Variant report

Variant	rs210598
Chromosome Location	chr7:69241558-69241559
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs1008379	0.82[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs10085775	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1014382	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10237145	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10241485	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11765886	0.91[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs12333508	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12698812	0.83[ASN][1000 genomes]
rs12698814	0.83[ASN][1000 genomes]
rs12698815	0.87[ASN][1000 genomes]
rs12698820	0.83[ASN][1000 genomes]
rs13228464	0.86[ASN][1000 genomes]
rs13232095	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13236841	0.87[ASN][1000 genomes]
rs1468588	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17353815	0.83[AFR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17458097	0.83[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs2058395	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs210591	0.81[EUR][1000 genomes]
rs210593	0.81[EUR][1000 genomes]
rs210596	0.81[EUR][1000 genomes]
rs210599	0.82[EUR][1000 genomes]
rs210600	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs210601	0.82[EUR][1000 genomes]
rs210603	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs210604	0.82[EUR][1000 genomes]
rs210606	0.82[EUR][1000 genomes]
rs2159679	0.82[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs2253711	0.83[AMR][1000 genomes]
rs2533432	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2533434	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2533440	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2533446	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2533447	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2533449	0.88[EUR][1000 genomes]
rs2533456	0.82[AMR][1000 genomes]
rs2851485	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2851488	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2851500	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2851504	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2851509	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2851512	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2851517	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2903097	0.87[ASN][1000 genomes]
rs34249708	0.82[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs35322474	0.81[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs4717521	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs521259	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs563740	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs588004	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60739014	0.82[AFR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs608796	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs611052	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs611573	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs622767	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs624626	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6460528	0.95[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs674865	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6955815	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6957302	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6959766	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6963101	0.87[ASN][1000 genomes]
rs6974004	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs720056	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs763759	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7781403	0.82[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs7793984	0.97[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs7808773	0.82[AFR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs917616	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9638575	0.87[ASN][1000 genomes]
rs9692258	0.82[AMR][1000 genomes]
rs981291	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs988282	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[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:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69234800-69245800	Weak transcription	Brain Cingulate Gyrus	brain
2	chr7:69235800-69242000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr7:69236200-69242800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:69236200-69243400	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr7:69237400-69246400	Weak transcription	Fetal Lung	lung
6	chr7:69237800-69246400	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr7:69238600-69242400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr7:69238600-69245800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr7:69238800-69245400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr7:69238800-69245600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr7:69238800-69246200	Weak transcription	Brain Hippocampus Middle	brain
12	chr7:69239000-69242000	Weak transcription	GM12878-XiMat	blood
13	chr7:69239000-69242400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr7:69239000-69245400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr7:69239000-69245600	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr7:69239000-69245800	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr7:69239200-69245000	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr7:69239200-69245600	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr7:69240200-69242800	Enhancers	Placenta	Placenta
20	chr7:69240400-69242400	Enhancers	Adipose Nuclei	Adipose
21	chr7:69240600-69242600	Weak transcription	Fetal Stomach	stomach
22	chr7:69240600-69245400	Weak transcription	Fetal Muscle Leg	muscle
23	chr7:69240600-69245400	Weak transcription	HSMM	muscle
24	chr7:69240600-69246000	Weak transcription	Rectal Smooth Muscle	rectum
25	chr7:69240800-69241600	Weak transcription	Ovary	ovary
26	chr7:69240800-69241800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr7:69240800-69243400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr7:69240800-69245400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr7:69240800-69245400	Weak transcription	HSMMtube	muscle
30	chr7:69240800-69245400	Weak transcription	NHEK	skin
31	chr7:69240800-69245600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr7:69240800-69245600	Weak transcription	Psoas Muscle	Psoas
33	chr7:69240800-69246200	Weak transcription	Fetal Muscle Trunk	muscle
34	chr7:69240800-69247000	Weak transcription	Left Ventricle	heart
35	chr7:69241000-69242400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr7:69241000-69245400	Weak transcription	Stomach Smooth Muscle	stomach
37	chr7:69241000-69245600	Weak transcription	A549	lung
38	chr7:69241000-69245600	Weak transcription	NH-A	brain
39	chr7:69241000-69246200	Weak transcription	Colon Smooth Muscle	Colon
40	chr7:69241200-69241600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr7:69241200-69241800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr7:69241200-69244800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr7:69241200-69245200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr7:69241200-69245400	Weak transcription	Right Atrium	heart
45	chr7:69241200-69245800	Weak transcription	NHDF-Ad	bronchial
46	chr7:69241200-69246400	Weak transcription	Osteobl	bone
47	chr7:69241400-69241800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr7:69241400-69245400	Weak transcription	Fetal Heart	heart

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