Variant report

Variant	rs8105450
Chromosome Location	chr19:41886859-41886860
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:41886073..41888188-chr19:41891478..41893284,2	K562	blood:

Extended variants
information (count: 76 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10409485	0.85[ASN][1000 genomes]
rs10413735	0.85[ASN][1000 genomes]
rs10416743	0.85[ASN][1000 genomes]
rs10417311	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10417997	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10420556	0.81[EUR][1000 genomes]
rs10422783	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10422956	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1077856	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10853751	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11083618	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11083619	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11667848	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11667908	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11668924	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11670583	0.85[ASN][1000 genomes]
rs11670668	0.85[ASN][1000 genomes]
rs11670757	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11880539	0.84[ASN][1000 genomes]
rs11883104	0.84[ASN][1000 genomes]
rs12602	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13345590	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1473248	0.84[ASN][1000 genomes]
rs166925	0.83[ASN][1000 genomes]
rs1967333	0.83[ASN][1000 genomes]
rs1967334	0.85[ASN][1000 genomes]
rs2241706	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2241707	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2241708	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2241709	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2241710	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2241711	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2288871	0.84[ASN][1000 genomes]
rs2317131	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs284648	0.83[ASN][1000 genomes]
rs284649	0.83[ASN][1000 genomes]
rs284650	0.83[ASN][1000 genomes]
rs284651	0.82[ASN][1000 genomes]
rs284652	0.82[ASN][1000 genomes]
rs284654	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs284655	0.82[ASN][1000 genomes]
rs284656	0.82[ASN][1000 genomes]
rs284657	0.81[ASN][1000 genomes]
rs284658	0.81[ASN][1000 genomes]
rs3213860	0.85[ASN][1000 genomes]
rs3213861	0.85[ASN][1000 genomes]
rs3745290	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3745292	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3786553	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3810174	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3810175	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3816037	0.84[ASN][1000 genomes]
rs3826713	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4605279	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4674	0.81[ASN][1000 genomes]
rs4802116	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4802117	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4802118	0.84[ASN][1000 genomes]
rs4803461	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4803462	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4803463	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4803465	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4803467	0.84[ASN][1000 genomes]
rs4803468	0.84[ASN][1000 genomes]
rs4803469	0.84[ASN][1000 genomes]
rs62117461	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62117462	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6508977	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7247332	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7255918	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7258973	0.85[ASN][1000 genomes]
rs8103531	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8105833	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs878082	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs878083	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv996035	chr19:41881445-41887549	Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8105450	B3GNT8	cis	Nerve Tibial	GTEx

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41871200-41888600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr19:41871400-41888400	Weak transcription	Dnd41	blood
3	chr19:41880400-41894000	Weak transcription	HSMMtube	muscle
4	chr19:41882800-41895400	Weak transcription	Psoas Muscle	Psoas
5	chr19:41882800-41895600	Weak transcription	HSMM	muscle
6	chr19:41883000-41887600	Weak transcription	Fetal Intestine Small	intestine
7	chr19:41883000-41888000	Weak transcription	A549	lung
8	chr19:41883000-41888400	Weak transcription	Primary T cells from cord blood	blood
9	chr19:41883000-41890400	Weak transcription	Fetal Lung	lung
10	chr19:41883000-41891200	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr19:41883000-41891800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr19:41883000-41892600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr19:41883000-41895400	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr19:41883000-41895600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr19:41883000-41895600	Weak transcription	Aorta	Aorta
16	chr19:41883000-41896000	Weak transcription	Small Intestine	intestine
17	chr19:41883000-41896000	Weak transcription	HUVEC	blood vessel
18	chr19:41883000-41902800	Weak transcription	Stomach Mucosa	stomach
19	chr19:41883200-41888000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr19:41883200-41888000	Weak transcription	Brain Cingulate Gyrus	brain
21	chr19:41883200-41888400	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr19:41883200-41888400	Weak transcription	Left Ventricle	heart
23	chr19:41883200-41888600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr19:41883200-41888600	Weak transcription	Brain Angular Gyrus	brain
25	chr19:41883200-41888600	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr19:41883200-41888600	Weak transcription	Fetal Intestine Large	intestine
27	chr19:41883200-41888600	Weak transcription	Ovary	ovary
28	chr19:41883200-41889600	Weak transcription	Gastric	stomach
29	chr19:41883200-41890400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr19:41883200-41890400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr19:41883200-41891200	Weak transcription	Liver	Liver
32	chr19:41883200-41891200	Weak transcription	Placenta	Placenta
33	chr19:41883200-41891800	Weak transcription	Pancreas	Pancrea
34	chr19:41883200-41891800	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr19:41883200-41892000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr19:41883200-41892200	Weak transcription	Duodenum Mucosa	Duodenum
37	chr19:41883200-41892600	Weak transcription	NHLF	lung
38	chr19:41883200-41892800	Weak transcription	Brain Substantia Nigra	brain
39	chr19:41883200-41892800	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr19:41883200-41893200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr19:41883200-41893800	Weak transcription	Esophagus	oesophagus
42	chr19:41883200-41894000	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr19:41883200-41894200	Weak transcription	Rectal Smooth Muscle	rectum
44	chr19:41883200-41895400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr19:41883200-41895400	Weak transcription	Right Ventricle	heart
46	chr19:41883200-41895600	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr19:41883200-41896200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr19:41883200-41896200	Weak transcription	Colonic Mucosa	Colon
49	chr19:41883200-41896200	Weak transcription	Fetal Kidney	kidney
50	chr19:41883200-41897200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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