Variant report

Variant	rs674865
Chromosome Location	chr7:69166762-69166763
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 98 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs1008379	0.80[ASN][1000 genomes]
rs10085775	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1014382	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10237145	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10241485	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10950191	0.80[AMR][1000 genomes]
rs11765886	0.94[ASN][1000 genomes]
rs12333508	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12531914	0.80[AMR][1000 genomes]
rs12698812	0.83[ASN][1000 genomes]
rs12698814	0.83[ASN][1000 genomes]
rs12698815	0.87[ASN][1000 genomes]
rs12698820	0.81[ASN][1000 genomes]
rs13232095	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13236841	0.85[ASN][1000 genomes]
rs1468588	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17353815	0.89[ASN][1000 genomes]
rs17458097	0.88[ASN][1000 genomes]
rs1860488	0.82[EUR][1000 genomes]
rs2058395	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs210598	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs210600	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs210603	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2159679	0.80[ASN][1000 genomes]
rs2253711	0.85[AMR][1000 genomes]
rs2533427	0.82[EUR][1000 genomes]
rs2533428	0.82[EUR][1000 genomes]
rs2533429	0.82[EUR][1000 genomes]
rs2533430	0.82[EUR][1000 genomes]
rs2533431	0.82[EUR][1000 genomes]
rs2533432	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2533433	0.82[EUR][1000 genomes]
rs2533434	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2533435	0.81[EUR][1000 genomes]
rs2533440	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2533446	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2533447	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2533449	0.94[EUR][1000 genomes]
rs2533456	0.84[AMR][1000 genomes]
rs2533458	0.81[EUR][1000 genomes]
rs2851483	0.81[EUR][1000 genomes]
rs2851484	0.82[EUR][1000 genomes]
rs2851485	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2851488	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2851500	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2851504	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2851509	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2851512	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2851514	0.81[EUR][1000 genomes]
rs2851515	0.82[EUR][1000 genomes]
rs2851516	0.82[EUR][1000 genomes]
rs2851517	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41851	0.80[AMR][1000 genomes]
rs4717521	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs505949	0.82[EUR][1000 genomes]
rs513150	0.82[EUR][1000 genomes]
rs521259	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs532820	0.81[EUR][1000 genomes]
rs547630	0.82[EUR][1000 genomes]
rs563740	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs565505	0.82[EUR][1000 genomes]
rs576193	0.82[EUR][1000 genomes]
rs588004	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60739014	0.94[ASN][1000 genomes]
rs608796	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs611052	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs611573	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs622767	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs624626	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs626767	0.82[EUR][1000 genomes]
rs627981	0.82[EUR][1000 genomes]
rs645245	0.83[EUR][1000 genomes]
rs6460528	0.89[ASN][1000 genomes]
rs646233	0.82[EUR][1000 genomes]
rs649200	0.81[EUR][1000 genomes]
rs6955815	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6957302	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6959766	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6974004	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs720056	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs758680	0.82[AMR][1000 genomes]
rs763759	0.88[ASN][1000 genomes]
rs7781403	0.94[ASN][1000 genomes]
rs7793984	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7808773	0.80[ASN][1000 genomes]
rs917616	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9638575	0.87[ASN][1000 genomes]
rs9692258	0.84[AMR][1000 genomes]
rs981291	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs988282	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv428169	chr7:69021482-69196743	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
7	nsv1034380	chr7:69137914-69171449	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
8	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:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69153600-69167400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr7:69157200-69167800	Weak transcription	Fetal Stomach	stomach
3	chr7:69159200-69167800	Weak transcription	Fetal Lung	lung
4	chr7:69161400-69171000	Weak transcription	Left Ventricle	heart
5	chr7:69161400-69171200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:69161600-69166800	Weak transcription	Brain Anterior Caudate	brain
7	chr7:69161600-69173400	Weak transcription	Right Atrium	heart
8	chr7:69161800-69167600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr7:69161800-69170400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr7:69162000-69186200	Weak transcription	Primary B cells from cord blood	blood
11	chr7:69162200-69170800	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr7:69162400-69168000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr7:69162600-69168800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr7:69162800-69168000	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr7:69163000-69167400	Weak transcription	Colon Smooth Muscle	Colon
16	chr7:69163600-69166800	Weak transcription	Dnd41	blood
17	chr7:69163600-69174000	Weak transcription	Fetal Thymus	thymus
18	chr7:69163800-69171000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr7:69165000-69168400	Enhancers	Fetal Brain Female	brain
20	chr7:69165400-69167800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr7:69165400-69169200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr7:69165600-69167400	Enhancers	Fetal Brain Male	brain
23	chr7:69166000-69167000	Weak transcription	Brain Germinal Matrix	brain
24	chr7:69166000-69168600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr7:69166200-69167600	Weak transcription	GM12878-XiMat	blood
26	chr7:69166200-69169200	Enhancers	Brain Hippocampus Middle	brain
27	chr7:69166400-69167600	Weak transcription	Rectal Smooth Muscle	rectum
28	chr7:69166400-69167800	Enhancers	Brain Substantia Nigra	brain
29	chr7:69166400-69168600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr7:69166400-69168600	Enhancers	Brain Angular Gyrus	brain
31	chr7:69166400-69169200	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr7:69166600-69168000	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr7:69166600-69169000	Enhancers	Brain Cingulate Gyrus	brain
34	chr7:69166600-69175400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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