Variant report

Variant	rs12322901
Chromosome Location	chr12:67689895-67689896
allele	G/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	EP300	chr12:67689870-67690162	SK-N-SH_RA	brain:	n/a	chr12:67690021-67690030
2	FOS	chr12:67689858-67690144	MCF10A-Er-Src	breast:	n/a	chr12:67690020-67690029 chr12:67690020-67690030 chr12:67690020-67690030 chr12:67690020-67690030 chr12:67690020-67690030
3	FOS	chr12:67689856-67690143	MCF10A-Er-Src	breast:	n/a	chr12:67690020-67690029 chr12:67690020-67690030 chr12:67690020-67690030 chr12:67690020-67690030 chr12:67690020-67690030
4	FOS	chr12:67689842-67690151	MCF10A-Er-Src	breast:	n/a	chr12:67690020-67690029 chr12:67690020-67690030 chr12:67690020-67690030 chr12:67690020-67690030 chr12:67690020-67690030
5	EP300	chr12:67689826-67690115	SK-N-SH_RA	brain:	n/a	chr12:67690021-67690030

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:67687173..67689993-chr12:67691527..67694169,2	K562	blood:

Variant related genes	Relation type
CAND1	TF binding region
ENSG00000111530	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10128823	1.00[EUR][1000 genomes]
rs10129028	1.00[EUR][1000 genomes]
rs11176672	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11176676	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11176679	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11176684	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11176691	1.00[EUR][1000 genomes]
rs11176692	1.00[EUR][1000 genomes]
rs11176693	1.00[EUR][1000 genomes]
rs11176694	1.00[EUR][1000 genomes]
rs11176715	1.00[EUR][1000 genomes]
rs11176740	1.00[EUR][1000 genomes]
rs11503726	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12297966	1.00[EUR][1000 genomes]
rs12299042	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12299097	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12300582	1.00[EUR][1000 genomes]
rs12303089	1.00[EUR][1000 genomes]
rs12306375	1.00[EUR][1000 genomes]
rs12307363	1.00[EUR][1000 genomes]
rs12307464	1.00[EUR][1000 genomes]
rs12311491	1.00[EUR][1000 genomes]
rs12311797	1.00[EUR][1000 genomes]
rs12311840	1.00[EUR][1000 genomes]
rs12311845	1.00[EUR][1000 genomes]
rs12312040	1.00[EUR][1000 genomes]
rs12313282	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12314503	1.00[EUR][1000 genomes]
rs12315624	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12318518	1.00[EUR][1000 genomes]
rs12318591	1.00[EUR][1000 genomes]
rs12318995	1.00[EUR][1000 genomes]
rs12320566	1.00[EUR][1000 genomes]
rs12321396	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17103392	1.00[EUR][1000 genomes]
rs17103652	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17103772	1.00[EUR][1000 genomes]
rs17120707	1.00[EUR][1000 genomes]
rs17120710	1.00[EUR][1000 genomes]
rs4083304	1.00[EUR][1000 genomes]
rs57886620	1.00[EUR][1000 genomes]
rs61504642	1.00[EUR][1000 genomes]
rs6581751	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7135195	1.00[EUR][1000 genomes]
rs7294827	1.00[EUR][1000 genomes]
rs7306853	1.00[EUR][1000 genomes]
rs7307643	1.00[EUR][1000 genomes]
rs7312079	1.00[EUR][1000 genomes]
rs73320752	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73322616	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73326445	1.00[EUR][1000 genomes]
rs73326448	1.00[EUR][1000 genomes]
rs73326466	1.00[EUR][1000 genomes]
rs7954999	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7962872	1.00[EUR][1000 genomes]
rs7964763	1.00[EUR][1000 genomes]
rs7966031	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7977574	1.00[EUR][1000 genomes]
rs9989007	1.00[EUR][1000 genomes]
rs9989023	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	nsv541524	chr12:67311057-67700349	Strong transcription Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv559212	chr12:67373549-67850925	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1054111	chr12:67556780-67865542	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv525023	chr12:67672870-67708669	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67664800-67694400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:67664800-67699600	Weak transcription	Aorta	Aorta
3	chr12:67665200-67690200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr12:67665200-67699000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr12:67666000-67701000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr12:67670000-67699200	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr12:67670200-67698200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr12:67671400-67698400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr12:67671600-67691800	Weak transcription	Fetal Brain Male	brain
10	chr12:67672200-67699000	Weak transcription	Esophagus	oesophagus
11	chr12:67672400-67693800	Weak transcription	Psoas Muscle	Psoas
12	chr12:67673200-67699400	Weak transcription	Small Intestine	intestine
13	chr12:67674200-67694000	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr12:67674400-67696000	Weak transcription	Brain Hippocampus Middle	brain
15	chr12:67674600-67708000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr12:67674800-67697800	Strong transcription	Fetal Thymus	thymus
17	chr12:67674800-67706400	Weak transcription	Stomach Mucosa	stomach
18	chr12:67675600-67694600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr12:67676200-67691000	Weak transcription	HMEC	breast
20	chr12:67676800-67691800	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr12:67678600-67699000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr12:67679000-67692200	Weak transcription	Stomach Smooth Muscle	stomach
23	chr12:67679600-67692200	Weak transcription	Fetal Brain Female	brain
24	chr12:67680000-67696000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr12:67681000-67698200	Weak transcription	Brain Substantia Nigra	brain
26	chr12:67681000-67714200	Weak transcription	Spleen	Spleen
27	chr12:67681200-67699200	Weak transcription	Brain Cingulate Gyrus	brain
28	chr12:67682200-67699400	Weak transcription	Pancreas	Pancrea
29	chr12:67682200-67709000	Strong transcription	Dnd41	blood
30	chr12:67682200-67715200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr12:67682400-67707600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr12:67682600-67710600	Weak transcription	Right Ventricle	heart
33	chr12:67683400-67690400	Weak transcription	Left Ventricle	heart
34	chr12:67683400-67710600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr12:67683800-67690200	Strong transcription	HSMM	muscle
36	chr12:67684400-67708400	Strong transcription	GM12878-XiMat	blood
37	chr12:67684600-67692000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr12:67684800-67690200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr12:67684800-67691600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr12:67684800-67693800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr12:67684800-67698400	Weak transcription	Lung	lung
42	chr12:67684800-67698800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr12:67684800-67699000	Weak transcription	Gastric	stomach
44	chr12:67685000-67690400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr12:67685000-67691200	Weak transcription	Brain Anterior Caudate	brain
46	chr12:67685000-67691200	Weak transcription	HSMMtube	muscle
47	chr12:67685000-67691800	Weak transcription	Fetal Lung	lung
48	chr12:67685000-67698800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr12:67685200-67690800	Weak transcription	Hela-S3	cervix
50	chr12:67685200-67691600	Weak transcription	Skeletal Muscle Female	skeletal muscle

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