Variant report

Variant	rs11183272
Chromosome Location	chr12:46382256-46382257
allele	A/C
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:46381030..46386260-chr12:46762457..46768592,6	K562	blood:
2	chr12:46381426..46387093-chr12:46763754..46767064,8	MCF-7	breast:
3	chr12:46234148..46236211-chr12:46380444..46382756,2	MCF-7	breast:
4	chr12:46118140..46120758-chr12:46381990..46383957,2	MCF-7	breast:
5	chr12:46117578..46127110-chr12:46379884..46387671,22	K562	blood:
6	chr12:46119117..46128831-chr12:46378175..46388065,20	MCF-7	breast:
7	chr12:46382194..46387214-chr12:46392482..46398742,9	MCF-7	breast:
8	chr12:46381552..46382503-chr12:46595173..46595922,2	MCF-7	breast:
9	chr12:46381653..46384316-chr12:46658041..46660330,2	K562	blood:
10	chr12:46173636..46175276-chr12:46381483..46383526,2	K562	blood:
11	chr12:46381984..46384218-chr12:46387079..46389298,2	K562	blood:
12	chr12:46239104..46241621-chr12:46382025..46383579,2	K562	blood:
13	chr12:46119690..46125014-chr12:46381902..46386942,12	K562	blood:

No data

Variant related genes	Relation type
ENSG00000273015	Chromatin interaction
ENSG00000134294	Chromatin interaction
ENSG00000239397	Chromatin interaction
ENSG00000258096	Chromatin interaction
ENSG00000189079	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs1012642	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10161306	0.85[JPT][hapmap]
rs1062905	0.86[JPT][hapmap]
rs10748432	0.95[CEU][hapmap]
rs10785593	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10880871	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs10880873	0.86[JPT][hapmap]
rs10880874	0.86[JPT][hapmap]
rs10880875	1.00[CEU][hapmap];0.97[ASN][1000 genomes]
rs10880879	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10880880	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10880884	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10880887	0.81[ASN][1000 genomes]
rs11183208	0.81[JPT][hapmap]
rs11183210	0.84[JPT][hapmap]
rs11183226	0.85[JPT][hapmap]
rs11183229	0.85[JPT][hapmap]
rs11183234	0.85[JPT][hapmap]
rs11183241	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11183243	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs11183251	0.85[JPT][hapmap]
rs11183268	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11183273	0.85[JPT][hapmap]
rs11183275	0.88[JPT][hapmap]
rs11574964	0.82[JPT][hapmap]
rs12314770	0.92[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs1366024	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1427750	0.86[JPT][hapmap]
rs1650008	0.80[ASN][1000 genomes]
rs1863127	0.92[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs1896539	0.81[JPT][hapmap]
rs2059404	0.95[CEU][hapmap];0.94[CHB][hapmap];0.85[JPT][hapmap]
rs2408435	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs2408437	0.82[JPT][hapmap]
rs247917	0.83[ASN][1000 genomes]
rs247918	0.91[CEU][hapmap];0.88[CHB][hapmap];0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs247919	0.86[ASN][1000 genomes]
rs247920	0.93[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs247929	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs247930	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs35115	0.92[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs35117	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs35121	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs35122	0.92[CEU][hapmap];0.89[CHB][hapmap];0.89[JPT][hapmap];0.85[ASN][1000 genomes]
rs35125	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs4768099	0.81[JPT][hapmap]
rs6582574	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs7132422	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs724909	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7298703	0.97[ASN][1000 genomes]
rs7306229	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs7315731	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs735351	0.86[JPT][hapmap]
rs7966125	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7967208	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7970129	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7971993	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7976870	0.96[CEU][hapmap];0.82[ASN][1000 genomes]
rs997307	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832397	chr12:46265990-46453733	Strong transcription ZNF genes & repeats Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv983463	chr12:46377328-46403983	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46360600-46383000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr12:46361400-46383200	Weak transcription	Lung	lung
3	chr12:46362800-46383400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr12:46367400-46383200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:46370800-46382800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr12:46372400-46383000	Weak transcription	Brain Cingulate Gyrus	brain
7	chr12:46373000-46383400	Weak transcription	Esophagus	oesophagus
8	chr12:46373200-46382800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr12:46374200-46383000	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr12:46378400-46382800	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr12:46378400-46383000	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr12:46378600-46382400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
13	chr12:46378600-46382600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr12:46379000-46382400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr12:46379400-46383000	Enhancers	Primary B cells from peripheral blood	blood
16	chr12:46379600-46383000	Enhancers	Colon Smooth Muscle	Colon
17	chr12:46380000-46382600	Enhancers	Placenta Amnion	Placenta Amnion
18	chr12:46380000-46383400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
19	chr12:46380400-46383000	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr12:46380600-46382800	Enhancers	Rectal Smooth Muscle	rectum
21	chr12:46380600-46383000	Enhancers	Brain Anterior Caudate	brain
22	chr12:46380600-46383000	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr12:46380600-46383200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
24	chr12:46380600-46383600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr12:46380800-46382400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr12:46380800-46386400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr12:46381000-46382600	Enhancers	Stomach Mucosa	stomach
28	chr12:46381000-46382800	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr12:46381000-46382800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr12:46381000-46382800	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr12:46381000-46383000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr12:46381000-46383000	Flanking Active TSS	Fetal Heart	heart
33	chr12:46381000-46383000	Weak transcription	Fetal Muscle Trunk	muscle
34	chr12:46381000-46383200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr12:46381000-46383200	Weak transcription	Left Ventricle	heart
36	chr12:46381000-46383400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr12:46381000-46383400	Weak transcription	Gastric	stomach
38	chr12:46381200-46382400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr12:46381200-46382400	Enhancers	Primary T cells from cord blood	blood
40	chr12:46381200-46382400	Enhancers	Duodenum Mucosa	Duodenum
41	chr12:46381200-46382400	Enhancers	Rectal Mucosa Donor 29	rectum
42	chr12:46381200-46382600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr12:46381200-46382600	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr12:46381200-46382800	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr12:46381200-46382800	Enhancers	Fetal Intestine Small	intestine
46	chr12:46381200-46382800	Enhancers	Fetal Kidney	kidney
47	chr12:46381200-46382800	Enhancers	Fetal Stomach	stomach
48	chr12:46381200-46383000	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr12:46381200-46383000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr12:46381200-46383000	Enhancers	Brain Substantia Nigra	brain

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