Variant report

Variant	rs17075814
Chromosome Location	chr3:43590974-43590975
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:43587624..43589880-chr3:43590753..43592706,2	K562	blood:
2	chr3:43585085..43587438-chr3:43589479..43591274,2	K562	blood:
3	chr3:43581494..43583966-chr3:43589157..43591023,2	MCF-7	breast:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10461014	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12634274	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[TSI][hapmap]
rs1384433	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1395372	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1588027	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[TSI][hapmap]
rs17075597	1.00[CHB][hapmap]
rs17075630	0.82[CHB][hapmap]
rs17075705	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17075743	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17075792	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17075848	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2372437	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3755603	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3772170	1.00[GIH][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes]
rs4128529	1.00[CHB][hapmap]
rs4395382	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4462942	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4510359	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[TSI][hapmap];0.81[YRI][hapmap]
rs4586783	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4682685	1.00[CHB][hapmap];0.92[CHD][hapmap];0.81[TSI][hapmap]
rs4682689	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4682882	1.00[CHB][hapmap]
rs4682893	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58731196	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6441772	1.00[CHB][hapmap]
rs6441777	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6770540	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6783741	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[TSI][hapmap]
rs6799364	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6800983	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[TSI][hapmap]
rs7613972	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7628317	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7631398	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9311339	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[TSI][hapmap]
rs965928	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs977911	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[TSI][hapmap];0.84[YRI][hapmap]
rs9832135	0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs9863943	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9874278	1.00[CEU][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428738	chr3:43491435-43651168	Strong transcription Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv822067	chr3:43584576-43592360	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv822068	chr3:43584795-43592360	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv822069	chr3:43585009-43592360	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv822070	chr3:43585009-43596684	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv820135	chr3:43585311-43594452	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:43540200-43602200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr3:43544000-43617600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr3:43547600-43595800	Weak transcription	Fetal Stomach	stomach
4	chr3:43553000-43601600	Weak transcription	Colon Smooth Muscle	Colon
5	chr3:43553600-43595800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr3:43556200-43624800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr3:43558600-43625600	Weak transcription	Lung	lung
8	chr3:43560800-43618000	Weak transcription	Brain Hippocampus Middle	brain
9	chr3:43561200-43601200	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr3:43561400-43600400	Weak transcription	Stomach Smooth Muscle	stomach
11	chr3:43561600-43601000	Weak transcription	Pancreas	Pancrea
12	chr3:43561800-43602000	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr3:43571000-43594600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr3:43571000-43613600	Weak transcription	Gastric	stomach
15	chr3:43573800-43596400	Weak transcription	HMEC	breast
16	chr3:43573800-43601400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr3:43573800-43617800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr3:43574800-43662400	Weak transcription	Right Ventricle	heart
19	chr3:43576200-43601000	Weak transcription	Esophagus	oesophagus
20	chr3:43576200-43623800	Weak transcription	Psoas Muscle	Psoas
21	chr3:43576400-43613600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr3:43576400-43621200	Weak transcription	NHEK	skin
23	chr3:43577200-43595400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr3:43577600-43625400	Weak transcription	HUVEC	blood vessel
25	chr3:43577800-43595000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr3:43578200-43599800	Weak transcription	Fetal Brain Female	brain
27	chr3:43578400-43593400	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr3:43579000-43594600	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr3:43579200-43600200	Weak transcription	Liver	Liver
30	chr3:43580600-43647600	Weak transcription	Brain Angular Gyrus	brain
31	chr3:43580800-43613800	Weak transcription	Aorta	Aorta
32	chr3:43581800-43594800	Weak transcription	Fetal Muscle Leg	muscle
33	chr3:43581800-43601400	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr3:43582000-43601600	Weak transcription	HepG2	liver
35	chr3:43582200-43600600	Weak transcription	Placenta	Placenta
36	chr3:43582400-43607000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr3:43582600-43617800	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr3:43582800-43602200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr3:43584000-43591400	Weak transcription	A549	lung
40	chr3:43584000-43632800	Weak transcription	Small Intestine	intestine
41	chr3:43584400-43595000	Weak transcription	Fetal Intestine Small	intestine
42	chr3:43584600-43614000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr3:43585600-43602200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr3:43585600-43624400	Weak transcription	Fetal Lung	lung
45	chr3:43585800-43598200	Weak transcription	Stomach Mucosa	stomach
46	chr3:43585800-43603800	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr3:43585800-43617800	Weak transcription	Brain Cingulate Gyrus	brain
48	chr3:43586400-43593800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr3:43586400-43596000	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr3:43587000-43647200	Weak transcription	Fetal Kidney	kidney

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