Variant report

Variant	rs9568580
Chromosome Location	chr13:51938876-51938877
allele	A/G
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	chr13:51931455-51939276	K562	blood:	n/a	n/a
2	JUN	chr13:51938524-51938957	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr13:51938486-51939051	HUVEC	blood vessel:	n/a	n/a
4	GATA2	chr13:51938604-51939006	HUVEC	blood vessel:	n/a	n/a
5	POLR2A	chr13:51938717-51939161	Hela-S3	cervix:	n/a	n/a
6	MAFK	chr13:51938568-51938955	IMR90	lung:	n/a	n/a
7	FOS	chr13:51938501-51938964	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:51938430..51941174-chr13:51944104..51948197,3	MCF-7	breast:
2	chr13:51934866..51937282-chr13:51938805..51940585,2	K562	blood:

Variant related genes	Relation type
ENSG00000269965	TF binding region
ENSG00000270101	TF binding region
ENSG00000269965	Chromatin interaction

Extended variants
information (count: 126 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:126)

rs_ID	r²[population]
rs11148215	0.81[EUR][1000 genomes]
rs11148216	0.81[EUR][1000 genomes]
rs11148217	0.81[EUR][1000 genomes]
rs11148219	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11838784	0.81[EUR][1000 genomes]
rs11839165	0.81[EUR][1000 genomes]
rs11842573	0.81[EUR][1000 genomes]
rs11842878	0.81[EUR][1000 genomes]
rs11843638	0.81[EUR][1000 genomes]
rs11843641	0.81[EUR][1000 genomes]
rs12100084	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12100112	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12584325	0.81[EUR][1000 genomes]
rs12584416	0.81[EUR][1000 genomes]
rs12585171	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs12585343	0.81[EUR][1000 genomes]
rs12586110	0.81[EUR][1000 genomes]
rs1413103	0.81[EUR][1000 genomes]
rs1547710	0.89[CHB][hapmap];0.82[JPT][hapmap]
rs1570549	0.81[EUR][1000 genomes]
rs1570550	0.81[EUR][1000 genomes]
rs17194921	0.81[EUR][1000 genomes]
rs17194928	0.81[EUR][1000 genomes]
rs17194935	0.81[EUR][1000 genomes]
rs17194955	0.81[EUR][1000 genomes]
rs17194985	0.81[EUR][1000 genomes]
rs17195027	0.81[EUR][1000 genomes]
rs17252180	0.88[CHB][hapmap];0.82[JPT][hapmap]
rs17252193	0.89[CHB][hapmap];0.82[JPT][hapmap]
rs17252200	0.89[CHB][hapmap];0.83[CHD][hapmap];0.82[JPT][hapmap]
rs17790799	0.81[EUR][1000 genomes]
rs17790811	0.83[TSI][hapmap];0.81[EUR][1000 genomes]
rs17790838	0.81[EUR][1000 genomes]
rs17837214	0.89[CHB][hapmap];0.83[CHD][hapmap];0.82[JPT][hapmap]
rs17837215	0.89[CHB][hapmap];0.82[JPT][hapmap]
rs17837216	0.89[CHB][hapmap];0.82[JPT][hapmap]
rs17837217	0.89[CHB][hapmap];0.83[CHD][hapmap];0.82[JPT][hapmap]
rs4941699	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4942993	0.84[EUR][1000 genomes]
rs4942995	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4942996	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4942997	0.81[EUR][1000 genomes]
rs4942998	0.81[EUR][1000 genomes]
rs4942999	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59024783	0.81[EUR][1000 genomes]
rs59215783	0.81[EUR][1000 genomes]
rs60860538	0.81[EUR][1000 genomes]
rs61956888	0.81[EUR][1000 genomes]
rs61956889	0.81[EUR][1000 genomes]
rs61956909	0.81[EUR][1000 genomes]
rs61956910	0.81[EUR][1000 genomes]
rs61956912	0.81[EUR][1000 genomes]
rs61956913	0.81[EUR][1000 genomes]
rs61956914	0.81[EUR][1000 genomes]
rs61956915	0.81[EUR][1000 genomes]
rs61956916	0.81[EUR][1000 genomes]
rs61956917	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61956937	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61956938	0.81[EUR][1000 genomes]
rs61956942	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61956943	0.81[EUR][1000 genomes]
rs61956944	0.81[EUR][1000 genomes]
rs61956945	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61956947	0.81[EUR][1000 genomes]
rs61956949	0.81[EUR][1000 genomes]
rs61956950	0.81[EUR][1000 genomes]
rs61956951	0.81[EUR][1000 genomes]
rs61956952	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61956955	0.81[EUR][1000 genomes]
rs73195977	0.81[EUR][1000 genomes]
rs73195982	0.81[EUR][1000 genomes]
rs73195996	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73197808	0.81[EUR][1000 genomes]
rs7333988	0.85[JPT][hapmap]
rs7400061	0.81[EUR][1000 genomes]
rs7984158	0.86[CHB][hapmap]
rs7990114	0.81[EUR][1000 genomes]
rs7992891	1.00[CHB][hapmap];0.94[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7995268	0.81[EUR][1000 genomes]
rs8000429	0.88[CHB][hapmap]
rs8000433	0.86[CHB][hapmap]
rs8001625	0.81[EUR][1000 genomes]
rs8002112	0.89[CHB][hapmap]
rs9316535	0.81[EUR][1000 genomes]
rs9316537	0.81[CHB][hapmap];0.88[CHD][hapmap];0.85[JPT][hapmap];1.00[ASN][1000 genomes]
rs9563041	0.81[EUR][1000 genomes]
rs9563042	0.81[EUR][1000 genomes]
rs9563043	0.81[EUR][1000 genomes]
rs9563044	0.81[EUR][1000 genomes]
rs9563045	0.81[EUR][1000 genomes]
rs9563049	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9563050	0.81[EUR][1000 genomes]
rs9563052	0.81[EUR][1000 genomes]
rs9563053	0.81[EUR][1000 genomes]
rs9563054	0.81[EUR][1000 genomes]
