Variant report

Variant	rs11182951
Chromosome Location	chr12:45651270-45651271
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:45646019..45648882-chr12:45651265..45654119,3	K562	blood:
2	chr12:45608273..45611402-chr12:45650771..45657484,8	MCF-7	breast:
3	chr12:45651078..45653122-chr12:45664303..45667103,2	MCF-7	breast:
4	chr12:45649985..45652143-chr12:45652461..45655864,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000177119	Chromatin interaction
ENSG00000134297	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1025090	0.93[MKK][hapmap]
rs10459293	0.89[CHB][hapmap]
rs10459294	0.89[CHB][hapmap]
rs10785556	0.82[CHD][hapmap]
rs10880758	0.82[CHD][hapmap]
rs10880765	0.82[CHB][hapmap]
rs11182904	0.82[CHD][hapmap]
rs11182916	0.84[CHB][hapmap];0.88[CHD][hapmap];0.93[MKK][hapmap]
rs11182919	0.83[CHB][hapmap]
rs11182927	0.89[CHB][hapmap];0.88[CHD][hapmap]
rs11182931	0.89[CHB][hapmap];0.88[CHD][hapmap];0.93[MKK][hapmap]
rs11182954	0.84[CHB][hapmap];0.93[MKK][hapmap]
rs11182955	0.84[CHB][hapmap]
rs11612233	0.84[CHB][hapmap];0.88[CHD][hapmap]
rs12228733	0.83[CHB][hapmap]
rs17095557	0.89[CHB][hapmap];0.88[CHD][hapmap]
rs2408185	0.84[CHB][hapmap]
rs35054776	0.89[CHB][hapmap];0.88[CHD][hapmap]
rs3759082	0.84[CHB][hapmap]
rs3782131	0.84[CHB][hapmap];0.88[CHD][hapmap]
rs7954282	0.82[CHD][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050923	chr12:45581310-45808289	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45629800-45651400	Weak transcription	Fetal Intestine Large	intestine
2	chr12:45629800-45652400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr12:45630000-45653200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr12:45636200-45652400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr12:45636200-45653400	Weak transcription	Thymus	Thymus
6	chr12:45636200-45662400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr12:45636400-45652200	Weak transcription	Fetal Intestine Small	intestine
8	chr12:45636400-45653200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr12:45638800-45652200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr12:45638800-45652200	Weak transcription	Duodenum Mucosa	Duodenum
11	chr12:45639000-45653200	Weak transcription	Placenta	Placenta
12	chr12:45639000-45653600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr12:45641600-45652800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr12:45643000-45652400	Weak transcription	HUVEC	blood vessel
15	chr12:45644000-45653200	Weak transcription	Fetal Kidney	kidney
16	chr12:45646600-45653800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr12:45647400-45652800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr12:45648000-45657400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr12:45648200-45653000	Weak transcription	NHLF	lung
20	chr12:45648400-45652200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr12:45648400-45653200	Weak transcription	Small Intestine	intestine
22	chr12:45649000-45652400	Weak transcription	NHEK	skin
23	chr12:45649600-45653200	Weak transcription	Fetal Brain Female	brain
24	chr12:45649800-45651600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr12:45649800-45651600	Flanking Active TSS	GM12878-XiMat	blood
26	chr12:45649800-45653600	Enhancers	Liver	Liver
27	chr12:45650000-45651400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr12:45650200-45651400	Enhancers	Primary T cells from cord blood	blood
29	chr12:45650200-45651400	Enhancers	A549	lung
30	chr12:45650200-45651600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr12:45650400-45651400	Enhancers	Primary hematopoietic stem cells	blood
32	chr12:45650600-45651600	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr12:45650600-45651600	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr12:45650600-45651600	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr12:45650600-45651600	Enhancers	Primary B cells from cord blood	blood
36	chr12:45650600-45651600	Enhancers	Primary B cells from peripheral blood	blood
37	chr12:45650600-45651600	Enhancers	Fetal Thymus	thymus
38	chr12:45650600-45654600	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr12:45650800-45651400	Enhancers	H1 Cell Line	embryonic stem cell
40	chr12:45650800-45651400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr12:45650800-45651400	Enhancers	Primary T cells fromperipheralblood	blood
42	chr12:45650800-45651400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
43	chr12:45650800-45651400	Enhancers	Brain Hippocampus Middle	brain
44	chr12:45650800-45651400	Enhancers	Fetal Stomach	stomach
45	chr12:45650800-45651600	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr12:45650800-45651600	Enhancers	H9 Cell Line	embryonic stem cell
47	chr12:45650800-45651600	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr12:45650800-45651600	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr12:45650800-45651600	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr12:45650800-45651600	Enhancers	iPS-20b Cell Line	embryonic stem cell

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