Variant report

Variant	rs2189619
Chromosome Location	chr8:91059247-91059248
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10109454	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10956427	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1476590	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16786	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1805788	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1805793	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1805796	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1805801	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1805802	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1805806	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1805807	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1805809	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1805833	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1805841	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1805864	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1805868	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1805869	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1805889	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2107466	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2189618	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2293775	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4961165	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4961169	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7010210	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs709816	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs867185	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[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	nsv891183	chr8:90975550-91111193	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
2	esv2758164	chr8:91000786-91329669	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	esv2759628	chr8:91000786-91329669	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2189619	NBN	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:91015600-91066200	Weak transcription	Hela-S3	cervix
2	chr8:91018600-91065400	Weak transcription	HMEC	breast
3	chr8:91027600-91066800	Weak transcription	NHEK	skin
4	chr8:91029400-91066000	Weak transcription	HUVEC	blood vessel
5	chr8:91032000-91064000	Weak transcription	Fetal Brain Male	brain
6	chr8:91032000-91064800	Weak transcription	NHLF	lung
7	chr8:91033800-91064400	Weak transcription	NH-A	brain
8	chr8:91049600-91066800	Weak transcription	Brain Cingulate Gyrus	brain
9	chr8:91049800-91067200	Weak transcription	Osteobl	bone
10	chr8:91050200-91065000	Weak transcription	Small Intestine	intestine
11	chr8:91050200-91066800	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr8:91052000-91060200	Weak transcription	K562	blood
13	chr8:91052400-91061200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr8:91052400-91067200	Weak transcription	Brain Substantia Nigra	brain
15	chr8:91052400-91069200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr8:91052600-91067000	Weak transcription	Brain Angular Gyrus	brain
17	chr8:91053000-91065000	Weak transcription	Psoas Muscle	Psoas
18	chr8:91055600-91074600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr8:91055800-91067200	Weak transcription	NHDF-Ad	bronchial
20	chr8:91055800-91068000	Weak transcription	HSMM	muscle
21	chr8:91056600-91059400	ZNF genes & repeats	Fetal Muscle Leg	muscle
22	chr8:91056600-91067000	Weak transcription	Fetal Heart	heart
23	chr8:91056800-91063400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr8:91057200-91066400	Weak transcription	GM12878-XiMat	blood
25	chr8:91057800-91059600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr8:91057800-91059800	Weak transcription	Gastric	stomach
27	chr8:91057800-91061200	Weak transcription	Esophagus	oesophagus
28	chr8:91057800-91093600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr8:91058000-91066000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr8:91058000-91067200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr8:91058000-91071400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr8:91058000-91085800	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr8:91058200-91059800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr8:91058200-91059800	Weak transcription	Colonic Mucosa	Colon
35	chr8:91058200-91067400	Weak transcription	Fetal Kidney	kidney
36	chr8:91058200-91080200	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr8:91058400-91065000	Weak transcription	Thymus	Thymus
38	chr8:91058400-91066800	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr8:91058400-91067000	Weak transcription	Pancreas	Pancrea
40	chr8:91058400-91067000	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr8:91058400-91067600	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr8:91058400-91067600	Weak transcription	Aorta	Aorta
43	chr8:91058400-91068200	Weak transcription	Lung	lung
44	chr8:91058400-91069000	Weak transcription	Placenta	Placenta
45	chr8:91058600-91060200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr8:91058600-91060800	Weak transcription	Fetal Stomach	stomach
47	chr8:91058600-91061000	Weak transcription	Primary hematopoietic stem cells	blood
48	chr8:91058600-91061800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr8:91058600-91062000	Weak transcription	Fetal Intestine Large	intestine
50	chr8:91058600-91063200	Weak transcription	Sigmoid Colon	Sigmoid Colon

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