Variant report

Variant	rs2294772
Chromosome Location	chr6:142763069-142763070
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1013902	0.88[CEU][hapmap];0.87[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17071798	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2064314	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2143390	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2223616	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2294765	0.88[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2294768	0.88[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2294770	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2294773	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2294774	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34701089	0.88[EUR][1000 genomes]
rs41289839	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4140531	0.88[CEU][hapmap];0.87[CHB][hapmap];0.94[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6570512	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6913116	0.88[CEU][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7758750	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7759268	0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9321865	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9321871	0.84[EUR][1000 genomes]
rs9373343	0.88[CEU][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9373345	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9376687	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9376689	0.88[CEU][hapmap];0.87[CHB][hapmap];0.88[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9385993	1.00[CEU][hapmap];0.88[JPT][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9385994	1.00[CEU][hapmap];0.87[CHB][hapmap];0.94[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9389988	1.00[CEU][hapmap];0.87[CHB][hapmap];0.94[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9389990	0.88[CEU][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9403379	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9403384	0.94[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9484645	0.88[EUR][1000 genomes]

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	nsv949088	chr6:142561402-143128849	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer 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	esv3429097	chr6:142762259-142765357	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases
3	esv3449614	chr6:142762709-142765207	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:142718000-142763200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr6:142735200-142765400	Weak transcription	Hela-S3	cervix
3	chr6:142735800-142765400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr6:142737600-142765600	Weak transcription	Duodenum Mucosa	Duodenum
5	chr6:142737800-142765800	Weak transcription	Fetal Brain Male	brain
6	chr6:142738000-142774200	Weak transcription	NHEK	skin
7	chr6:142739000-142764800	Weak transcription	NHLF	lung
8	chr6:142743200-142769200	Weak transcription	HMEC	breast
9	chr6:142748000-142782600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr6:142749200-142764600	Weak transcription	Primary hematopoietic stem cells	blood
11	chr6:142750000-142766000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr6:142751600-142780000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr6:142752400-142774600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr6:142753600-142774000	Strong transcription	Liver	Liver
15	chr6:142754000-142772800	Strong transcription	HepG2	liver
16	chr6:142755200-142765800	Weak transcription	Fetal Intestine Small	intestine
17	chr6:142755200-142766000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr6:142756400-142764400	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr6:142757200-142765400	Weak transcription	Fetal Intestine Large	intestine
20	chr6:142757200-142765400	Weak transcription	Fetal Stomach	stomach
21	chr6:142758600-142763200	Strong transcription	A549	lung
22	chr6:142760000-142770600	Weak transcription	Lung	lung
23	chr6:142760400-142767800	Weak transcription	Esophagus	oesophagus
24	chr6:142760600-142765400	Weak transcription	HSMM	muscle
25	chr6:142760600-142765800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr6:142760800-142765400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr6:142761600-142763200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
28	chr6:142761600-142763200	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr6:142761600-142763200	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr6:142761800-142763200	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr6:142761800-142763200	Enhancers	H1 Cell Line	embryonic stem cell
32	chr6:142761800-142763200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr6:142761800-142763400	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr6:142762000-142765400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr6:142762200-142763200	Enhancers	H9 Cell Line	embryonic stem cell
36	chr6:142762200-142763200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr6:142762200-142763200	Genic enhancers	Fetal Lung	lung
38	chr6:142762200-142764200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr6:142762200-142765400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr6:142762200-142773000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr6:142762400-142764000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr6:142762400-142766000	Weak transcription	HUVEC	blood vessel
43	chr6:142762600-142763200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr6:142762600-142763200	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr6:142762600-142763400	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr6:142762600-142765400	Weak transcription	Placenta	Placenta
47	chr6:142762800-142765800	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr6:142762800-142766800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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