Variant report

Variant	rs12366886
Chromosome Location	chr12:32684088-32684089
allele	A/G
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	chr12:32683948-32684130	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:32682843..32685838-chr12:32710494..32712764,2	K562	blood:

Variant related genes	Relation type
FGD4	TF binding region

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10506090	0.89[ASN][1000 genomes]
rs10506093	0.93[ASN][1000 genomes]
rs10771961	0.87[ASN][1000 genomes]
rs10844224	0.85[ASN][1000 genomes]
rs10844226	0.93[ASN][1000 genomes]
rs10844227	0.98[ASN][1000 genomes]
rs10844228	0.96[ASN][1000 genomes]
rs10844229	0.93[ASN][1000 genomes]
rs10844230	0.98[ASN][1000 genomes]
rs10844231	0.98[ASN][1000 genomes]
rs10844232	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10844234	0.98[ASN][1000 genomes]
rs11052040	1.00[ASN][1000 genomes]
rs11052041	0.98[ASN][1000 genomes]
rs11052042	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11052046	0.98[ASN][1000 genomes]
rs11052052	0.94[ASN][1000 genomes]
rs11052053	0.98[ASN][1000 genomes]
rs11052055	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11608343	0.91[ASN][1000 genomes]
rs12322132	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1500875	0.89[ASN][1000 genomes]
rs17536908	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2036266	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2133944	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4105685	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4520681	0.98[ASN][1000 genomes]
rs61928965	0.93[ASN][1000 genomes]
rs73092002	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73094103	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7953022	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7964715	0.98[ASN][1000 genomes]
rs7967306	0.89[ASN][1000 genomes]
rs7967702	0.98[ASN][1000 genomes]
rs7970857	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7974089	0.91[ASN][1000 genomes]
rs7977101	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7980571	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531960	chr12:32257285-32775277	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	esv2751096	chr12:32280340-32702784	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv1054191	chr12:32534619-32733066	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv541455	chr12:32534619-32733066	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	esv3342938	chr12:32551041-32716745	Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32655200-32686000	Weak transcription	Lung	lung
2	chr12:32656400-32685800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr12:32666600-32685200	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr12:32668200-32685800	Weak transcription	Gastric	stomach
5	chr12:32668400-32702600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr12:32668800-32686600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:32669800-32687000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr12:32671600-32686000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr12:32675800-32685400	Weak transcription	Fetal Brain Female	brain
10	chr12:32676000-32684600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr12:32676000-32685400	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr12:32676000-32686800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr12:32676200-32685400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr12:32676200-32685400	Weak transcription	HSMM	muscle
15	chr12:32676200-32685600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr12:32676200-32685800	Weak transcription	Aorta	Aorta
17	chr12:32676200-32685800	Weak transcription	Psoas Muscle	Psoas
18	chr12:32676200-32687000	Weak transcription	Left Ventricle	heart
19	chr12:32676200-32687000	Weak transcription	Right Ventricle	heart
20	chr12:32676200-32688000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr12:32676400-32684600	Weak transcription	Duodenum Mucosa	Duodenum
22	chr12:32676400-32685000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr12:32676400-32685400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr12:32676400-32686600	Weak transcription	Brain Substantia Nigra	brain
25	chr12:32676400-32686800	Weak transcription	Brain Cingulate Gyrus	brain
26	chr12:32676600-32684600	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr12:32676600-32685800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr12:32676600-32685800	Weak transcription	Right Atrium	heart
29	chr12:32676600-32686000	Weak transcription	Brain Anterior Caudate	brain
30	chr12:32676600-32686600	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr12:32676800-32685400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr12:32677000-32685400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr12:32677200-32685600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr12:32677200-32685800	Weak transcription	Primary B cells from peripheral blood	blood
35	chr12:32677200-32686200	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr12:32677800-32685800	Weak transcription	Ovary	ovary
37	chr12:32677800-32686000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr12:32678200-32685800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr12:32678400-32687000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr12:32678800-32686800	Weak transcription	HMEC	breast
41	chr12:32680400-32687000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr12:32681200-32685800	Weak transcription	Fetal Thymus	thymus
43	chr12:32681600-32688200	Weak transcription	Esophagus	oesophagus
44	chr12:32682400-32685600	Weak transcription	Fetal Intestine Small	intestine
45	chr12:32682400-32686400	Weak transcription	Fetal Muscle Trunk	muscle
46	chr12:32683200-32684800	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr12:32683200-32687000	Enhancers	Liver	Liver
48	chr12:32683200-32688600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr12:32683400-32685200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr12:32683400-32686600	Weak transcription	Adipose Nuclei	Adipose

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