Variant report

Variant	rs7783102
Chromosome Location	chr7:127515670-127515671
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:127515197..127517190-chr7:127518655..127520220,2	K562	blood:
2	chr7:127514885..127517245-chr7:127526178..127528384,2	MCF-7	breast:
3	chr7:127512043..127515150-chr7:127515300..127517593,3	MCF-7	breast:
4	chr7:127506647..127509422-chr7:127514082..127515835,2	K562	blood:
5	chr7:127514549..127522691-chr7:127524662..127530854,11	K562	blood:

Variant related genes	Relation type
ENSG00000197157	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10226394	0.94[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs10239440	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs10246505	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10249616	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs10265516	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10280863	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1035295	0.85[EUR][1000 genomes]
rs11765620	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11767317	0.87[ASN][1000 genomes]
rs11773160	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1440972	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs3757764	0.94[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap];0.87[EUR][1000 genomes]
rs3757768	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3808080	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3808081	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3808083	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3808089	1.00[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4473953	0.94[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57103099	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6467152	0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6943219	0.83[ASN][1000 genomes]
rs6943385	0.83[ASN][1000 genomes]
rs6947779	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6953134	0.83[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.84[MEX][hapmap];0.94[MKK][hapmap];0.86[YRI][hapmap];0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6965698	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6968751	0.94[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap]
rs6969353	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6976887	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6979634	0.94[ASW][hapmap];0.83[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.86[MEX][hapmap];0.86[MKK][hapmap];0.82[YRI][hapmap]
rs73450923	0.82[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs7778413	0.83[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.86[MEX][hapmap];0.94[MKK][hapmap];0.86[YRI][hapmap];0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7783478	0.83[ASN][1000 genomes]
rs7784200	0.88[CHB][hapmap]
rs7786786	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.96[TSI][hapmap];0.89[YRI][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7792695	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv526535	chr7:127445594-127623840	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1024743	chr7:127498695-127670004	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127485200-127527800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr7:127485600-127522000	Weak transcription	Placenta	Placenta
3	chr7:127488200-127516400	Weak transcription	HMEC	breast
4	chr7:127491400-127527800	Weak transcription	Liver	Liver
5	chr7:127496600-127519400	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr7:127498600-127525000	Weak transcription	Fetal Intestine Small	intestine
7	chr7:127498800-127519400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr7:127498800-127521800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr7:127498800-127524600	Weak transcription	Gastric	stomach
10	chr7:127498800-127525600	Weak transcription	Fetal Stomach	stomach
11	chr7:127500200-127521800	Weak transcription	Pancreas	Pancrea
12	chr7:127500200-127535400	Weak transcription	Rectal Smooth Muscle	rectum
13	chr7:127500400-127527800	Weak transcription	Duodenum Mucosa	Duodenum
14	chr7:127500400-127527800	Weak transcription	Dnd41	blood
15	chr7:127500400-127528000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr7:127500600-127517400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr7:127500600-127527400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr7:127501000-127527800	Weak transcription	Fetal Thymus	thymus
19	chr7:127503000-127524400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr7:127503400-127517600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr7:127504600-127522000	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr7:127505200-127515800	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr7:127505400-127516000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr7:127505400-127537800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr7:127505600-127525200	Weak transcription	Primary hematopoietic stem cells	blood
26	chr7:127505600-127528400	Weak transcription	Hela-S3	cervix
27	chr7:127505800-127518200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr7:127505800-127539600	Weak transcription	Small Intestine	intestine
29	chr7:127505800-127542000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr7:127507000-127525000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr7:127507200-127517400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr7:127507400-127524600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr7:127507600-127515800	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr7:127509000-127516800	Weak transcription	Primary B cells from cord blood	blood
35	chr7:127509400-127521800	Weak transcription	Left Ventricle	heart
36	chr7:127509400-127521800	Weak transcription	Right Atrium	heart
37	chr7:127512000-127517200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr7:127512200-127525000	Weak transcription	Fetal Heart	heart
39	chr7:127512400-127516000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr7:127512600-127528000	Weak transcription	Primary B cells from peripheral blood	blood
41	chr7:127513200-127519800	Enhancers	NHDF-Ad	bronchial
42	chr7:127513800-127517000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr7:127514000-127516400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr7:127514000-127517800	Enhancers	Osteobl	bone
45	chr7:127514000-127519400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr7:127514200-127521800	Weak transcription	Brain Angular Gyrus	brain
47	chr7:127514200-127521800	Weak transcription	Psoas Muscle	Psoas
48	chr7:127514200-127522000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr7:127514400-127516000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr7:127514400-127516400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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