Variant report

Variant	rs11172900
Chromosome Location	chr12:59480362-59480363
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:59312732..59314963-chr12:59478479..59481283,2	MCF-7	breast:
2	chr12:59301019..59303651-chr12:59478405..59481329,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257443	Chromatin interaction
ENSG00000139263	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11172903	0.85[EUR][1000 genomes]
rs11172904	0.85[EUR][1000 genomes]
rs12367481	0.86[EUR][1000 genomes]
rs17552529	0.85[EUR][1000 genomes]
rs17552708	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043385	chr12:59149582-59758952	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1067596	chr12:59167152-59764208	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv492251	chr12:59167152-59764208	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1047257	chr12:59444966-59520330	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1050662	chr12:59444966-59526442	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:59468400-59489000	Weak transcription	Esophagus	oesophagus
2	chr12:59476200-59480400	Enhancers	Fetal Intestine Small	intestine
3	chr12:59477400-59480800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr12:59477600-59480600	Enhancers	Fetal Lung	lung
5	chr12:59477600-59480600	Enhancers	Stomach Mucosa	stomach
6	chr12:59477600-59480800	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr12:59477600-59480800	Enhancers	Fetal Kidney	kidney
8	chr12:59477600-59480800	Enhancers	NHDF-Ad	bronchial
9	chr12:59477600-59480800	Enhancers	NHLF	lung
10	chr12:59477600-59481400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr12:59477800-59480600	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr12:59477800-59480600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr12:59477800-59480800	Enhancers	HMEC	breast
14	chr12:59478000-59480600	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr12:59478000-59480800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr12:59478200-59480400	Enhancers	Fetal Muscle Leg	muscle
17	chr12:59478200-59480600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr12:59478600-59482400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr12:59478800-59480800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr12:59479000-59480400	Enhancers	Duodenum Smooth Muscle	Duodenum
21	chr12:59479000-59480600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr12:59479000-59480800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr12:59479000-59480800	Enhancers	NH-A	brain
24	chr12:59479000-59481000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr12:59479000-59482400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr12:59479000-59494200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr12:59479200-59489600	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr12:59479400-59482400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr12:59479600-59480400	Enhancers	Small Intestine	intestine
30	chr12:59479600-59480600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr12:59479600-59482600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr12:59479800-59480400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr12:59479800-59480600	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr12:59479800-59481000	Enhancers	NHEK	skin
35	chr12:59480000-59480400	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr12:59480000-59480400	Enhancers	Colon Smooth Muscle	Colon
37	chr12:59480000-59480600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr12:59480000-59480600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr12:59480000-59480600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr12:59480000-59480600	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr12:59480000-59480800	Enhancers	Fetal Intestine Large	intestine
42	chr12:59480200-59480400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr12:59480200-59482400	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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