Variant report

Variant	rs61448706
Chromosome Location	chr8:61817983-61817984
allele	C/G
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]
rs10957168	0.96[ASN][1000 genomes]
rs11780935	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11783902	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11784276	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11784344	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11784761	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11787017	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12549487	0.96[ASN][1000 genomes]
rs16926569	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4314681	0.96[ASN][1000 genomes]
rs62525899	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62525901	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6993866	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6994028	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72652539	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7840653	0.96[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	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv526196	chr8:61593569-61877623	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	esv1795586	chr8:61733174-61863906	Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv429919	chr8:61771472-61979873	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv890947	chr8:61815886-61882751	Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61812200-61821200	Weak transcription	Right Atrium	heart
2	chr8:61815600-61818000	Weak transcription	Fetal Muscle Leg	muscle
3	chr8:61816800-61820600	Weak transcription	Small Intestine	intestine
4	chr8:61816800-61821200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr8:61816800-61821200	Weak transcription	Colonic Mucosa	Colon
6	chr8:61816800-61821200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr8:61816800-61821200	Weak transcription	NH-A	brain
8	chr8:61816800-61821400	Weak transcription	Osteobl	bone
9	chr8:61817000-61818000	Weak transcription	Fetal Thymus	thymus
10	chr8:61817000-61818000	Weak transcription	Pancreas	Pancrea
11	chr8:61817000-61820200	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr8:61817000-61820400	Weak transcription	Primary B cells from cord blood	blood
13	chr8:61817000-61821000	Weak transcription	Adipose Nuclei	Adipose
14	chr8:61817000-61821200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr8:61817000-61821200	Weak transcription	HSMM	muscle
16	chr8:61817000-61821400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr8:61817200-61818000	Weak transcription	Fetal Intestine Small	intestine
18	chr8:61817200-61820000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr8:61817200-61820200	Weak transcription	Primary B cells from peripheral blood	blood
20	chr8:61817200-61820400	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr8:61817200-61820600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr8:61817200-61820800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr8:61817200-61820800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr8:61817200-61820800	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr8:61817200-61820800	Weak transcription	Duodenum Mucosa	Duodenum
26	chr8:61817200-61820800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr8:61817200-61821000	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr8:61817200-61821000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr8:61817200-61821000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr8:61817200-61821000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr8:61817200-61821200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr8:61817200-61821200	Weak transcription	Fetal Lung	lung
33	chr8:61817400-61818600	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr8:61817400-61819400	Enhancers	GM12878-XiMat	blood
35	chr8:61817400-61820400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr8:61817400-61820800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr8:61817400-61820800	Weak transcription	HUVEC	blood vessel
38	chr8:61817400-61821000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr8:61817600-61818000	Weak transcription	Primary T cells from cord blood	blood
40	chr8:61817600-61818000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr8:61817600-61818000	Weak transcription	Fetal Intestine Large	intestine
42	chr8:61817600-61820200	Weak transcription	Stomach Mucosa	stomach
43	chr8:61817800-61821600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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