Variant report

Variant	rs10263499
Chromosome Location	chr7:104671659-104671660
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1011468	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10228174	0.91[EUR][1000 genomes]
rs10247691	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10252714	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1029596	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11978288	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11981882	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12534212	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12705296	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2097942	0.82[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs2106500	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2299298	0.85[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs4602821	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4727618	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730066	0.93[ASN][1000 genomes]
rs56016333	0.86[ASN][1000 genomes]
rs6466035	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67665940	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6947388	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6950894	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6963395	0.82[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs6976394	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6980244	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7784126	0.90[EUR][1000 genomes]
rs888086	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9918494	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029283	chr7:104571741-104729168	Strong transcription Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	132 gene(s)	inside rSNPs	diseases
2	nsv888927	chr7:104614664-104781644	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
3	nsv608068	chr7:104622402-104757483	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	132 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104656600-104681800	Weak transcription	Fetal Muscle Trunk	muscle
2	chr7:104658600-104671800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr7:104658600-104673000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr7:104658600-104674000	Weak transcription	Fetal Thymus	thymus
5	chr7:104658600-104674200	Weak transcription	Fetal Muscle Leg	muscle
6	chr7:104658600-104681200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr7:104658600-104703800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr7:104658800-104681800	Weak transcription	Thymus	Thymus
9	chr7:104659800-104681200	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr7:104661800-104696000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr7:104662000-104672000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr7:104663200-104679400	Weak transcription	Fetal Brain Female	brain
13	chr7:104664400-104681200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr7:104665200-104679200	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr7:104665400-104673800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr7:104665600-104675800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr7:104665600-104681600	Weak transcription	NH-A	brain
18	chr7:104665600-104682200	Weak transcription	HMEC	breast
19	chr7:104665600-104682200	Weak transcription	HSMMtube	muscle
20	chr7:104665800-104674400	Weak transcription	Osteobl	bone
21	chr7:104666000-104674400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr7:104666400-104674400	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr7:104666400-104674400	Weak transcription	HSMM	muscle
24	chr7:104666400-104679600	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr7:104666400-104681000	Weak transcription	NHEK	skin
26	chr7:104666400-104681200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr7:104666400-104681400	Weak transcription	Colonic Mucosa	Colon
28	chr7:104666600-104676800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr7:104666800-104681600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr7:104667000-104674400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr7:104667000-104674800	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr7:104667000-104681000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr7:104667000-104681200	Weak transcription	HepG2	liver
34	chr7:104667200-104674000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr7:104667400-104681000	Weak transcription	Hela-S3	cervix
36	chr7:104667800-104673600	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr7:104667800-104676600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr7:104667800-104679400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr7:104668000-104673200	Weak transcription	K562	blood
40	chr7:104668000-104673800	Weak transcription	Brain Substantia Nigra	brain
41	chr7:104668000-104674200	Weak transcription	Brain Angular Gyrus	brain
42	chr7:104668000-104674400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr7:104668000-104674400	Weak transcription	Rectal Smooth Muscle	rectum
44	chr7:104668000-104674400	Weak transcription	Dnd41	blood
45	chr7:104668000-104676400	Weak transcription	NHLF	lung
46	chr7:104668200-104677000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr7:104668200-104679400	Weak transcription	Fetal Lung	lung
48	chr7:104668200-104685000	Weak transcription	HUVEC	blood vessel
49	chr7:104669000-104674000	Weak transcription	Gastric	stomach
50	chr7:104669200-104674000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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