Variant report

Variant	rs284658
Chromosome Location	chr19:41929988-41929989
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:41929779-41930148	K562	blood:	n/a	n/a
2	POLR2A	chr19:41929871-41930203	K562	blood:	n/a	n/a
3	POLR2A	chr19:41929835-41934317	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:41928996..41931842-chr19:41934329..41936851,2	MCF-7	breast:
2	chr19:41928851..41930811-chr19:41931132..41933140,2	K562	blood:
3	chr19:41915352..41917525-chr19:41928842..41931188,2	MCF-7	breast:
4	chr19:41917692..41924780-chr19:41925842..41930089,8	K562	blood:

Variant related genes	Relation type
ENSG00000268475	TF binding region
ENSG00000268475	Chromatin interaction
ENSG00000248098	Chromatin interaction
ENSG00000177191	Chromatin interaction

Extended variants
information (count: 99 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:99)

rs_ID	r²[population]
rs10409485	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10413735	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10416743	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10417311	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10417997	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10420556	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10422783	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10422956	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10432268	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1043413	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1077856	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10853751	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11083618	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11083619	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11667848	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11667908	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11668924	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11670583	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11670668	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11670725	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11670757	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11880539	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11883104	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12602	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12709849	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12980966	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12982607	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13344547	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13344563	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13345590	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13346603	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1473248	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs166925	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16975238	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17318596	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17318666	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1967333	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1967334	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2231940	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2241706	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2241707	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2241708	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2241709	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2241710	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2241711	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2288871	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2304242	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2317131	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2569400	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2569754	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs284648	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs284649	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs284650	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs284651	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs284652	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs284654	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs284655	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs284656	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs284657	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs284660	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs284661	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs284662	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs284663	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3213860	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3213861	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3745290	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3745292	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3786553	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3810174	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3810175	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3816037	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3826713	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4605279	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4674	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4802116	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4802117	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4802118	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4803461	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4803462	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4803463	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4803465	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4803467	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4803468	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4803469	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55986560	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58961854	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62117461	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62117462	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6508977	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7247332	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7255918	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7258973	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8103531	0.88[EUR][1000 genomes]
rs8105450	0.81[ASN][1000 genomes]
rs8105833	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs878082	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs878083	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs892044	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9304593	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs284658	B3GNT8	cis	Nerve Tibial	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41905000-41930800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr19:41913800-41932600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr19:41915200-41932600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr19:41915400-41932800	Weak transcription	Hela-S3	cervix
5	chr19:41915600-41932800	Weak transcription	NH-A	brain
6	chr19:41916000-41932000	Strong transcription	Fetal Stomach	stomach
7	chr19:41916000-41932400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr19:41916200-41932000	Weak transcription	HUVEC	blood vessel
9	chr19:41916400-41930800	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr19:41916400-41931600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr19:41916400-41932000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr19:41916400-41932600	Strong transcription	Primary B cells from peripheral blood	blood
13	chr19:41916400-41932800	Strong transcription	Brain Germinal Matrix	brain
14	chr19:41916400-41932800	Strong transcription	Fetal Brain Female	brain
15	chr19:41916400-41933000	Strong transcription	Thymus	Thymus
16	chr19:41916600-41930200	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr19:41916600-41930800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr19:41916600-41931200	Strong transcription	Rectal Smooth Muscle	rectum
19	chr19:41916600-41931400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr19:41916800-41930600	Strong transcription	Duodenum Smooth Muscle	Duodenum
21	chr19:41916800-41932200	Strong transcription	Primary T cells from cord blood	blood
22	chr19:41916800-41932200	Strong transcription	Ovary	ovary
23	chr19:41917000-41932000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr19:41918200-41932000	Weak transcription	NHEK	skin
25	chr19:41918200-41932200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr19:41918200-41932400	Weak transcription	Right Atrium	heart
27	chr19:41918200-41932800	Strong transcription	Brain Hippocampus Middle	brain
28	chr19:41918400-41932800	Strong transcription	Brain Cingulate Gyrus	brain
29	chr19:41918600-41932400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr19:41918600-41932800	Strong transcription	Brain Angular Gyrus	brain
31	chr19:41918800-41931600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr19:41918800-41932600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr19:41918800-41932800	Strong transcription	Brain Inferior Temporal Lobe	brain
34	chr19:41919000-41931000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr19:41919000-41931600	Strong transcription	Primary T helper cells PMA-I stimulated	--
36	chr19:41919200-41931800	Strong transcription	Cortex derived primary cultured neurospheres	brain
37	chr19:41919400-41930000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr19:41919800-41931400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr19:41921200-41933000	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr19:41921400-41932000	Strong transcription	Fetal Muscle Trunk	muscle
41	chr19:41921400-41932200	Weak transcription	NHDF-Ad	bronchial
42	chr19:41922400-41931000	Strong transcription	Gastric	stomach
43	chr19:41923000-41930200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr19:41924200-41931400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr19:41924200-41931400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr19:41924200-41932000	Strong transcription	Placenta Amnion	Placenta Amnion
47	chr19:41924400-41930800	Strong transcription	Aorta	Aorta
48	chr19:41924400-41931600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr19:41924400-41931800	Strong transcription	HUES6 Cell Line	embryonic stem cell
50	chr19:41924400-41932000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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