Variant report

Variant	rs11175219
Chromosome Location	chr12:64362719-64362720
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:64361242..64364159-chr12:64364503..64367184,2	MCF-7	breast:
2	chr12:64356528..64360671-chr12:64362501..64365112,4	MCF-7	breast:
3	chr12:64360379..64362795-chr12:64366737..64368794,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11175216	0.94[ASN][1000 genomes]
rs12227635	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs17099949	1.00[ASW][hapmap]
rs17711166	1.00[ASW][hapmap]
rs699629	1.00[ASW][hapmap]
rs789738	1.00[ASW][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64312400-64385000	Weak transcription	Aorta	Aorta
2	chr12:64344600-64363800	Weak transcription	Fetal Intestine Small	intestine
3	chr12:64345400-64363800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr12:64346000-64365400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr12:64355600-64363800	Weak transcription	Adipose Nuclei	Adipose
6	chr12:64358600-64363000	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr12:64358800-64363200	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr12:64359600-64362800	Enhancers	NHDF-Ad	bronchial
9	chr12:64359800-64362800	Enhancers	Muscle Satellite Cultured Cells	--
10	chr12:64359800-64364000	Enhancers	NHLF	lung
11	chr12:64360600-64363800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr12:64360600-64363800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr12:64360600-64365600	Weak transcription	Small Intestine	intestine
14	chr12:64360800-64362800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr12:64360800-64363600	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr12:64360800-64364200	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr12:64360800-64365000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr12:64361000-64362800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr12:64361000-64362800	Enhancers	Left Ventricle	heart
20	chr12:64361000-64363200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:64361000-64363200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr12:64361000-64364000	Enhancers	Fetal Brain Female	brain
23	chr12:64361400-64363000	Enhancers	Brain Angular Gyrus	brain
24	chr12:64361400-64363600	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr12:64361400-64363600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr12:64361400-64364000	Weak transcription	Ovary	ovary
27	chr12:64361400-64364200	Enhancers	Brain Hippocampus Middle	brain
28	chr12:64361600-64363400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr12:64361600-64363800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr12:64361600-64365000	Enhancers	Fetal Brain Male	brain
31	chr12:64361800-64363600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr12:64361800-64363800	Weak transcription	HSMMtube	muscle
33	chr12:64361800-64364000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr12:64361800-64364200	Enhancers	Brain Germinal Matrix	brain
35	chr12:64361800-64371600	Weak transcription	HMEC	breast
36	chr12:64361800-64371800	Weak transcription	NH-A	brain
37	chr12:64362000-64363800	Weak transcription	A549	lung
38	chr12:64362000-64367600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr12:64362000-64369800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr12:64362000-64371600	Weak transcription	NHEK	skin
41	chr12:64362200-64362800	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr12:64362200-64362800	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr12:64362200-64362800	Enhancers	Pancreas	Pancrea
44	chr12:64362200-64362800	Enhancers	Right Atrium	heart
45	chr12:64362200-64362800	Enhancers	Right Ventricle	heart
46	chr12:64362200-64363000	Enhancers	Fetal Muscle Leg	muscle
47	chr12:64362200-64363200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr12:64362200-64363600	Weak transcription	HUVEC	blood vessel
49	chr12:64362400-64362800	Enhancers	H1 Cell Line	embryonic stem cell
50	chr12:64362400-64362800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain

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