Variant report

Variant	rs17132716
Chromosome Location	chr7:120487862-120487863
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:120483102..120485878-chr7:120487827..120490041,2	MCF-7	breast:

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10252911	1.00[CEU][hapmap];0.83[CHB][hapmap]
rs10261886	1.00[CHB][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs10272601	1.00[CEU][hapmap]
rs13438082	0.81[ASN][1000 genomes]
rs17142995	0.80[ASN][1000 genomes]
rs17143001	0.89[CHB][hapmap];0.89[JPT][hapmap]
rs17143009	0.89[CHB][hapmap];0.89[JPT][hapmap]
rs17143055	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs1859316	1.00[CEU][hapmap];0.84[CHB][hapmap]
rs2107276	0.84[CHB][hapmap];0.86[ASN][1000 genomes]
rs2158323	0.87[ASN][1000 genomes]
rs2158324	0.80[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs2189452	0.94[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2402551	0.80[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs3757556	1.00[CEU][hapmap]
rs3757557	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs3779386	0.83[CHB][hapmap];0.90[ASN][1000 genomes]
rs3779387	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3779388	0.94[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs3779389	0.94[CHB][hapmap];0.94[JPT][hapmap];0.82[YRI][hapmap];0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4141301	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs4141309	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4461820	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs56755229	0.83[ASN][1000 genomes]
rs56922360	0.83[ASN][1000 genomes]
rs57457261	0.83[ASN][1000 genomes]
rs57818444	0.83[ASN][1000 genomes]
rs58686737	0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs59169713	0.83[ASN][1000 genomes]
rs59567952	0.80[ASN][1000 genomes]
rs60837162	0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs61043018	0.83[ASN][1000 genomes]
rs6964344	1.00[CEU][hapmap]
rs6971854	0.83[CHB][hapmap];0.90[ASN][1000 genomes]
rs6975372	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs6979247	1.00[CEU][hapmap];0.84[CHB][hapmap]
rs714259	0.83[CHB][hapmap]
rs73427805	0.90[ASN][1000 genomes]
rs73427831	0.95[ASN][1000 genomes]
rs73427834	0.94[ASN][1000 genomes]
rs7776721	1.00[CEU][hapmap];0.84[CHB][hapmap]
rs7779136	0.83[ASN][1000 genomes]
rs7779149	0.83[ASN][1000 genomes]
rs7779941	0.83[ASN][1000 genomes]
rs7780247	0.83[ASN][1000 genomes]
rs7789807	0.94[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7800318	0.89[ASN][1000 genomes]
rs7806629	0.83[ASN][1000 genomes]
rs9648991	0.82[ASN][1000 genomes]
rs9648992	0.83[ASN][1000 genomes]
rs9648993	0.83[ASN][1000 genomes]
rs9649427	0.83[ASN][1000 genomes]
rs9649428	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1818826	chr7:120405335-120622836	Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv5929	chr7:120467591-120513472	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120443000-120488000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr7:120445200-120494400	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr7:120474000-120492400	Weak transcription	Fetal Lung	lung
4	chr7:120474000-120496400	Weak transcription	Stomach Smooth Muscle	stomach
5	chr7:120474600-120496600	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr7:120476600-120492400	Weak transcription	Gastric	stomach
7	chr7:120477000-120489800	Weak transcription	Fetal Muscle Trunk	muscle
8	chr7:120477000-120492400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr7:120477200-120496200	Weak transcription	Aorta	Aorta
10	chr7:120479400-120488000	Weak transcription	Right Atrium	heart
11	chr7:120479600-120494000	Weak transcription	HUVEC	blood vessel
12	chr7:120480000-120488000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr7:120482600-120495200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr7:120482600-120496200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr7:120482800-120492200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr7:120482800-120496400	Weak transcription	Liver	Liver
17	chr7:120482800-120496400	Weak transcription	Rectal Smooth Muscle	rectum
18	chr7:120482800-120496600	Weak transcription	Stomach Mucosa	stomach
19	chr7:120483400-120496200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr7:120483400-120496400	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr7:120483600-120496600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr7:120485000-120488000	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr7:120485000-120488600	Enhancers	Fetal Intestine Large	intestine
24	chr7:120485000-120493800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr7:120485200-120496200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr7:120485200-120496200	Weak transcription	Fetal Stomach	stomach
27	chr7:120485200-120496600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr7:120485200-120496600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr7:120485400-120489800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr7:120485400-120489800	Weak transcription	Fetal Muscle Leg	muscle
31	chr7:120485400-120496400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr7:120485400-120496400	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr7:120485600-120488200	Enhancers	Fetal Intestine Small	intestine
34	chr7:120485800-120488000	Weak transcription	Small Intestine	intestine
35	chr7:120486200-120488200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr7:120486600-120488400	Enhancers	Fetal Kidney	kidney
37	chr7:120487000-120488400	Enhancers	Left Ventricle	heart
38	chr7:120487000-120490400	Enhancers	Fetal Heart	heart
39	chr7:120487200-120490600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr7:120487400-120489400	Enhancers	Duodenum Smooth Muscle	Duodenum
41	chr7:120487400-120492400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr7:120487600-120488000	Weak transcription	Colonic Mucosa	Colon
43	chr7:120487600-120488200	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr7:120487600-120488200	Enhancers	Duodenum Mucosa	Duodenum
45	chr7:120487600-120488200	Enhancers	Lung	lung
46	chr7:120487600-120489200	Enhancers	Colon Smooth Muscle	Colon
47	chr7:120487600-120495000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr7:120487800-120488400	Enhancers	Right Ventricle	heart

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