Variant report

Variant	rs2304242
Chromosome Location	chr19:41944616-41944617
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:41943693-41944907	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr19:41944277-41944629	HepG2	liver:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:41944180..41946970-chr7:80547778..80549990,2	MCF-7	breast:
2	chr19:41857565..41861683-chr19:41942530..41947234,4	MCF-7	breast:
3	chr19:41859512..41861303-chr19:41943975..41945825,3	K562	blood:
4	chr19:41944238..41947062-chr19:41948910..41951983,5	K562	blood:
5	chr19:41930070..41932098-chr19:41944342..41947114,3	K562	blood:
6	chr19:41931962..41935414-chr19:41944317..41947167,6	MCF-7	breast:
7	chr19:41868336..41870018-chr19:41944233..41946275,2	K562	blood:
8	chr19:41944280..41946189-chr19:42004239..42006678,2	K562	blood:
9	chr19:41932975..41939032-chr19:41942824..41947362,11	K562	blood:
10	chr19:41940773..41942496-chr19:41944318..41947193,2	MCF-7	breast:
11	chr19:41901938..41905441-chr19:41944047..41947443,5	K562	blood:
12	chr19:41868336..41871272-chr19:41944233..41948538,5	K562	blood:
13	chr19:41944614..41946975-chr19:41948804..41950642,2	MCF-7	breast:

No data

Variant related genes	Relation type
ATP5SL	TF binding region
C19orf69	TF binding region
ENSG00000177191	Chromatin interaction
ENSG00000075223	Chromatin interaction
ENSG00000268987	Chromatin interaction
ENSG00000105329	Chromatin interaction
ENSG00000267107	Chromatin interaction
ENSG00000204978	Chromatin interaction
ENSG00000248098	Chromatin interaction
ENSG00000123810	Chromatin interaction
ENSG00000105341	Chromatin interaction
ENSG00000077348	Chromatin interaction
ENSG00000142046	Chromatin interaction
ENSG00000268475	Chromatin interaction

Extended variants
information (count: 98 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:98)

rs_ID	r²[population]
rs10409485	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10413735	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10416743	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10417311	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10417997	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10420556	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10422783	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10422956	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10432268	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1043413	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1077856	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10853751	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11083618	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11083619	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11667848	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11667908	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11668924	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11670583	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11670668	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11670725	0.84[EUR][1000 genomes]
rs11670757	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11880539	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11883104	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12602	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12709849	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12980966	0.80[EUR][1000 genomes]
rs13344547	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13344563	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13345590	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13346603	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1473248	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs166925	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16975238	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17318596	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17318666	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1967333	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1967334	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2231935	0.82[AMR][1000 genomes]
rs2231940	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2241706	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2241707	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2241708	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2241709	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2241710	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2241711	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2288871	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2317131	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2569400	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2569754	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs284648	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs284649	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs284650	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs284651	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs284652	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs284654	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs284655	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs284656	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs284657	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs284658	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs284660	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs284661	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs284662	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs284663	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3213860	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3213861	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3745290	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3745292	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3786553	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3810174	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3810175	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3816037	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3826713	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4605279	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4674	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4802116	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4802117	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4802118	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4803461	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4803462	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4803463	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4803465	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4803467	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4803468	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4803469	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55986560	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58961854	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62117461	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62117462	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6508977	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7247332	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7255918	0.81[ASN][1000 genomes]
rs7258973	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8103531	0.84[EUR][1000 genomes]
rs8105833	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs878082	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs878083	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs892044	0.82[EUR][1000 genomes]
rs9304593	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2304242	B3GNT8	cis	Nerve Tibial	GTEx

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41934000-41944800	Weak transcription	Hela-S3	cervix
2	chr19:41934400-41945000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr19:41934800-41945400	Weak transcription	Small Intestine	intestine
4	chr19:41935000-41945000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr19:41938600-41945000	Weak transcription	HSMMtube	muscle
6	chr19:41938800-41944800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr19:41938800-41945000	Weak transcription	Fetal Kidney	kidney
8	chr19:41938800-41945000	Weak transcription	NHDF-Ad	bronchial
9	chr19:41938800-41945200	Weak transcription	Right Atrium	heart
10	chr19:41939000-41944800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr19:41939000-41944800	Weak transcription	NH-A	brain
12	chr19:41939000-41945000	Weak transcription	Primary B cells from cord blood	blood
13	chr19:41939200-41944800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr19:41939200-41944800	Weak transcription	Fetal Lung	lung
15	chr19:41939200-41944800	Weak transcription	HSMM	muscle
16	chr19:41939200-41945000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr19:41939200-41945000	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr19:41939400-41944800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr19:41939400-41944800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr19:41939400-41944800	Weak transcription	Liver	Liver
21	chr19:41939400-41944800	Weak transcription	HMEC	breast
22	chr19:41939400-41945000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr19:41939400-41945000	Weak transcription	Stomach Mucosa	stomach
24	chr19:41939400-41945200	Weak transcription	Colonic Mucosa	Colon
25	chr19:41939600-41944800	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr19:41939600-41944800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr19:41939600-41944800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr19:41939600-41944800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr19:41939600-41944800	Weak transcription	Fetal Thymus	thymus
30	chr19:41939600-41945000	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr19:41939600-41945200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr19:41939600-41945200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr19:41939600-41945400	Weak transcription	Gastric	stomach
34	chr19:41939800-41944800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr19:41940200-41944800	Weak transcription	K562	blood
36	chr19:41940400-41944800	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr19:41942400-41945200	Weak transcription	Aorta	Aorta
38	chr19:41942600-41945000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr19:41942800-41944800	Weak transcription	Rectal Smooth Muscle	rectum
40	chr19:41942800-41945000	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr19:41942800-41945200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr19:41943000-41944800	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr19:41943000-41944800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr19:41943000-41945000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr19:41943000-41945000	Weak transcription	Brain Anterior Caudate	brain
46	chr19:41943000-41945000	Weak transcription	Brain Cingulate Gyrus	brain
47	chr19:41943000-41945000	Weak transcription	Brain Substantia Nigra	brain
48	chr19:41943000-41945400	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr19:41943800-41944800	Weak transcription	Fetal Brain Female	brain
50	chr19:41943800-41945200	Enhancers	Primary T helper naive cells from peripheral blood	blood

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