Variant report

Variant	rs10785630
Chromosome Location	chr12:46880380-46880381
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:46872950..46874891-chr12:46879914..46882700,2	K562	blood:
2	chr12:46765188..46768496-chr12:46877809..46880766,4	MCF-7	breast:
3	chr12:46764043..46767775-chr12:46879403..46882999,4	K562	blood:
4	chr12:46848932..46850742-chr12:46879031..46882024,2	MCF-7	breast:
5	chr12:46868625..46870317-chr12:46878196..46880801,2	MCF-7	breast:
6	chr12:46776146..46779343-chr12:46878535..46880853,3	MCF-7	breast:
7	chr12:46872950..46875847-chr12:46879914..46883290,3	K562	blood:
8	chr12:46765269..46767816-chr12:46880276..46882209,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000134294	Chromatin interaction
ENSG00000257261	Chromatin interaction
ENSG00000258096	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11183468	0.84[CEU][hapmap];0.90[JPT][hapmap]
rs11183527	0.84[CEU][hapmap]
rs2279559	0.84[CHD][hapmap];0.80[JPT][hapmap];0.82[MEX][hapmap]
rs4074773	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4076248	0.80[ASW][hapmap];0.84[CEU][hapmap];0.86[CHD][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.97[MKK][hapmap];0.82[YRI][hapmap]
rs4768735	0.82[GIH][hapmap]
rs6582656	0.84[CEU][hapmap]
rs7315480	0.84[CEU][hapmap]
rs7487075	0.83[CEU][hapmap]

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	esv1842882	chr12:46691487-47009428	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
2	nsv1049525	chr12:46721742-47264172	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
3	nsv541486	chr12:46721742-47264172	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
4	esv3429861	chr12:46762813-46988789	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	145 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46844600-46886000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:46868000-46881200	Weak transcription	GM12878-XiMat	blood
3	chr12:46868000-46883200	Weak transcription	Fetal Heart	heart
4	chr12:46868600-46883000	Weak transcription	Left Ventricle	heart
5	chr12:46868600-46883400	Weak transcription	Psoas Muscle	Psoas
6	chr12:46868600-46889200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr12:46868800-46883400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr12:46868800-46886000	Weak transcription	HSMMtube	muscle
9	chr12:46870400-46880400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr12:46871200-46887800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr12:46873000-46880400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr12:46873600-46886000	Weak transcription	HSMM	muscle
13	chr12:46874000-46880400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr12:46874800-46883400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr12:46876600-46880400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr12:46877600-46881200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr12:46877800-46883200	Weak transcription	NHEK	skin
18	chr12:46878000-46881000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr12:46878000-46883200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr12:46878000-46883400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr12:46878000-46883400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr12:46878000-46883400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr12:46878000-46885400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr12:46878000-46887400	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr12:46878200-46880400	Weak transcription	Placenta	Placenta
26	chr12:46878200-46881400	Weak transcription	Osteobl	bone
27	chr12:46878200-46882400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr12:46878200-46883000	Weak transcription	Ovary	ovary
29	chr12:46878200-46883000	Weak transcription	HMEC	breast
30	chr12:46878200-46883200	Weak transcription	NHLF	lung
31	chr12:46878200-46883400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr12:46878200-46883400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr12:46878200-46883400	Weak transcription	Liver	Liver
34	chr12:46878200-46883400	Weak transcription	Right Atrium	heart
35	chr12:46878200-46886600	Enhancers	HepG2	liver
36	chr12:46878200-46887000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr12:46878400-46883800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr12:46878600-46881200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr12:46878600-46886000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr12:46878800-46880800	Weak transcription	Primary hematopoietic stem cells	blood
41	chr12:46878800-46881200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr12:46879200-46880400	Enhancers	Primary B cells from cord blood	blood
43	chr12:46879200-46880400	Weak transcription	Hela-S3	cervix
44	chr12:46879200-46881000	Enhancers	Primary B cells from peripheral blood	blood
45	chr12:46879400-46882600	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr12:46879600-46880600	Enhancers	Primary neutrophils fromperipheralblood	blood
47	chr12:46879800-46882600	Enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr12:46880000-46883000	Weak transcription	A549	lung
49	chr12:46880000-46886000	Weak transcription	Right Ventricle	heart
50	chr12:46880200-46882000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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