Variant report

Variant	rs10951638
Chromosome Location	chr7:40741412-40741413
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10250246	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10486813	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1146040	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1203725	0.90[ASN][1000 genomes]
rs1203726	0.90[ASN][1000 genomes]
rs1203727	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1203728	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1203730	0.89[ASN][1000 genomes]
rs1203733	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1203734	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1203739	0.82[EUR][1000 genomes]
rs13235741	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17171762	0.88[ASN][1000 genomes]
rs17171763	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17171764	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1921750	0.89[ASN][1000 genomes]
rs2011636	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35428147	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4050983	0.88[ASN][1000 genomes]
rs57655172	0.90[ASN][1000 genomes]
rs62451217	0.84[ASN][1000 genomes]
rs62451219	0.88[ASN][1000 genomes]
rs6462987	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6959899	0.93[ASN][1000 genomes]
rs6965055	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6978898	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73310278	0.88[ASN][1000 genomes]
rs73310281	0.89[ASN][1000 genomes]
rs7808606	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030648	chr7:40218618-41032599	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv887987	chr7:40505382-40748650	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1025605	chr7:40623026-40789063	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv538823	chr7:40623026-40789063	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1019833	chr7:40649369-40767377	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv538824	chr7:40649369-40767377	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv887988	chr7:40685811-40782572	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:40737200-40742200	Enhancers	Osteobl	bone
2	chr7:40737200-40742400	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr7:40738400-40746000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr7:40739400-40741800	Enhancers	Muscle Satellite Cultured Cells	--
5	chr7:40739600-40741600	Enhancers	Dnd41	blood
6	chr7:40739600-40742200	Enhancers	Primary T cells from cord blood	blood
7	chr7:40739800-40741600	Enhancers	H1 Cell Line	embryonic stem cell
8	chr7:40739800-40741600	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr7:40739800-40741800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr7:40739800-40742400	Enhancers	HMEC	breast
11	chr7:40740000-40742400	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr7:40740200-40741800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr7:40740200-40741800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr7:40740200-40742200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr7:40740200-40742400	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr7:40740400-40741600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr7:40740400-40742200	Enhancers	HSMMtube	muscle
18	chr7:40740400-40742200	Enhancers	NHDF-Ad	bronchial
19	chr7:40740600-40741800	Enhancers	Fetal Heart	heart
20	chr7:40740600-40742400	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr7:40740600-40744000	Weak transcription	Right Atrium	heart
22	chr7:40740600-40750600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr7:40741000-40742000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr7:40741200-40749000	Weak transcription	Aorta	Aorta

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