Variant report

Variant	rs74100320
Chromosome Location	chr12:67689309-67689310
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	STAT3	chr12:67689277-67689332	MCF10A-Er-Src	breast:	n/a	n/a
2	STAT3	chr12:67689242-67689330	MCF10A-Er-Src	breast:	n/a	n/a

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: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1680	1.00[EUR][1000 genomes]
rs28785562	0.94[EUR][1000 genomes]
rs55718199	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56009409	0.94[EUR][1000 genomes]
rs56044711	0.94[EUR][1000 genomes]
rs56256810	0.94[EUR][1000 genomes]
rs56956717	0.94[EUR][1000 genomes]
rs57682356	0.92[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs58181317	0.94[EUR][1000 genomes]
rs58398438	0.94[EUR][1000 genomes]
rs58559744	0.94[EUR][1000 genomes]
rs58577936	0.94[EUR][1000 genomes]
rs58982313	1.00[EUR][1000 genomes]
rs59402354	0.88[EUR][1000 genomes]
rs59826349	1.00[EUR][1000 genomes]
rs59842954	0.94[EUR][1000 genomes]
rs61237339	0.94[EUR][1000 genomes]
rs61371870	0.94[EUR][1000 genomes]
rs61539332	0.94[EUR][1000 genomes]
rs6581748	0.94[EUR][1000 genomes]
rs7134160	1.00[EUR][1000 genomes]
rs7300154	0.94[EUR][1000 genomes]
rs7301023	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7308079	1.00[EUR][1000 genomes]
rs7308322	0.94[EUR][1000 genomes]
rs7313387	0.94[EUR][1000 genomes]
rs73318892	0.94[EUR][1000 genomes]
rs73320730	0.94[EUR][1000 genomes]
rs73320788	0.94[EUR][1000 genomes]
rs73324517	0.94[EUR][1000 genomes]
rs73324577	0.94[EUR][1000 genomes]
rs74098702	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74100307	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs74100308	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74100321	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74100325	1.00[EUR][1000 genomes]
rs74100337	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7953592	0.94[EUR][1000 genomes]
rs7960660	0.94[EUR][1000 genomes]
rs7968351	0.94[EUR][1000 genomes]
rs7974384	0.94[EUR][1000 genomes]
rs7977176	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	chr12:67670400-67689600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr12:67671000-67689400	Weak transcription	NHLF	lung
10	chr12:67671400-67698400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr12:67671600-67691800	Weak transcription	Fetal Brain Male	brain
12	chr12:67672200-67699000	Weak transcription	Esophagus	oesophagus
13	chr12:67672400-67693800	Weak transcription	Psoas Muscle	Psoas
14	chr12:67673200-67699400	Weak transcription	Small Intestine	intestine
15	chr12:67674200-67694000	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr12:67674400-67696000	Weak transcription	Brain Hippocampus Middle	brain
17	chr12:67674600-67689800	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr12:67674600-67708000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr12:67674800-67697800	Strong transcription	Fetal Thymus	thymus
20	chr12:67674800-67706400	Weak transcription	Stomach Mucosa	stomach
21	chr12:67675600-67694600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr12:67676200-67691000	Weak transcription	HMEC	breast
23	chr12:67676800-67691800	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr12:67678600-67699000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr12:67679000-67692200	Weak transcription	Stomach Smooth Muscle	stomach
26	chr12:67679600-67692200	Weak transcription	Fetal Brain Female	brain
27	chr12:67680000-67696000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr12:67680600-67689800	Strong transcription	Fetal Intestine Large	intestine
29	chr12:67681000-67698200	Weak transcription	Brain Substantia Nigra	brain
30	chr12:67681000-67714200	Weak transcription	Spleen	Spleen
31	chr12:67681200-67699200	Weak transcription	Brain Cingulate Gyrus	brain
32	chr12:67681400-67689600	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr12:67682200-67699400	Weak transcription	Pancreas	Pancrea
34	chr12:67682200-67709000	Strong transcription	Dnd41	blood
35	chr12:67682200-67715200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr12:67682400-67707600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr12:67682600-67710600	Weak transcription	Right Ventricle	heart
38	chr12:67683400-67690400	Weak transcription	Left Ventricle	heart
39	chr12:67683400-67710600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr12:67683800-67690200	Strong transcription	HSMM	muscle
41	chr12:67684400-67708400	Strong transcription	GM12878-XiMat	blood
42	chr12:67684600-67692000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr12:67684800-67690200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr12:67684800-67691600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr12:67684800-67693800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr12:67684800-67698400	Weak transcription	Lung	lung
47	chr12:67684800-67698800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr12:67684800-67699000	Weak transcription	Gastric	stomach
49	chr12:67685000-67690400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr12:67685000-67691200	Weak transcription	Brain Anterior Caudate	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links