Variant report

Variant	rs4803469
Chromosome Location	chr19:41922775-41922776
allele	A/C
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	chr19:41922726-41923025	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:41917692..41924780-chr19:41925842..41930089,8	K562	blood:
2	chr19:41921214..41925672-chr19:41932377..41935763,4	MCF-7	breast:
3	chr19:41916289..41918502-chr19:41921403..41924039,2	MCF-7	breast:

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

Extended variants
information (count: 100 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:100)

rs_ID	r²[population]
rs10409485	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10413735	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10416743	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10417311	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10417997	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10420556	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10422783	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10422956	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10432268	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1043413	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1077856	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10853751	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11083618	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11083619	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11667848	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11667908	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11668924	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11670583	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11670668	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11670725	0.90[EUR][1000 genomes]
rs11670757	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11880539	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11883104	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12602	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12709849	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12980966	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12982607	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13344547	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13344563	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13345590	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13346603	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1473248	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs166925	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16975238	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17318596	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17318666	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1967333	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1967334	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2231935	0.80[AMR][1000 genomes]
rs2231940	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2241706	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2241707	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2241708	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2241709	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2241710	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2241711	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2288871	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2304242	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2317131	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2569400	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2569754	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs284648	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs284649	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs284650	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs284651	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs284652	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs284654	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs284655	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs284656	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs284657	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs284658	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs284660	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs284661	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs284662	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs284663	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3213860	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3213861	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3745290	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3745292	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3786553	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3810174	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3810175	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3816037	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3826713	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4605279	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4674	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4802116	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4802117	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4802118	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4803461	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4803462	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4803463	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4803465	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4803467	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4803468	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55986560	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58961854	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62117461	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62117462	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6508977	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7247332	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7255918	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7258973	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8103531	0.89[EUR][1000 genomes]
rs8105450	0.84[ASN][1000 genomes]
rs8105833	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs878082	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs878083	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs892044	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9304593	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4803469	B3GNT8	cis	Thyroid	GTEx
rs4803469	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	chr19:41904600-41924800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr19:41905000-41924800	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr19:41905000-41930800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr19:41905200-41926600	Weak transcription	Small Intestine	intestine
5	chr19:41913600-41925800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr19:41913800-41927000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr19:41913800-41932600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr19:41915200-41932600	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr19:41915400-41932800	Weak transcription	Hela-S3	cervix
10	chr19:41915600-41932800	Weak transcription	NH-A	brain
11	chr19:41916000-41924200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr19:41916000-41932000	Strong transcription	Fetal Stomach	stomach
13	chr19:41916000-41932400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr19:41916200-41926200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr19:41916200-41927000	Strong transcription	Placenta	Placenta
16	chr19:41916200-41928000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr19:41916200-41932000	Weak transcription	HUVEC	blood vessel
18	chr19:41916400-41922800	Weak transcription	Fetal Kidney	kidney
19	chr19:41916400-41925000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr19:41916400-41925200	Strong transcription	Liver	Liver
21	chr19:41916400-41928400	Weak transcription	K562	blood
22	chr19:41916400-41930800	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr19:41916400-41931600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr19:41916400-41932000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr19:41916400-41932600	Strong transcription	Primary B cells from peripheral blood	blood
26	chr19:41916400-41932800	Strong transcription	Brain Germinal Matrix	brain
27	chr19:41916400-41932800	Strong transcription	Fetal Brain Female	brain
28	chr19:41916400-41933000	Strong transcription	Thymus	Thymus
29	chr19:41916600-41923400	Strong transcription	Dnd41	blood
30	chr19:41916600-41925200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr19:41916600-41925600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr19:41916600-41926800	Strong transcription	Fetal Thymus	thymus
33	chr19:41916600-41929600	Strong transcription	Colon Smooth Muscle	Colon
34	chr19:41916600-41930200	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr19:41916600-41930800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr19:41916600-41931200	Strong transcription	Rectal Smooth Muscle	rectum
37	chr19:41916600-41931400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr19:41916800-41923600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr19:41916800-41925600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr19:41916800-41925800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr19:41916800-41926000	Strong transcription	Stomach Smooth Muscle	stomach
42	chr19:41916800-41926600	Strong transcription	Sigmoid Colon	Sigmoid Colon
43	chr19:41916800-41930600	Strong transcription	Duodenum Smooth Muscle	Duodenum
44	chr19:41916800-41932200	Strong transcription	Primary T cells from cord blood	blood
45	chr19:41916800-41932200	Strong transcription	Ovary	ovary
46	chr19:41917000-41927200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr19:41917000-41932000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr19:41917800-41924800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr19:41917800-41924800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr19:41918200-41923000	Strong transcription	Brain Substantia Nigra	brain

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