Variant report

Variant	rs1043413
Chromosome Location	chr19:41939297-41939298
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:21)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:21 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:41939026-41939357	GM12878	blood:	n/a	n/a
2	POLR2A	chr19:41938886-41939328	SK-N-MC	brain:	n/a	n/a
3	POLR2A	chr19:41936242-41939720	GM12878	blood:	n/a	n/a
4	POLR2A	chr19:41939084-41939374	A549	lung:	n/a	n/a
5	CCNT2	chr19:41939130-41939319	K562	blood:	n/a	n/a
6	POLR2A	chr19:41939184-41939736	GM12878	blood:	n/a	n/a
7	POLR2A	chr19:41939045-41939564	A549	lung:	n/a	n/a
8	POLR2A	chr19:41939070-41939506	GM12891	blood:	n/a	n/a
9	STAT5A	chr19:41938169-41939538	GM12878	blood:	n/a	chr19:41939348-41939360
10	POLR2A	chr19:41939095-41939336	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr19:41939266-41939588	K562	blood:	n/a	n/a
12	POLR2A	chr19:41939099-41939350	A549	lung:	n/a	n/a
13	POLR2A	chr19:41939079-41939396	A549	lung:	n/a	n/a
14	POLR2A	chr19:41939050-41939651	HL-60	blood:	n/a	n/a
15	POLR2A	chr19:41939040-41939737	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr19:41939020-41939616	ECC-1	luminal epithelium:	n/a	n/a
17	POLR2A	chr19:41936772-41939698	K562	blood:	n/a	n/a
18	POLR2A	chr19:41938965-41939773	K562	blood:	n/a	n/a
19	POLR2A	chr19:41937568-41939457	GM12892	blood:	n/a	n/a
20	POLR2A	chr19:41939032-41939424	A549	lung:	n/a	n/a
21	POLR2A	chr19:41939045-41939315	HCT-116	colon:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:41936622..41939586-chr19:41947612..41949294,2	K562	blood:
2	chr19:41936691..41939385-chr19:41940971..41942681,2	K562	blood:
3	chr19:41932057..41934259-chr19:41937890..41940958,3	MCF-7	breast:
4	chr19:41854997..41857882-chr19:41936473..41939434,2	K562	blood:

No data

Variant related genes	Relation type
B3GNT8	TF binding region
ENSG00000204978	Chromatin interaction
ENSG00000142046	Chromatin interaction
ENSG00000177191	Chromatin interaction
ENSG00000255730	Chromatin interaction
ENSG00000105341	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	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10413735	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10416743	0.85[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs10417311	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10417997	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10420556	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10422783	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10422956	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10432268	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1077856	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10853751	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11083618	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11083619	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11667848	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11667908	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11668924	0.82[EUR][1000 genomes]
rs11670583	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11670668	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11670725	0.85[EUR][1000 genomes]
rs11670757	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11880539	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.84[YRI][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11883104	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12602	0.92[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12709849	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12980966	0.82[ASN][1000 genomes]
rs13344547	0.92[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13344563	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13345590	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13346603	0.92[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1473248	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs166925	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16975238	0.96[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17318596	1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17318666	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1967333	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1967334	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2231940	0.92[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2241706	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2241707	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2241708	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2241709	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2241710	0.96[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2241711	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2288871	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2304242	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2304243	0.96[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.81[YRI][hapmap]
rs2317131	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2569400	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2569754	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs284648	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs284649	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs284650	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs284651	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs284652	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs284654	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs284655	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs284656	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs284657	0.90[CHB][hapmap];0.95[JPT][hapmap];0.85[YRI][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs284658	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs284660	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs284661	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs284662	0.96[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs284663	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3213860	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3213861	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3745290	0.96[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3745292	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3786553	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3810174	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3810175	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3816037	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3826713	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4605279	0.96[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4674	0.96[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4802116	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4802117	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4802118	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4803461	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4803462	0.89[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4803463	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4803465	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4803467	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4803468	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4803469	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55986560	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58961854	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62117461	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62117462	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6508977	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7247332	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7255918	0.83[ASN][1000 genomes]
rs7258973	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8103531	0.84[EUR][1000 genomes]
rs8105833	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs878082	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs878083	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs892044	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.82[EUR][1000 genomes]
rs9304593	0.96[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1043413	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	chr19:41934400-41939600	Strong transcription	Brain Germinal Matrix	brain
3	chr19:41934400-41945000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr19:41934600-41944200	Weak transcription	Fetal Brain Male	brain
5	chr19:41934800-41939600	Strong transcription	Fetal Brain Female	brain
6	chr19:41934800-41945400	Weak transcription	Small Intestine	intestine
7	chr19:41935000-41940000	Strong transcription	Fetal Stomach	stomach
8	chr19:41935000-41945000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr19:41936200-41940000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr19:41936400-41939400	Strong transcription	Cortex derived primary cultured neurospheres	brain
11	chr19:41936400-41939600	Strong transcription	Dnd41	blood
12	chr19:41936400-41939800	Strong transcription	NHEK	skin
13	chr19:41936600-41939400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr19:41936600-41939400	Strong transcription	Brain Anterior Caudate	brain
15	chr19:41936600-41939600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr19:41936600-41939600	Strong transcription	Primary B cells from peripheral blood	blood
17	chr19:41936600-41939600	Strong transcription	Rectal Mucosa Donor 29	rectum
18	chr19:41936600-41939800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr19:41936600-41940600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr19:41936600-41944200	Strong transcription	A549	lung
21	chr19:41936800-41939400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr19:41936800-41939400	Strong transcription	Duodenum Smooth Muscle	Duodenum
23	chr19:41936800-41939600	Strong transcription	H1 Cell Line	embryonic stem cell
24	chr19:41936800-41939600	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr19:41936800-41939600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
26	chr19:41936800-41939600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr19:41936800-41939600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr19:41936800-41939600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr19:41936800-41939600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr19:41936800-41939600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr19:41936800-41939600	Strong transcription	Colon Smooth Muscle	Colon
32	chr19:41936800-41939600	Strong transcription	Fetal Thymus	thymus
33	chr19:41936800-41939600	Strong transcription	Gastric	stomach
34	chr19:41936800-41939600	Strong transcription	Pancreas	Pancrea
35	chr19:41936800-41939800	Strong transcription	Adipose Nuclei	Adipose
36	chr19:41936800-41939800	Strong transcription	Placenta	Placenta
37	chr19:41936800-41939800	Strong transcription	Spleen	Spleen
38	chr19:41936800-41940000	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr19:41936800-41940400	Strong transcription	HUES48 Cell Line	embryonic stem cell
40	chr19:41936800-41940600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr19:41936800-41944200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr19:41936800-41944200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr19:41936800-41944200	Strong transcription	Primary T cells from cord blood	blood
44	chr19:41937000-41939400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
45	chr19:41937000-41939400	Strong transcription	Colonic Mucosa	Colon
46	chr19:41937000-41939400	Strong transcription	Esophagus	oesophagus
47	chr19:41937000-41939400	Strong transcription	Sigmoid Colon	Sigmoid Colon
48	chr19:41937000-41939600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr19:41937000-41939600	Genic enhancers	Right Ventricle	heart
50	chr19:41937000-41939800	Strong transcription	Lung	lung

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