rs9563055	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9568564	0.81[EUR][1000 genomes]
rs9568565	0.81[EUR][1000 genomes]
rs9568566	0.81[EUR][1000 genomes]
rs9568567	0.81[EUR][1000 genomes]
rs9568568	0.81[EUR][1000 genomes]
rs9568569	0.81[EUR][1000 genomes]
rs9568570	0.81[EUR][1000 genomes]
rs9568571	0.81[EUR][1000 genomes]
rs9568572	0.81[EUR][1000 genomes]
rs9568573	0.81[EUR][1000 genomes]
rs9568574	0.83[TSI][hapmap];0.81[EUR][1000 genomes]
rs9568575	0.83[TSI][hapmap]
rs9568576	0.81[EUR][1000 genomes]
rs9568578	0.83[TSI][hapmap]
rs9568579	0.81[EUR][1000 genomes]
rs9568581	0.81[EUR][1000 genomes]
rs9568585	0.81[EUR][1000 genomes]
rs9568586	1.00[CHB][hapmap];0.94[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9568588	0.81[EUR][1000 genomes]
rs9568589	0.81[EUR][1000 genomes]
rs9568590	0.81[EUR][1000 genomes]
rs9568591	0.81[EUR][1000 genomes]
rs9568592	0.81[EUR][1000 genomes]
rs9568593	0.81[EUR][1000 genomes]
rs9568594	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9568596	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9634685	0.81[EUR][1000 genomes]
rs9634838	0.81[EUR][1000 genomes]
rs9634839	0.81[EUR][1000 genomes]
rs9634840	0.81[EUR][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9568580	Hs.123474	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51906000-51944400	Weak transcription	Spleen	Spleen
2	chr13:51913400-51944600	Weak transcription	Aorta	Aorta
3	chr13:51917600-51943200	Weak transcription	NHLF	lung
4	chr13:51917800-51942400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr13:51918600-51945000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr13:51919000-51944400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr13:51922800-51941200	Weak transcription	Fetal Muscle Trunk	muscle
8	chr13:51932000-51945800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr13:51932000-51947400	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr13:51932200-51941000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr13:51932400-51942400	Weak transcription	Thymus	Thymus
12	chr13:51932400-51944400	Weak transcription	Fetal Stomach	stomach
13	chr13:51932600-51944400	Weak transcription	Lung	lung
14	chr13:51932800-51943000	Weak transcription	Brain Cingulate Gyrus	brain
15	chr13:51933400-51945400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr13:51933600-51947600	Weak transcription	Brain Substantia Nigra	brain
17	chr13:51933800-51939600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr13:51933800-51947400	Weak transcription	Brain Germinal Matrix	brain
19	chr13:51934000-51943400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr13:51934000-51944400	Weak transcription	Esophagus	oesophagus
21	chr13:51934000-51947000	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr13:51934200-51945000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr13:51934200-51958400	Strong transcription	Placenta	Placenta
24	chr13:51934200-51959800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr13:51934400-51940200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr13:51934400-51943400	Strong transcription	Adipose Nuclei	Adipose
27	chr13:51934400-51945800	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr13:51934400-51947400	Weak transcription	Psoas Muscle	Psoas
29	chr13:51934400-51963800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr13:51934600-51944400	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr13:51934600-51946200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr13:51934600-51955800	Weak transcription	Fetal Intestine Small	intestine
33	chr13:51934800-51944000	Strong transcription	Primary neutrophils fromperipheralblood	blood
34	chr13:51935000-51942400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr13:51935000-51949400	Weak transcription	Colonic Mucosa	Colon
36	chr13:51935400-51944000	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr13:51935400-51944200	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr13:51935400-51957800	Strong transcription	Fetal Thymus	thymus
39	chr13:51935400-51959600	Strong transcription	GM12878-XiMat	blood
40	chr13:51935600-51939200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr13:51935600-51942200	Weak transcription	Colon Smooth Muscle	Colon
42	chr13:51935600-51954000	Weak transcription	Stomach Mucosa	stomach
43	chr13:51935600-51971400	Weak transcription	Gastric	stomach
44	chr13:51935800-51954800	Strong transcription	Primary T cells fromperipheralblood	blood
45	chr13:51935800-51962000	Strong transcription	Dnd41	blood
46	chr13:51936000-51947600	Weak transcription	Small Intestine	intestine
47	chr13:51936200-51963600	Strong transcription	Liver	Liver
48	chr13:51936400-51943600	Strong transcription	Duodenum Smooth Muscle	Duodenum
49	chr13:51936400-51966000	Weak transcription	Right Ventricle	heart
50	chr13:51936600-51939200	Strong transcription	Primary T cells from cord blood	blood

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