Variant report

Variant	rs17099952
Chromosome Location	chr12:64343100-64343101
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:64329679..64331420-chr12:64342919..64345262,2	MCF-7	breast:
2	chr12:64335711..64337439-chr12:64340636..64343314,2	MCF-7	breast:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10128867	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs10878096	0.84[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs10878097	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11175213	0.81[JPT][hapmap]

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	nsv1046836	chr12:63392391-64377169	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	nsv832442	chr12:64228071-64442771	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv559201	chr12:64333212-64366408	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
4	esv3449080	chr12:64341785-64344258	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
5	esv3356929	chr12:64342185-64343783	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64312400-64385000	Weak transcription	Aorta	Aorta
2	chr12:64328800-64360800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr12:64329800-64343800	Weak transcription	Osteobl	bone
4	chr12:64330000-64343800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr12:64330400-64346800	Weak transcription	Gastric	stomach
6	chr12:64332200-64343800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr12:64333000-64349200	Weak transcription	HSMM	muscle
8	chr12:64334600-64343400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr12:64334800-64343600	Weak transcription	Stomach Mucosa	stomach
10	chr12:64334800-64344000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr12:64334800-64344000	Weak transcription	Fetal Kidney	kidney
12	chr12:64334800-64349800	Weak transcription	Right Atrium	heart
13	chr12:64334800-64349800	Weak transcription	HSMMtube	muscle
14	chr12:64335800-64343600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr12:64335800-64343800	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr12:64336400-64343800	Weak transcription	Brain Angular Gyrus	brain
17	chr12:64336600-64349200	Weak transcription	NHDF-Ad	bronchial
18	chr12:64337000-64343800	Weak transcription	Fetal Brain Female	brain
19	chr12:64338800-64343400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr12:64338800-64343400	Weak transcription	Brain Substantia Nigra	brain
21	chr12:64338800-64344000	Weak transcription	Right Ventricle	heart
22	chr12:64338800-64344200	Weak transcription	Left Ventricle	heart
23	chr12:64339000-64343200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr12:64339000-64343400	Weak transcription	Fetal Stomach	stomach
25	chr12:64339000-64343600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr12:64339000-64343600	Weak transcription	Fetal Intestine Small	intestine
27	chr12:64339000-64343600	Weak transcription	Fetal Lung	lung
28	chr12:64339000-64343800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr12:64339000-64343800	Weak transcription	Adipose Nuclei	Adipose
30	chr12:64339000-64344000	Weak transcription	Fetal Intestine Large	intestine
31	chr12:64339400-64343400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr12:64339400-64343600	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr12:64339400-64345800	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr12:64339600-64343400	Weak transcription	Brain Hippocampus Middle	brain
35	chr12:64339600-64344000	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr12:64339600-64349600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr12:64339800-64343400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr12:64339800-64343400	Weak transcription	HepG2	liver
39	chr12:64339800-64343800	Weak transcription	Brain Germinal Matrix	brain
40	chr12:64339800-64343800	Weak transcription	Ovary	ovary
41	chr12:64339800-64344000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr12:64339800-64344000	Weak transcription	Fetal Brain Male	brain
43	chr12:64339800-64344200	Weak transcription	Lung	lung
44	chr12:64339800-64349200	Weak transcription	NHLF	lung
45	chr12:64339800-64349800	Weak transcription	Pancreas	Pancrea
46	chr12:64340000-64343400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr12:64340000-64360200	Weak transcription	NHEK	skin
48	chr12:64340400-64343400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr12:64340400-64343800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr12:64340400-64343800	Weak transcription	HMEC	breast

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