Variant report

Variant	rs7980267
Chromosome Location	chr12:64484033-64484034
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:64481819..64484735-chr12:64488926..64491185,2	MCF-7	breast:
2	chr12:64473981..64476919-chr12:64483268..64486226,2	MCF-7	breast:
3	chr12:64479951..64485061-chr12:64487402..64490440,5	MCF-7	breast:
4	chr12:64483316..64484966-chr12:64493409..64495146,2	MCF-7	breast:
5	chr12:64473507..64478199-chr12:64480317..64485815,7	MCF-7	breast:
6	chr12:64240054..64242405-chr12:64482423..64484975,2	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10878102	0.90[CHB][hapmap];0.90[CHD][hapmap];0.90[TSI][hapmap];0.80[EUR][1000 genomes]
rs11175238	0.85[CHB][hapmap];0.80[JPT][hapmap];0.80[EUR][1000 genomes]
rs1162788	0.81[CEU][hapmap];0.85[CHB][hapmap];0.90[CHD][hapmap];0.80[JPT][hapmap];0.85[EUR][1000 genomes]
rs12228437	0.83[CEU][hapmap];0.85[CHB][hapmap];0.81[JPT][hapmap];0.85[EUR][1000 genomes]
rs1344400	0.85[EUR][1000 genomes]
rs1456046	0.90[CHB][hapmap]
rs1565942	0.90[CHB][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs2168411	0.81[CEU][hapmap];0.85[CHB][hapmap];0.80[JPT][hapmap];0.82[EUR][1000 genomes]
rs2647908	0.83[ASN][1000 genomes]
rs28366579	0.81[EUR][1000 genomes]
rs4763134	0.85[EUR][1000 genomes]
rs4763138	0.80[MKK][hapmap]
rs6581529	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs6581530	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs990309	0.85[CHB][hapmap];0.90[CHD][hapmap];0.85[JPT][hapmap];0.80[MEX][hapmap];0.90[TSI][hapmap];0.81[EUR][1000 genomes]

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	esv3351487	chr12:64420364-64763950	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64457000-64510600	Weak transcription	HepG2	liver
2	chr12:64474800-64521400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:64475400-64486000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr12:64477400-64520800	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr12:64481200-64484800	Weak transcription	Small Intestine	intestine
6	chr12:64481600-64484200	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr12:64481800-64484200	Enhancers	Brain Hippocampus Middle	brain
8	chr12:64482000-64488800	Enhancers	Fetal Brain Male	brain
9	chr12:64482200-64485800	Enhancers	Fetal Muscle Leg	muscle
10	chr12:64482400-64484400	Enhancers	Stomach Smooth Muscle	stomach
11	chr12:64482400-64485200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr12:64482600-64484600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr12:64482600-64484800	Weak transcription	Fetal Lung	lung
14	chr12:64482600-64485000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr12:64482600-64485200	Enhancers	Left Ventricle	heart
16	chr12:64482600-64497600	Weak transcription	Fetal Kidney	kidney
17	chr12:64482800-64484400	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr12:64482800-64484800	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr12:64482800-64485000	Enhancers	Fetal Heart	heart
20	chr12:64482800-64493000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr12:64482800-64503400	Weak transcription	Fetal Intestine Large	intestine
22	chr12:64483000-64485200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr12:64483000-64485200	Enhancers	NHLF	lung
24	chr12:64483000-64485600	Weak transcription	Brain Germinal Matrix	brain
25	chr12:64483000-64492600	Weak transcription	Fetal Stomach	stomach
26	chr12:64483000-64492600	Weak transcription	Rectal Smooth Muscle	rectum
27	chr12:64483000-64521400	Weak transcription	Liver	Liver
28	chr12:64483200-64484200	Weak transcription	Placenta	Placenta
29	chr12:64483200-64484200	Enhancers	HSMM	muscle
30	chr12:64483200-64484400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr12:64483200-64484400	Enhancers	HSMMtube	muscle
32	chr12:64483200-64484800	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr12:64483200-64484800	Weak transcription	Right Atrium	heart
34	chr12:64483200-64485000	Weak transcription	Fetal Brain Female	brain
35	chr12:64483200-64485800	Enhancers	Muscle Satellite Cultured Cells	--
36	chr12:64483200-64491200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr12:64483200-64491200	Weak transcription	Fetal Intestine Small	intestine
38	chr12:64483200-64491400	Weak transcription	Brain Anterior Caudate	brain
39	chr12:64483200-64492400	Weak transcription	Colon Smooth Muscle	Colon
40	chr12:64483200-64498200	Weak transcription	Ovary	ovary
41	chr12:64483200-64502400	Weak transcription	Aorta	Aorta
42	chr12:64483200-64502400	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr12:64483200-64503400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr12:64483200-64520800	Weak transcription	Brain Cingulate Gyrus	brain
45	chr12:64483200-64521400	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr12:64483400-64485400	Genic enhancers	A549	lung
47	chr12:64483400-64495600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr12:64483400-64503600	Weak transcription	Right Ventricle	heart
49	chr12:64483400-64505400	Weak transcription	Duodenum Mucosa	Duodenum
50	chr12:64483600-64484200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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