASN][1000 genomes]
rs11051704	0.89[CHB][hapmap];0.87[JPT][hapmap];0.87[ASN][1000 genomes]
rs11051706	0.85[CHB][hapmap];0.87[JPT][hapmap];0.86[ASN][1000 genomes]
rs11051711	0.84[ASN][1000 genomes]
rs11051720	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16919127	0.80[YRI][hapmap]
rs3213955	0.90[CHB][hapmap];0.85[CHD][hapmap];0.89[GIH][hapmap];0.87[JPT][hapmap];0.92[ASN][1000 genomes]
rs3213957	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34358949	0.84[ASN][1000 genomes]
rs34922084	0.84[ASN][1000 genomes]
rs35533133	0.92[ASN][1000 genomes]
rs35771026	0.91[ASN][1000 genomes]
rs3759299	1.00[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3759300	0.85[CHD][hapmap];0.89[GIH][hapmap];0.87[JPT][hapmap];0.89[ASN][1000 genomes]
rs7307638	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043010	chr12:31798446-32143151	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv541446	chr12:31798446-32143151	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv558100	chr12:31866833-32185924	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1045464	chr12:31869888-32183792	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised 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	37 gene(s)	inside rSNPs	diseases
5	nsv541447	chr12:31869888-32183792	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	esv3363806	chr12:31872264-32410283	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers 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	41 gene(s)	inside rSNPs	diseases
7	esv3508621	chr12:31872654-32410593	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
8	esv3508622	chr12:31872654-32410593	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32114000-32150800	Weak transcription	NHLF	lung
2	chr12:32116000-32141800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
3	chr12:32116400-32143200	ZNF genes & repeats	GM12878-XiMat	blood
4	chr12:32120600-32141600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr12:32120800-32140400	ZNF genes & repeats	Primary T cells from cord blood	blood
6	chr12:32121800-32141600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
7	chr12:32123200-32143800	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
8	chr12:32123400-32143200	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
9	chr12:32123800-32143200	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
10	chr12:32124600-32140000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
11	chr12:32128800-32150600	Weak transcription	Hela-S3	cervix
12	chr12:32130400-32150200	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr12:32132800-32147200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr12:32133600-32142000	ZNF genes & repeats	Brain Germinal Matrix	brain
15	chr12:32134800-32142400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr12:32134800-32149400	Weak transcription	Esophagus	oesophagus
17	chr12:32134800-32149800	Weak transcription	Pancreas	Pancrea
18	chr12:32134800-32151000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr12:32134800-32155400	Weak transcription	NHDF-Ad	bronchial
20	chr12:32135000-32141600	Weak transcription	Lung	lung
21	chr12:32135000-32142400	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr12:32135000-32143000	Weak transcription	Spleen	Spleen
23	chr12:32135000-32147800	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr12:32135000-32148600	Weak transcription	Brain Hippocampus Middle	brain
25	chr12:32135000-32149200	Weak transcription	Brain Substantia Nigra	brain
26	chr12:32135000-32149800	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr12:32135000-32149800	Weak transcription	Colon Smooth Muscle	Colon
28	chr12:32135000-32150000	Weak transcription	Right Ventricle	heart
29	chr12:32135000-32150200	Weak transcription	Rectal Smooth Muscle	rectum
30	chr12:32135000-32150800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr12:32135000-32156000	Weak transcription	Brain Cingulate Gyrus	brain
32	chr12:32135000-32156400	Weak transcription	Gastric	stomach
33	chr12:32135200-32141400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr12:32135200-32148200	Weak transcription	Brain Angular Gyrus	brain
35	chr12:32135400-32141400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr12:32135400-32142400	Weak transcription	NHEK	skin
37	chr12:32135600-32140800	Weak transcription	Fetal Stomach	stomach
38	chr12:32135600-32148800	Weak transcription	Stomach Smooth Muscle	stomach
39	chr12:32135800-32142800	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr12:32136000-32142400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr12:32136000-32142600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr12:32136000-32142800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr12:32136000-32150000	Weak transcription	Aorta	Aorta
44	chr12:32136000-32150600	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr12:32136000-32155000	Weak transcription	HSMMtube	muscle
46	chr12:32136200-32144200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr12:32136200-32150600	Weak transcription	Psoas Muscle	Psoas
48	chr12:32136200-32155400	Weak transcription	Osteobl	bone
49	chr12:32136400-32141000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr12:32136400-32143600	Strong transcription	Dnd41	blood

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