Variant report

Variant	rs4950030
Chromosome Location	chr1:97849885-97849886
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10875080	0.82[AMR][1000 genomes]
rs11580977	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11582179	0.84[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11588048	1.00[CHB][hapmap];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12738091	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12739046	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12740800	1.00[CHB][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12754968	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12756826	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2152878	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34011849	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34448971	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35398836	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35675942	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35767735	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4949947	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491816	chr1:97266403-98223619	Enhancers Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv530048	chr1:97457175-98031501	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1007950	chr1:97466488-98021146	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv533039	chr1:97665736-98343102	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv546865	chr1:97838887-97874663	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:97824400-97855000	Weak transcription	Lung	lung
2	chr1:97829200-97851000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr1:97831000-97874800	Weak transcription	HSMM	muscle
4	chr1:97832800-97861200	Weak transcription	Primary hematopoietic stem cells	blood
5	chr1:97837200-97877600	Weak transcription	Adipose Nuclei	Adipose
6	chr1:97841800-97850000	Weak transcription	HSMMtube	muscle
7	chr1:97843600-97851400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:97845400-97850000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr1:97846200-97853400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:97846200-97874200	Weak transcription	Primary T cells from cord blood	blood
11	chr1:97846600-97859800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr1:97846600-97860000	Weak transcription	Liver	Liver
13	chr1:97846600-97886800	Weak transcription	Dnd41	blood
14	chr1:97847200-97912600	Weak transcription	Primary B cells from cord blood	blood
15	chr1:97847600-97851000	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr1:97848400-97850000	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr1:97848400-97860000	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr1:97849200-97850000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr1:97849200-97850200	Enhancers	HMEC	breast
20	chr1:97849200-97850400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr1:97849200-97850600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:97849200-97850600	Enhancers	NHDF-Ad	bronchial
23	chr1:97849200-97850800	Enhancers	Muscle Satellite Cultured Cells	--
24	chr1:97849200-97851400	Enhancers	Osteobl	bone
25	chr1:97849200-97851800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr1:97849400-97850600	Enhancers	NHEK	skin
27	chr1:97849400-97850800	Enhancers	HUVEC	blood vessel
28	chr1:97849600-97850000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr1:97849600-97850000	Flanking Active TSS	NH-A	brain
30	chr1:97849600-97850600	Weak transcription	NHLF	lung
31	chr1:97849800-97850200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr1:97849800-97850200	Enhancers	Hela-S3	cervix
33	chr1:97849800-97851200	Weak transcription	Aorta	Aorta

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