Variant report

Variant	rs6986338
Chromosome Location	chr8:42722541-42722542
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10087388	0.95[ASN][1000 genomes]
rs10107370	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10107916	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1081884	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1081885	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1081886	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13261180	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1620525	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1625050	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1648119	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1648120	0.90[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2042674	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2692077	0.83[ASN][1000 genomes]
rs28539345	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28688473	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4737080	0.83[AMR][1000 genomes]
rs773069	0.95[ASN][1000 genomes]
rs773070	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs773071	0.92[ASN][1000 genomes]
rs773072	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7812948	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7815800	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7825957	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7831069	0.92[ASN][1000 genomes]
rs7835435	1.00[ASN][1000 genomes]
rs7841832	0.81[ASN][1000 genomes]
rs798827	0.83[AMR][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	nsv530880	chr8:41895241-42755506	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv1034724	chr8:42386707-42772203	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
3	nsv428516	chr8:42577171-42731235	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
4	nsv890846	chr8:42625663-43240123	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
5	nsv1024688	chr8:42709414-43333639	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
6	nsv539563	chr8:42709414-43333639	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:42699200-42736400	Weak transcription	Thymus	Thymus
2	chr8:42699400-42728600	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr8:42699400-42733200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr8:42699400-42741000	Weak transcription	HepG2	liver
5	chr8:42699400-42745800	Weak transcription	Fetal Heart	heart
6	chr8:42699400-42745800	Weak transcription	Small Intestine	intestine
7	chr8:42699400-42750600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:42699600-42724800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr8:42699600-42748600	Weak transcription	HMEC	breast
10	chr8:42708400-42731600	Strong transcription	Placenta	Placenta
11	chr8:42708400-42749000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr8:42708800-42733200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr8:42709000-42723600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr8:42710000-42725800	Strong transcription	Fetal Intestine Large	intestine
15	chr8:42711400-42722600	Strong transcription	Fetal Muscle Trunk	muscle
16	chr8:42711400-42745800	Weak transcription	Stomach Mucosa	stomach
17	chr8:42711600-42748600	Weak transcription	Fetal Thymus	thymus
18	chr8:42712000-42725400	Strong transcription	Primary B cells from cord blood	blood
19	chr8:42712600-42746000	Weak transcription	NHDF-Ad	bronchial
20	chr8:42713200-42745800	Weak transcription	HUVEC	blood vessel
21	chr8:42713600-42722800	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr8:42713600-42725400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr8:42713600-42725400	Strong transcription	Skeletal Muscle Female	skeletal muscle
24	chr8:42714000-42725000	Weak transcription	GM12878-XiMat	blood
25	chr8:42714000-42740200	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr8:42714000-42744800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr8:42714000-42746200	Weak transcription	NHLF	lung
28	chr8:42714600-42748400	Weak transcription	Fetal Brain Male	brain
29	chr8:42714800-42741000	Weak transcription	Aorta	Aorta
30	chr8:42716800-42728000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr8:42716800-42730800	Weak transcription	Hela-S3	cervix
32	chr8:42717000-42748800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr8:42718000-42733000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr8:42718200-42733000	Weak transcription	A549	lung
35	chr8:42718200-42735200	Weak transcription	HSMMtube	muscle
36	chr8:42718400-42724800	Weak transcription	HSMM	muscle
37	chr8:42718400-42728800	Weak transcription	NHEK	skin
38	chr8:42718400-42733000	Weak transcription	Primary hematopoietic stem cells	blood
39	chr8:42718400-42740200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr8:42718600-42732800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr8:42718600-42736400	Weak transcription	Psoas Muscle	Psoas
42	chr8:42718600-42745800	Weak transcription	Colon Smooth Muscle	Colon
43	chr8:42719000-42724600	Weak transcription	Brain Substantia Nigra	brain
44	chr8:42719000-42733200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr8:42719200-42724000	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr8:42719200-42727800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr8:42719200-42745800	Weak transcription	Pancreas	Pancrea
48	chr8:42719400-42723400	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr8:42719400-42724200	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr8:42719400-42724400	Weak transcription	Brain Angular Gyrus	brain

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