Variant report

Variant	rs2851517
Chromosome Location	chr7:69141402-69141403
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 104 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs1008379	0.80[ASN][1000 genomes]
rs10085775	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1014382	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10237145	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10241485	0.95[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	0.96[AFR][1000 genomes];0.97[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]
rs13232095	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13236841	0.85[ASN][1000 genomes]
rs1468588	0.98[AFR][1000 genomes];0.95[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	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs210598	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs210600	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs210603	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2159679	0.80[ASN][1000 genomes]
rs2253711	0.82[CEU][hapmap];0.92[CHB][hapmap];0.92[JPT][hapmap];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	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2533433	0.82[EUR][1000 genomes]
rs2533434	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2533435	0.81[EUR][1000 genomes]
rs2533440	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2533446	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2533447	0.92[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	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2851488	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2851500	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2851504	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2851509	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2851512	0.93[AFR][1000 genomes];0.97[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]
rs41851	0.80[AMR][1000 genomes]
rs4717521	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5005279	0.83[CEU][hapmap]
rs505949	0.82[EUR][1000 genomes]
rs513150	0.82[EUR][1000 genomes]
rs521259	0.88[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	0.92[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]
rs585282	0.81[JPT][hapmap]
rs588004	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs595681	0.83[CEU][hapmap];0.83[GIH][hapmap];0.81[JPT][hapmap];0.94[TSI][hapmap]
rs60739014	0.94[ASN][1000 genomes]
rs608796	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs610930	0.83[CEU][hapmap];0.83[GIH][hapmap];0.81[JPT][hapmap];0.94[TSI][hapmap]
rs611052	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs611573	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs622767	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs624626	1.00[AFR][1000 genomes];1.00[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]
rs674865	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6955815	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6957302	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6959766	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6974004	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs720056	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs758680	0.84[AMR][1000 genomes]
rs763759	0.88[ASN][1000 genomes]
rs7781403	0.94[ASN][1000 genomes]
rs7793984	0.96[ASN][1000 genomes]
rs7801117	0.81[JPT][hapmap]
rs7808773	0.80[ASN][1000 genomes]
rs917616	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9332399	0.81[JPT][hapmap]
rs9638575	0.87[ASN][1000 genomes]
rs9692258	0.84[AMR][1000 genomes]
rs981291	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs988282	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023885	chr7:68894896-69158290	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv538915	chr7:68894896-69158290	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
7	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
8	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
9	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69125000-69142000	Weak transcription	Fetal Stomach	stomach
2	chr7:69125000-69142400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr7:69135400-69141600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr7:69135400-69142800	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr7:69136400-69142400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr7:69136800-69142200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr7:69138000-69143200	Weak transcription	Left Ventricle	heart
8	chr7:69138400-69142400	Weak transcription	Rectal Smooth Muscle	rectum
9	chr7:69138600-69141800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr7:69138600-69142200	Weak transcription	Brain Hippocampus Middle	brain
11	chr7:69138600-69142600	Weak transcription	Fetal Brain Male	brain
12	chr7:69138600-69143200	Weak transcription	Right Atrium	heart
13	chr7:69138800-69141800	Weak transcription	Fetal Brain Female	brain
14	chr7:69139200-69141800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr7:69139400-69142200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr7:69139400-69142400	Weak transcription	Brain Germinal Matrix	brain
17	chr7:69139400-69143200	Weak transcription	Brain Angular Gyrus	brain
18	chr7:69139800-69150800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:69140000-69142400	Weak transcription	Brain Anterior Caudate	brain
20	chr7:69140200-69142000	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr7:69140200-69142000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr7:69140200-69142200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr7:69140200-69142200	Weak transcription	Colon Smooth Muscle	Colon
24	chr7:69140200-69142400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr7:69140200-69142400	Weak transcription	Adipose Nuclei	Adipose
26	chr7:69140200-69142400	Weak transcription	Brain Cingulate Gyrus	brain
27	chr7:69140200-69142400	Weak transcription	Brain Substantia Nigra	brain
28	chr7:69140200-69142400	Weak transcription	Fetal Lung	lung
29	chr7:69140200-69142400	Weak transcription	Fetal Thymus	thymus
30	chr7:69140200-69142600	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr7:69140200-69142800	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr7:69140200-69142800	Weak transcription	Fetal Kidney	kidney
33	chr7:69140200-69143000	Weak transcription	Pancreas	Pancrea
34	chr7:69140200-69143000	Weak transcription	Stomach Smooth Muscle	stomach
35	chr7:69140400-69141800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr7:69140800-69142600	Weak transcription	Ovary	ovary
37	chr7:69140800-69143000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr7:69140800-69144000	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr7:69140800-69147800	Weak transcription	Lung	lung
40	chr7:69140800-69148200	Weak transcription	Esophagus	oesophagus
41	chr7:69141000-69141600	Flanking Active TSS	GM12878-XiMat	blood
42	chr7:69141000-69144400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr7:69141200-69141600	Enhancers	H1 Cell Line	embryonic stem cell
44	chr7:69141200-69143600	Weak transcription	Psoas Muscle	Psoas
45	chr7:69141200-69144000	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr7:69141200-69144200	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr7:69141200-69144400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr7:69141400-69141600	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr7:69141400-69141800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr7:69141400-69141800	Weak transcription	Cortex derived primary cultured neurospheres	brain

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