Variant report

Variant	rs10239440
Chromosome Location	chr7:127406049-127406050
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	chr7:127405359..127407780-chr7:127410087..127411975,3	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10229583	0.88[CHB][hapmap]
rs10249616	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10265516	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs10270127	0.89[CEU][hapmap]
rs10280863	0.86[AMR][1000 genomes]
rs11765620	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11767317	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1440972	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3757764	0.94[CEU][hapmap];0.82[CHB][hapmap];0.81[GIH][hapmap];0.92[TSI][hapmap]
rs3757768	0.90[AFR][1000 genomes]
rs3808089	1.00[ASW][hapmap];0.94[CEU][hapmap];0.88[CHB][hapmap];0.87[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs4473953	0.94[ASW][hapmap];0.94[CEU][hapmap];0.88[CHB][hapmap];0.91[GIH][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs57103099	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs6467152	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6943219	0.94[CEU][hapmap];0.88[CHB][hapmap];0.91[GIH][hapmap];0.85[MEX][hapmap];0.88[MKK][hapmap];0.89[YRI][hapmap];0.80[EUR][1000 genomes]
rs6943385	0.94[CEU][hapmap];0.88[CHB][hapmap];0.91[GIH][hapmap];0.85[MEX][hapmap];0.80[EUR][1000 genomes]
rs6946292	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6947779	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6953134	0.94[CEU][hapmap];0.88[CHB][hapmap];0.91[GIH][hapmap];0.83[MEX][hapmap];0.97[MKK][hapmap];0.89[YRI][hapmap];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6965698	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6969353	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs6976887	0.87[AMR][1000 genomes]
rs6979634	0.94[ASW][hapmap];0.94[CEU][hapmap];0.88[CHB][hapmap];0.91[GIH][hapmap];0.81[LWK][hapmap];0.85[MEX][hapmap];0.88[MKK][hapmap];0.86[YRI][hapmap];0.80[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs73450923	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7778413	0.94[CEU][hapmap];0.88[CHB][hapmap];0.91[GIH][hapmap];0.85[MEX][hapmap];0.97[MKK][hapmap];0.82[TSI][hapmap];0.89[YRI][hapmap];0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7781189	0.94[CEU][hapmap];0.88[CHB][hapmap];0.80[EUR][1000 genomes]
rs7783102	1.00[ASW][hapmap];0.88[CEU][hapmap];0.88[CHB][hapmap];0.83[GIH][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.96[TSI][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs7783478	0.82[EUR][1000 genomes]
rs7786786	0.94[CEU][hapmap];0.88[CHB][hapmap];0.87[GIH][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.80[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7792695	0.82[EUR][1000 genomes]
rs806179	0.89[CEU][hapmap];0.82[CHB][hapmap]

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	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1016143	chr7:127251359-127726762	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv831123	chr7:127289511-127510396	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv1030387	chr7:127348973-127455890	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	esv1793220	chr7:127400473-127413555	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127373200-127410000	Weak transcription	Stomach Smooth Muscle	stomach
2	chr7:127375400-127417400	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr7:127376800-127409200	Weak transcription	HUVEC	blood vessel
4	chr7:127377000-127409200	Weak transcription	NHLF	lung
5	chr7:127378200-127412200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr7:127379200-127437400	Weak transcription	Fetal Stomach	stomach
7	chr7:127380000-127409200	Weak transcription	Aorta	Aorta
8	chr7:127382000-127473000	Weak transcription	Hela-S3	cervix
9	chr7:127388400-127406200	Weak transcription	Primary B cells from cord blood	blood
10	chr7:127388600-127407000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr7:127388600-127407000	Weak transcription	Dnd41	blood
12	chr7:127390200-127407200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr7:127391600-127407000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr7:127391600-127407000	Weak transcription	Primary T cells from cord blood	blood
15	chr7:127391800-127408400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr7:127392000-127406400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr7:127392000-127408000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr7:127392000-127408000	Weak transcription	NH-A	brain
19	chr7:127392000-127409000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr7:127392000-127409600	Weak transcription	HMEC	breast
21	chr7:127392200-127407000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr7:127392200-127407800	Weak transcription	Fetal Muscle Trunk	muscle
23	chr7:127392200-127408200	Weak transcription	NHDF-Ad	bronchial
24	chr7:127392200-127409000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr7:127392200-127409200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr7:127392200-127410400	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr7:127392200-127411000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr7:127392400-127407000	Weak transcription	HSMM	muscle
29	chr7:127392600-127410000	Weak transcription	Left Ventricle	heart
30	chr7:127393200-127422800	Weak transcription	Fetal Thymus	thymus
31	chr7:127395400-127406800	Weak transcription	Colon Smooth Muscle	Colon
32	chr7:127395400-127422200	Weak transcription	Primary B cells from peripheral blood	blood
33	chr7:127395800-127406800	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr7:127395800-127406800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr7:127395800-127409400	Weak transcription	Right Atrium	heart
36	chr7:127395800-127437200	Weak transcription	Fetal Muscle Leg	muscle
37	chr7:127396000-127407200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr7:127396400-127422200	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr7:127396800-127406200	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr7:127396800-127407000	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr7:127396800-127409400	Weak transcription	Fetal Heart	heart
42	chr7:127397800-127407000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr7:127398400-127408400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr7:127398600-127407000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr7:127398600-127407000	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr7:127398600-127407000	Weak transcription	Osteobl	bone
47	chr7:127399000-127409600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr7:127399600-127408000	Weak transcription	HSMMtube	muscle
49	chr7:127401000-127406400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr7:127401000-127409000	Weak transcription	A549	lung

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