Variant report

Variant	rs210600
Chromosome Location	chr7:69238281-69238282
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs1008379	0.84[ASN][1000 genomes]
rs10085775	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1014382	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10237145	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10241485	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11765886	0.98[ASN][1000 genomes]
rs12333508	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12698812	0.87[ASN][1000 genomes]
rs12698814	0.87[ASN][1000 genomes]
rs12698815	0.91[ASN][1000 genomes]
rs12698820	0.85[ASN][1000 genomes]
rs13228464	0.82[ASN][1000 genomes]
rs13232095	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13236841	0.89[ASN][1000 genomes]
rs1468588	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17353815	0.94[ASN][1000 genomes]
rs17458097	0.92[ASN][1000 genomes]
rs2058395	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs210598	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs210603	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2159679	0.84[ASN][1000 genomes]
rs2253711	0.80[AMR][1000 genomes]
rs2533432	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2533434	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2533440	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2533446	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2533447	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2533449	0.81[EUR][1000 genomes]
rs2851485	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2851488	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2851500	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2851504	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2851509	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2851512	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2851517	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2903097	0.83[ASN][1000 genomes]
rs34249708	0.83[ASN][1000 genomes]
rs35322474	0.82[ASN][1000 genomes]
rs4717521	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs521259	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs563740	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs588004	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60739014	0.98[ASN][1000 genomes]
rs608796	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs611052	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs611573	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs622767	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs624626	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6460528	0.93[ASN][1000 genomes]
rs674865	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6955815	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6957302	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6959766	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6963101	0.83[ASN][1000 genomes]
rs6974004	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs720056	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs763759	0.92[ASN][1000 genomes]
rs7781403	0.98[ASN][1000 genomes]
rs7793984	1.00[ASN][1000 genomes]
rs7808773	0.84[ASN][1000 genomes]
rs917616	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9638575	0.91[ASN][1000 genomes]
rs981291	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs988282	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[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	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
7	esv3394718	chr7:69194534-69238432	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv1027399	chr7:69197011-69239721	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv538918	chr7:69197011-69239721	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69225200-69238800	Weak transcription	Primary B cells from cord blood	blood
2	chr7:69229800-69238600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:69233600-69240600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:69234000-69238600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:69234000-69238800	Weak transcription	Left Ventricle	heart
6	chr7:69234200-69238600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr7:69234600-69238400	Weak transcription	Brain Hippocampus Middle	brain
8	chr7:69234800-69238600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr7:69234800-69238600	Weak transcription	Pancreas	Pancrea
10	chr7:69234800-69245800	Weak transcription	Brain Cingulate Gyrus	brain
11	chr7:69235000-69238600	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr7:69235000-69238600	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr7:69235600-69238600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr7:69235600-69238600	Weak transcription	Fetal Heart	heart
15	chr7:69235800-69242000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr7:69236200-69242800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:69236200-69243400	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr7:69236400-69239200	Enhancers	Ovary	ovary
19	chr7:69236800-69238600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr7:69237000-69239200	Enhancers	Colon Smooth Muscle	Colon
21	chr7:69237000-69239400	Enhancers	Adipose Nuclei	Adipose
22	chr7:69237200-69239200	Enhancers	A549	lung
23	chr7:69237200-69239200	Enhancers	NHEK	skin
24	chr7:69237400-69238400	Weak transcription	Right Atrium	heart
25	chr7:69237400-69239000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr7:69237400-69239200	Enhancers	Rectal Smooth Muscle	rectum
27	chr7:69237400-69239400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr7:69237400-69240800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr7:69237400-69246400	Weak transcription	Fetal Lung	lung
30	chr7:69237600-69239200	Enhancers	Fetal Stomach	stomach
31	chr7:69237800-69238600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr7:69237800-69238800	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr7:69237800-69239200	Enhancers	Stomach Smooth Muscle	stomach
34	chr7:69237800-69246400	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr7:69238000-69239200	Enhancers	Fetal Muscle Leg	muscle
36	chr7:69238000-69241000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr7:69238200-69238400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
38	chr7:69238200-69239000	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr7:69238200-69239000	Enhancers	H1 Cell Line	embryonic stem cell
40	chr7:69238200-69239000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr7:69238200-69239000	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr7:69238200-69239000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr7:69238200-69239000	Enhancers	Brain Germinal Matrix	brain
44	chr7:69238200-69239000	Enhancers	Brain Substantia Nigra	brain
45	chr7:69238200-69239200	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr7:69238200-69239200	Enhancers	Fetal Muscle Trunk	muscle
47	chr7:69238200-69239200	Enhancers	Fetal Thymus	thymus
48	chr7:69238200-69239200	Enhancers	Skeletal Muscle Female	skeletal muscle

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