Variant report

Variant	rs210593
Chromosome Location	chr7:69244312-69244313
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 125 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:119)

rs_ID	r²[population]
rs1014417	0.90[AFR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10245786	0.90[ASN][1000 genomes]
rs10257549	0.82[ASN][1000 genomes]
rs10259748	0.90[AFR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10452738	0.82[ASN][1000 genomes]
rs11508453	0.87[ASN][1000 genomes]
rs11763186	0.91[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs11974201	0.87[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs11978431	0.82[ASN][1000 genomes]
rs11983891	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12333974	0.90[ASN][1000 genomes]
rs12698813	0.83[ASN][1000 genomes]
rs12698816	0.81[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs12698825	0.84[ASN][1000 genomes]
rs12698830	0.82[ASN][1000 genomes]
rs13226538	0.82[ASN][1000 genomes]
rs13232095	0.80[EUR][1000 genomes]
rs17140933	0.89[AFR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17140980	0.89[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs17140982	0.90[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs1860488	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1985165	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2098116	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs210591	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs210594	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs210596	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs210598	0.81[EUR][1000 genomes]
rs210599	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs210601	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs210603	0.80[EUR][1000 genomes]
rs210604	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs210606	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2533427	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2533428	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2533429	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2533430	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2533431	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2533433	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2533435	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2533441	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2533442	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2533444	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2533448	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2533449	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2533451	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2533452	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2533458	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2851483	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2851484	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2851487	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2851489	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2851490	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2851492	0.82[EUR][1000 genomes]
rs2851496	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2851497	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2851498	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2851501	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2851503	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2851505	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2851506	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2851507	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2851508	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2851510	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2851511	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2851514	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2851515	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2851516	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2865805	0.87[ASN][1000 genomes]
rs28770244	0.82[ASN][1000 genomes]
rs34221396	0.89[AFR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35696945	0.83[ASN][1000 genomes]
rs3886905	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4717520	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4718906	0.87[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs5005279	0.96[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs505949	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs513150	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs532820	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs547630	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55990156	0.84[AFR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56302473	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs565505	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs576193	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs576293	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs585282	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs589983	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs590609	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs593063	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs595681	0.96[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60359704	0.81[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs610930	0.96[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61135042	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs626767	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs627981	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs645245	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6460523	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6460532	0.82[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs646233	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs649200	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6943309	0.82[AFR][1000 genomes]
rs6951921	0.82[ASN][1000 genomes]
rs6957302	0.80[EUR][1000 genomes]
rs6959766	0.81[EUR][1000 genomes]
rs6961164	0.85[ASN][1000 genomes]
rs6963882	0.90[AFR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6966036	0.86[ASN][1000 genomes]
rs6978134	0.82[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs6979355	0.87[ASN][1000 genomes]
rs726372	0.89[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs7779010	0.90[ASN][1000 genomes]
rs7786073	0.81[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs7795152	0.81[ASN][1000 genomes]
rs7796973	0.81[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs7797340	0.82[ASN][1000 genomes]
rs7801117	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs7809145	0.91[AFR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7809934	0.85[ASN][1000 genomes]
rs877687	0.87[ASN][1000 genomes]
rs9332399	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.83[EUR][1000 genomes];0.95[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:50 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69234800-69245800	Weak transcription	Brain Cingulate Gyrus	brain
2	chr7:69237400-69246400	Weak transcription	Fetal Lung	lung
3	chr7:69237800-69246400	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr7:69238600-69245800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr7:69238800-69245400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr7:69238800-69245600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr7:69238800-69246200	Weak transcription	Brain Hippocampus Middle	brain
8	chr7:69239000-69245400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:69239000-69245600	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr7:69239000-69245800	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr7:69239200-69245000	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr7:69239200-69245600	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr7:69240600-69245400	Weak transcription	Fetal Muscle Leg	muscle
14	chr7:69240600-69245400	Weak transcription	HSMM	muscle
15	chr7:69240600-69246000	Weak transcription	Rectal Smooth Muscle	rectum
16	chr7:69240800-69245400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr7:69240800-69245400	Weak transcription	HSMMtube	muscle
18	chr7:69240800-69245400	Weak transcription	NHEK	skin
19	chr7:69240800-69245600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr7:69240800-69245600	Weak transcription	Psoas Muscle	Psoas
21	chr7:69240800-69246200	Weak transcription	Fetal Muscle Trunk	muscle
22	chr7:69240800-69247000	Weak transcription	Left Ventricle	heart
23	chr7:69241000-69245400	Weak transcription	Stomach Smooth Muscle	stomach
24	chr7:69241000-69245600	Weak transcription	A549	lung
25	chr7:69241000-69245600	Weak transcription	NH-A	brain
26	chr7:69241000-69246200	Weak transcription	Colon Smooth Muscle	Colon
27	chr7:69241200-69244800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr7:69241200-69245200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr7:69241200-69245400	Weak transcription	Right Atrium	heart
30	chr7:69241200-69245800	Weak transcription	NHDF-Ad	bronchial
31	chr7:69241200-69246400	Weak transcription	Osteobl	bone
32	chr7:69241400-69245400	Weak transcription	Fetal Heart	heart
33	chr7:69242000-69245000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr7:69242200-69245800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr7:69242400-69245200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr7:69242400-69245600	Weak transcription	Ovary	ovary
37	chr7:69242400-69245800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr7:69242400-69246000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr7:69242400-69246000	Weak transcription	Adipose Nuclei	Adipose
40	chr7:69242800-69245000	Weak transcription	Placenta	Placenta
41	chr7:69242800-69246000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr7:69243000-69245400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr7:69243200-69246000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr7:69243600-69245200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr7:69243800-69245400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr7:69243800-69246200	Weak transcription	Fetal Brain Female	brain
47	chr7:69244000-69245400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr7:69244000-69245400	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr7:69244000-69245600	Weak transcription	GM12878-XiMat	blood
50	chr7:69244000-69246000	Weak transcription	Fetal Stomach	stomach

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