Variant report

Variant	rs11063279
Chromosome Location	chr12:4760135-4760136
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	GATA3	chr12:4759954-4760238	SH-SY5Y	brain:	n/a	n/a
2	CEBPB	chr12:4759955-4760222	HepG2	liver:	n/a	chr12:4760126-4760137 chr12:4760126-4760139 chr12:4760127-4760138
3	CEBPB	chr12:4760017-4760288	K562	blood:	n/a	chr12:4760126-4760137 chr12:4760126-4760139 chr12:4760127-4760138

No.	Distal block	Cell Line	Cell type
1	chr12:4757018..4762059-chr12:4764285..4767290,6	K562	blood:
2	chr12:4751073..4755821-chr12:4757118..4761577,5	MCF-7	breast:
3	chr12:4754845..4760714-chr12:4761830..4765057,7	MCF-7	breast:
4	chr12:4757989..4759732-chr12:4759874..4761785,2	MCF-7	breast:
5	chr12:4758381..4761405-chr12:4778974..4782071,3	K562	blood:

Variant related genes	Relation type
AKAP3	TF binding region
NDUFA9	TF binding region
ENSG00000256381	Chromatin interaction
ENSG00000111254	Chromatin interaction
ENSG00000139180	Chromatin interaction
ENSG00000255639	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832318	chr12:4655799-4875837	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv898617	chr12:4715082-4768619	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv898618	chr12:4726068-4764137	Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv898619	chr12:4737715-4771456	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv898620	chr12:4745313-4771456	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv557125	chr12:4748410-4764137	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1036308	chr12:4748657-4804156	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv898621	chr12:4751798-4768193	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv898622	chr12:4751798-4768619	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv898623	chr12:4751798-4771456	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv898624	chr12:4757474-4769876	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv557126	chr12:4757809-4768619	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv898625	chr12:4759380-4771682	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4757200-4760200	Active TSS	Right Atrium	heart
2	chr12:4757600-4760200	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr12:4758800-4763400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr12:4759000-4760200	Enhancers	Primary B cells from peripheral blood	blood
5	chr12:4759000-4760200	Flanking Active TSS	Dnd41	blood
6	chr12:4759000-4763000	Weak transcription	Placenta	Placenta
7	chr12:4759000-4763400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr12:4759000-4763400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr12:4759000-4763400	Weak transcription	Spleen	Spleen
10	chr12:4759000-4764000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:4759000-4764000	Weak transcription	Lung	lung
12	chr12:4759000-4764200	Weak transcription	Esophagus	oesophagus
13	chr12:4759000-4764400	Weak transcription	Aorta	Aorta
14	chr12:4759000-4764400	Weak transcription	Pancreas	Pancrea
15	chr12:4759000-4772600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr12:4759000-4799400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr12:4759200-4760200	Enhancers	Fetal Intestine Large	intestine
18	chr12:4759200-4760400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr12:4759200-4763400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr12:4759200-4763400	Weak transcription	Fetal Muscle Trunk	muscle
21	chr12:4759200-4763400	Weak transcription	Ovary	ovary
22	chr12:4759200-4763400	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr12:4759200-4764000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr12:4759200-4764400	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr12:4759200-4776200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr12:4759400-4760200	Enhancers	Primary B cells from cord blood	blood
27	chr12:4759400-4760200	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr12:4759400-4760200	Enhancers	Fetal Intestine Small	intestine
29	chr12:4759400-4760800	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr12:4759400-4761200	Enhancers	Colon Smooth Muscle	Colon
31	chr12:4759400-4761400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr12:4759400-4762200	Enhancers	Liver	Liver
33	chr12:4759400-4762600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr12:4759400-4763400	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr12:4759400-4763400	Weak transcription	HSMMtube	muscle
36	chr12:4759400-4764800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr12:4759400-4767200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr12:4759600-4760200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr12:4759600-4760200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr12:4759600-4760200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
41	chr12:4759600-4760200	Enhancers	Muscle Satellite Cultured Cells	--
42	chr12:4759600-4760200	Enhancers	Brain Hippocampus Middle	brain
43	chr12:4759600-4760200	Enhancers	Pancreatic Islets	Pancreatic Islet
44	chr12:4759600-4760400	Enhancers	Primary T killer memory cells from peripheral blood	blood
45	chr12:4759600-4761400	Enhancers	Duodenum Smooth Muscle	Duodenum
46	chr12:4759600-4761800	Enhancers	HepG2	liver
47	chr12:4759600-4763000	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr12:4759600-4763400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr12:4759600-4763400	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr12:4759600-4763400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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