Variant report

Variant	rs2294773
Chromosome Location	chr6:142765405-142765406
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:142765212..142767183-chr6:142771549..142773633,2	K562	blood:
2	chr6:142763089..142766069-chr6:142766128..142768909,2	K562	blood:

Extended variants
information (count: 31 )
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];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17071798	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[AMR][1000 genomes];0.96[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];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2143390	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2223616	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2294765	1.00[ASW][hapmap];0.88[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.91[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2294768	1.00[ASW][hapmap];0.88[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2294770	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2294772	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];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34701089	0.85[EUR][1000 genomes]
rs41289839	0.89[AMR][1000 genomes];0.91[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];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6570512	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6913116	0.88[CEU][hapmap];0.89[AMR][1000 genomes];0.91[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];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[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];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9321865	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9321871	0.81[EUR][1000 genomes]
rs9373343	0.88[CEU][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9373345	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9376687	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9376689	0.88[CEU][hapmap];0.87[CHB][hapmap];0.88[JPT][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9385993	1.00[CEU][hapmap];0.88[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9385994	1.00[CEU][hapmap];0.87[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.93[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];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9389990	0.88[CEU][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9403379	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9403384	1.00[ASW][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9484645	0.85[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	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

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:142737600-142765600	Weak transcription	Duodenum Mucosa	Duodenum
2	chr6:142737800-142765800	Weak transcription	Fetal Brain Male	brain
3	chr6:142738000-142774200	Weak transcription	NHEK	skin
4	chr6:142743200-142769200	Weak transcription	HMEC	breast
5	chr6:142748000-142782600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr6:142750000-142766000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr6:142751600-142780000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr6:142752400-142774600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr6:142753600-142774000	Strong transcription	Liver	Liver
10	chr6:142754000-142772800	Strong transcription	HepG2	liver
11	chr6:142755200-142765800	Weak transcription	Fetal Intestine Small	intestine
12	chr6:142755200-142766000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr6:142760000-142770600	Weak transcription	Lung	lung
14	chr6:142760400-142767800	Weak transcription	Esophagus	oesophagus
15	chr6:142760600-142765800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr6:142762200-142773000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr6:142762400-142766000	Weak transcription	HUVEC	blood vessel
18	chr6:142762800-142765800	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr6:142762800-142766800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr6:142763200-142765800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr6:142763200-142765800	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr6:142763200-142765800	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr6:142763200-142765800	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr6:142763200-142765800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr6:142763200-142766000	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr6:142763200-142766000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr6:142763400-142765600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr6:142764000-142766400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr6:142764200-142766600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr6:142764200-142767000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr6:142764600-142766200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr6:142764600-142766400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr6:142764600-142766400	Strong transcription	Primary hematopoietic stem cells	blood
34	chr6:142764800-142766200	Enhancers	NHLF	lung
35	chr6:142764800-142767800	Enhancers	Fetal Lung	lung
36	chr6:142765000-142765600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr6:142765000-142765600	Weak transcription	A549	lung
38	chr6:142765000-142766400	Enhancers	Osteobl	bone
39	chr6:142765400-142765600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
40	chr6:142765400-142766000	Enhancers	HSMM	muscle
41	chr6:142765400-142766200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr6:142765400-142766200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr6:142765400-142766200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr6:142765400-142766200	Strong transcription	Placenta Amnion	Placenta Amnion
45	chr6:142765400-142766400	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr6:142765400-142766400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr6:142765400-142766400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr6:142765400-142766400	Enhancers	Fetal Intestine Large	intestine
49	chr6:142765400-142766600	Enhancers	Fetal Stomach	stomach
50	chr6:142765400-142767000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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