Variant report

Variant	rs6959766
Chromosome Location	chr7:69252380-69252381
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs1008379	0.88[ASN][1000 genomes]
rs10085775	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1014382	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10237145	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10241485	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11765886	0.94[ASN][1000 genomes]
rs12333508	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12698812	0.83[ASN][1000 genomes]
rs12698814	0.83[ASN][1000 genomes]
rs12698815	0.87[ASN][1000 genomes]
rs12698820	0.83[ASN][1000 genomes]
rs13228464	0.86[ASN][1000 genomes]
rs13232095	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13236841	0.87[ASN][1000 genomes]
rs1468588	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17353815	0.98[ASN][1000 genomes]
rs17458097	0.88[ASN][1000 genomes]
rs2058395	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs210591	0.81[EUR][1000 genomes]
rs210593	0.81[EUR][1000 genomes]
rs210598	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs210600	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs210603	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2159679	0.88[ASN][1000 genomes]
rs2253711	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes]
rs2270162	0.81[JPT][hapmap]
rs2533432	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2533434	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2533440	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2533446	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2533447	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2533449	0.85[EUR][1000 genomes]
rs2533456	0.82[AMR][1000 genomes]
rs2851485	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2851488	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2851500	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2851504	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2851509	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2851512	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2851517	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2903097	0.87[ASN][1000 genomes]
rs34249708	0.87[ASN][1000 genomes]
rs35322474	0.86[ASN][1000 genomes]
rs4717521	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs521259	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs563740	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs588004	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs595681	0.94[TSI][hapmap]
rs60739014	0.94[ASN][1000 genomes]
rs608796	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs610930	0.94[TSI][hapmap]
rs611052	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs611573	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs622767	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs624626	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6460528	0.89[ASN][1000 genomes]
rs674865	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6955815	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6957302	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6963101	0.87[ASN][1000 genomes]
rs6974004	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs720056	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs763759	0.88[ASN][1000 genomes]
rs7781403	0.94[ASN][1000 genomes]
rs7793984	0.96[ASN][1000 genomes]
rs7801117	0.82[CEU][hapmap]
rs7808773	0.88[ASN][1000 genomes]
rs917616	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9332399	0.82[CEU][hapmap]
rs9638575	0.87[ASN][1000 genomes]
rs9692258	0.82[AMR][1000 genomes]
rs981291	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs988282	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[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	nsv916011	chr7:68942155-69330800	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv831021	chr7:69122169-69364491	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1021538	chr7:69130236-69575753	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv538917	chr7:69130236-69575753	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv817276	chr7:69130237-69736834	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1018749	chr7:69149029-69995112	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69246600-69252800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:69246600-69253200	Weak transcription	HSMMtube	muscle
3	chr7:69246800-69253200	Weak transcription	Fetal Kidney	kidney
4	chr7:69246800-69256200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:69247000-69264400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr7:69247200-69262200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr7:69248400-69252600	Weak transcription	Left Ventricle	heart
8	chr7:69248400-69252800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr7:69249200-69253200	Weak transcription	Stomach Smooth Muscle	stomach
10	chr7:69249200-69253200	Weak transcription	NHDF-Ad	bronchial
11	chr7:69249400-69252600	Weak transcription	Brain Cingulate Gyrus	brain
12	chr7:69249400-69253200	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr7:69249600-69252600	Weak transcription	Brain Anterior Caudate	brain
14	chr7:69249600-69253000	Weak transcription	Fetal Heart	heart
15	chr7:69249600-69254000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr7:69249600-69255800	Weak transcription	Right Atrium	heart
17	chr7:69249600-69258800	Weak transcription	Rectal Smooth Muscle	rectum
18	chr7:69249800-69252800	Weak transcription	Brain Hippocampus Middle	brain
19	chr7:69249800-69252800	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr7:69249800-69252800	Weak transcription	Brain Substantia Nigra	brain
21	chr7:69249800-69252800	Weak transcription	Fetal Lung	lung
22	chr7:69249800-69252800	Weak transcription	Fetal Stomach	stomach
23	chr7:69249800-69269600	Weak transcription	Brain Angular Gyrus	brain
24	chr7:69250000-69252600	Weak transcription	Fetal Muscle Leg	muscle
25	chr7:69250000-69252800	Weak transcription	Ovary	ovary
26	chr7:69250000-69253000	Weak transcription	Fetal Brain Male	brain
27	chr7:69250000-69253200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr7:69250000-69253200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr7:69250200-69253400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr7:69250200-69261200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr7:69250600-69252600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr7:69250600-69254200	Weak transcription	Fetal Brain Female	brain
33	chr7:69250600-69255800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr7:69250800-69252600	Weak transcription	Brain Germinal Matrix	brain
35	chr7:69250800-69253200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr7:69251600-69252400	Enhancers	GM12878-XiMat	blood
37	chr7:69252000-69252400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr7:69252000-69253400	Enhancers	Colon Smooth Muscle	Colon
39	chr7:69252000-69253400	Enhancers	Psoas Muscle	Psoas
40	chr7:69252000-69254200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr7:69252200-69252600	Weak transcription	Adipose Nuclei	Adipose
42	chr7:69252200-69252600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr7:69252200-69254800	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr7:69252200-69256600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr7:69252200-69256800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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