Variant report

Variant	rs1860488
Chromosome Location	chr7:69150131-69150132
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 126 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:116)

rs_ID	r²[population]
rs1014382	0.80[EUR][1000 genomes]
rs1014417	0.81[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs10245786	0.84[ASN][1000 genomes]
rs10259748	0.92[ASN][1000 genomes]
rs11508453	0.82[ASN][1000 genomes]
rs11763186	0.92[ASN][1000 genomes]
rs11983891	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12333974	0.84[ASN][1000 genomes]
rs12671695	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12698816	0.82[ASN][1000 genomes]
rs17140933	0.87[ASN][1000 genomes]
rs1985165	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2098116	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs210591	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs210593	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs210594	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs210596	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs210599	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs210601	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs210604	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs210606	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2533426	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2533427	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2533428	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2533429	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2533430	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2533431	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2533432	0.80[EUR][1000 genomes]
rs2533433	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2533434	0.80[EUR][1000 genomes]
rs2533435	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2533441	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2533442	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2533444	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2533448	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2533449	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2533451	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2533452	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2533454	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2533455	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2533457	0.83[AMR][1000 genomes]
rs2533458	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2851483	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2851484	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2851487	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2851488	0.82[EUR][1000 genomes]
rs2851489	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2851490	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2851491	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2851492	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2851496	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2851497	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2851498	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2851501	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2851503	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2851505	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2851506	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2851507	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2851508	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2851510	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2851511	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2851513	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2851514	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2851515	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2851516	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2851517	0.82[EUR][1000 genomes]
rs2865116	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2865805	0.82[ASN][1000 genomes]
rs34221396	0.82[ASN][1000 genomes]
rs3886905	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs41849	0.81[AMR][1000 genomes]
rs41852	0.81[AMR][1000 genomes]
rs4717520	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4718906	0.86[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs5005279	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs505949	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs513150	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs532820	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs547630	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55990156	0.92[ASN][1000 genomes]
rs56302473	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs565505	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs576193	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs576293	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs585282	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs588004	0.82[EUR][1000 genomes]
rs589983	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs590609	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs593063	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs595681	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs610930	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs611052	0.82[EUR][1000 genomes]
rs61135042	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs624626	0.82[EUR][1000 genomes]
rs626767	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs627981	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs645245	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6460523	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs646233	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs649200	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs674865	0.82[EUR][1000 genomes]
rs6944645	0.81[AMR][1000 genomes]
rs6963882	0.88[ASN][1000 genomes]
rs6966036	0.81[ASN][1000 genomes]
rs6974900	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6978134	0.83[ASN][1000 genomes]
rs6979355	0.82[ASN][1000 genomes]
rs726372	0.82[ASN][1000 genomes]
rs7779010	0.84[ASN][1000 genomes]
rs7786073	0.84[ASN][1000 genomes]
rs7796973	0.82[ASN][1000 genomes]
rs7801117	0.91[ASN][1000 genomes]
rs7809145	0.92[ASN][1000 genomes]
rs877687	0.82[ASN][1000 genomes]
rs917616	0.82[EUR][1000 genomes]
rs9332399	0.81[AFR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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
10	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:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69139800-69150800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:69143800-69151600	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr7:69143800-69156600	Weak transcription	Left Ventricle	heart
4	chr7:69144000-69150200	Weak transcription	Right Atrium	heart
5	chr7:69144200-69150200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr7:69144200-69150200	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr7:69144400-69150200	Weak transcription	Brain Angular Gyrus	brain
8	chr7:69144400-69152800	Weak transcription	Rectal Smooth Muscle	rectum
9	chr7:69146800-69150400	Enhancers	Brain Germinal Matrix	brain
10	chr7:69147200-69151000	Enhancers	GM12878-XiMat	blood
11	chr7:69147600-69150200	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr7:69147600-69150800	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr7:69147800-69150400	Enhancers	Fetal Brain Female	brain
14	chr7:69147800-69150600	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr7:69147800-69151000	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr7:69148000-69152800	Weak transcription	Fetal Heart	heart
17	chr7:69148400-69155400	Weak transcription	Lung	lung
18	chr7:69148400-69166200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr7:69148600-69151000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr7:69148800-69150200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr7:69148800-69150400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr7:69148800-69150600	Enhancers	Brain Anterior Caudate	brain
23	chr7:69148800-69150600	Enhancers	Dnd41	blood
24	chr7:69149000-69150800	Enhancers	Fetal Lung	lung
25	chr7:69149000-69151000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr7:69149000-69151000	Enhancers	Brain Hippocampus Middle	brain
27	chr7:69149000-69151000	Enhancers	Ovary	ovary
28	chr7:69149000-69151400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr7:69149200-69150200	Enhancers	Fetal Stomach	stomach
30	chr7:69149200-69150400	Enhancers	Fetal Kidney	kidney
31	chr7:69149200-69150400	Enhancers	Fetal Muscle Leg	muscle
32	chr7:69149200-69150800	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr7:69149200-69151000	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr7:69149200-69151000	Enhancers	Brain Substantia Nigra	brain
35	chr7:69149200-69151200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr7:69149400-69151000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr7:69149400-69155400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr7:69149600-69150400	Enhancers	Primary hematopoietic stem cells	blood
39	chr7:69149600-69150600	Enhancers	Adipose Nuclei	Adipose
40	chr7:69149800-69150200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr7:69149800-69150400	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr7:69149800-69150400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
43	chr7:69149800-69150600	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr7:69149800-69150600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr7:69149800-69150600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr7:69149800-69150600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr7:69149800-69150600	Enhancers	Colon Smooth Muscle	Colon
48	chr7:69149800-69151000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr7:69150000-69150200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr7:69150000-69150200	Enhancers	iPS-15b Cell Line	embryonic stem cell

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