Variant report

Variant	rs3779387
Chromosome Location	chr7:120483095-120483096
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:120475241..120477501-chr7:120481801..120483425,2	MCF-7	breast:

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10252911	1.00[CEU][hapmap];0.80[CHB][hapmap]
rs10261886	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs10272601	1.00[CEU][hapmap]
rs10274689	0.80[ASN][1000 genomes]
rs12154992	1.00[CEU][hapmap]
rs13438082	0.81[ASN][1000 genomes]
rs17132716	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]
rs17143001	0.87[CHB][hapmap];0.88[JPT][hapmap]
rs17143009	0.87[CHB][hapmap];0.88[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];0.81[CHB][hapmap]
rs2107276	0.81[CHB][hapmap];0.86[ASN][1000 genomes]
rs2158323	0.89[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs2158324	1.00[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs2189452	0.92[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2402551	1.00[AFR][1000 genomes];0.86[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];1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs3779386	0.80[CHB][hapmap];0.90[ASN][1000 genomes]
rs3779388	0.93[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs3779389	0.92[CHB][hapmap];0.94[JPT][hapmap];0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs3823859	0.80[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];1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4461820	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.81[ASN][1000 genomes]
rs56755229	0.88[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs56922360	0.92[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs57457261	0.92[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs57816892	0.80[AFR][1000 genomes]
rs57818444	0.88[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs58686737	0.92[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs59169713	0.92[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs59567952	0.92[AFR][1000 genomes]
rs59790582	0.84[AFR][1000 genomes]
rs60837162	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs61043018	0.88[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs6466762	0.80[ASN][1000 genomes]
rs6964344	1.00[CEU][hapmap]
rs6971854	0.81[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];0.81[CHB][hapmap]
rs714259	0.80[CHB][hapmap]
rs73427805	0.90[ASN][1000 genomes]
rs73427831	0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs73427834	0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7776721	1.00[CEU][hapmap];0.81[CHB][hapmap]
rs7779136	0.92[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs7779149	0.85[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs7779941	0.92[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs7780130	0.84[AFR][1000 genomes]
rs7780247	0.92[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs7789807	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7800318	0.88[ASN][1000 genomes]
rs7806629	0.92[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs9648991	0.92[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs9648992	0.92[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs9648993	0.92[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs9649427	0.92[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs9649428	0.92[AFR][1000 genomes];0.81[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	chr7:120468600-120483200	Weak transcription	Right Ventricle	heart
4	chr7:120468600-120487600	Weak transcription	Lung	lung
5	chr7:120470600-120484600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr7:120474000-120492400	Weak transcription	Fetal Lung	lung
7	chr7:120474000-120496400	Weak transcription	Stomach Smooth Muscle	stomach
8	chr7:120474600-120496600	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr7:120476400-120484200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr7:120476600-120492400	Weak transcription	Gastric	stomach
11	chr7:120477000-120489800	Weak transcription	Fetal Muscle Trunk	muscle
12	chr7:120477000-120492400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr7:120477200-120496200	Weak transcription	Aorta	Aorta
14	chr7:120478000-120483400	Weak transcription	Fetal Stomach	stomach
15	chr7:120478000-120483400	Weak transcription	Left Ventricle	heart
16	chr7:120478400-120487400	Weak transcription	Colonic Mucosa	Colon
17	chr7:120478800-120483200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr7:120479400-120484000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr7:120479400-120488000	Weak transcription	Right Atrium	heart
20	chr7:120479600-120494000	Weak transcription	HUVEC	blood vessel
21	chr7:120480000-120488000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr7:120480200-120485000	Weak transcription	Fetal Heart	heart
23	chr7:120481400-120483200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr7:120482000-120484200	Genic enhancers	Fetal Kidney	kidney
25	chr7:120482200-120483200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr7:120482200-120483400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr7:120482200-120483600	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr7:120482200-120483600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr7:120482200-120483800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr7:120482200-120483800	Enhancers	Pancreas	Pancrea
31	chr7:120482400-120484600	Strong transcription	Fetal Intestine Large	intestine
32	chr7:120482400-120484600	Strong transcription	Fetal Muscle Leg	muscle
33	chr7:120482600-120483400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr7:120482600-120483400	Enhancers	Pancreatic Islets	Pancreatic Islet
35	chr7:120482600-120495200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr7:120482600-120496200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr7:120482800-120483400	Weak transcription	Fetal Intestine Small	intestine
38	chr7:120482800-120484000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr7:120482800-120484600	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr7:120482800-120484800	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr7:120482800-120485000	Weak transcription	Small Intestine	intestine
42	chr7:120482800-120487400	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr7:120482800-120492200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr7:120482800-120496400	Weak transcription	Liver	Liver
45	chr7:120482800-120496400	Weak transcription	Rectal Smooth Muscle	rectum
46	chr7:120482800-120496600	Weak transcription	Stomach Mucosa	stomach
47	chr7:120483000-120483200	Weak transcription	Duodenum Mucosa	Duodenum
48	chr7:120483000-120483400	Weak transcription	Colon Smooth Muscle	Colon

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