Variant report

Variant	rs12795344
Chromosome Location	chr11:9423541-9423542
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	chr11:9423430-9423581	HepG2	liver:	n/a	n/a
2	POLR2A	chr11:9423436-9423851	PFSK-1	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:9422398..9424757-chr11:9482761..9485642,2	MCF-7	breast:

Variant related genes	Relation type
IPO7	TF binding region
ENSG00000166478	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs1020621	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1020622	0.89[ASN][1000 genomes]
rs10437665	0.81[JPT][hapmap]
rs10743107	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10770026	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10770028	0.87[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.97[TSI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10770029	1.00[ASN][1000 genomes]
rs10770032	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10770033	0.89[ASN][1000 genomes]
rs10840228	0.93[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.90[YRI][hapmap];0.85[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10840229	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10840234	1.00[CHB][hapmap];0.89[JPT][hapmap];0.96[ASN][1000 genomes]
rs10840235	0.93[ASW][hapmap];1.00[CEU][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10840236	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10840237	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10840238	0.90[ASN][1000 genomes]
rs10840243	0.95[JPT][hapmap]
rs10840245	0.95[JPT][hapmap]
rs10840253	0.86[JPT][hapmap]
rs11042328	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.97[TSI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11042329	1.00[CHB][hapmap];0.97[CHD][hapmap];0.90[JPT][hapmap];0.99[ASN][1000 genomes]
rs11042338	0.81[AMR][1000 genomes]
rs11042343	0.81[AMR][1000 genomes]
rs11042348	0.92[ASN][1000 genomes]
rs11042349	0.87[ASN][1000 genomes]
rs11042350	0.84[GIH][hapmap];0.90[ASN][1000 genomes]
rs11042353	0.89[ASN][1000 genomes]
rs11042355	0.89[ASN][1000 genomes]
rs11042356	0.89[ASN][1000 genomes]
rs11042366	0.94[CHB][hapmap];0.86[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap]
rs11042395	0.95[JPT][hapmap]
rs11826606	0.84[ASN][1000 genomes]
rs12225755	0.94[ASN][1000 genomes]
rs12271897	0.90[ASN][1000 genomes]
rs12282176	0.89[ASN][1000 genomes]
rs12296039	0.85[ASN][1000 genomes]
rs12790938	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12797567	0.92[ASN][1000 genomes]
rs12799672	0.85[ASN][1000 genomes]
rs12800802	0.90[ASN][1000 genomes]
rs2278900	0.95[JPT][hapmap]
rs2290423	0.87[CHB][hapmap];0.94[CHD][hapmap];0.83[GIH][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs2290424	0.95[JPT][hapmap]
rs2290425	0.95[JPT][hapmap]
rs35781320	0.86[ASN][1000 genomes]
rs41369549	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs4625466	0.83[CHD][hapmap];0.95[JPT][hapmap]
rs4810	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs4910048	0.81[JPT][hapmap]
rs4910053	0.95[JPT][hapmap]
rs6486306	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6486307	0.91[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6486359	0.89[ASN][1000 genomes]
rs6486361	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs6486394	0.95[JPT][hapmap]
rs67548305	0.89[ASN][1000 genomes]
rs68060819	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7104568	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7114824	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7115477	1.00[CEU][hapmap];1.00[GIH][hapmap];0.86[MEX][hapmap];0.92[TSI][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7122252	1.00[CHB][hapmap];0.94[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7128033	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs723297	0.95[JPT][hapmap]
rs727405	0.95[JPT][hapmap]
rs729313	0.95[JPT][hapmap]
rs7395411	0.87[ASN][1000 genomes]
rs7396544	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7480643	0.91[CEU][hapmap];0.98[GIH][hapmap];0.86[MEX][hapmap];0.93[TSI][hapmap];0.93[EUR][1000 genomes]
rs7926589	0.95[JPT][hapmap]
rs7927350	0.94[CHB][hapmap];0.83[CHD][hapmap];0.83[GIH][hapmap];0.95[JPT][hapmap]
rs7944578	0.94[CHB][hapmap];0.83[CHD][hapmap];0.83[GIH][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs7949973	0.89[ASN][1000 genomes]
rs8785	0.86[ASW][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.89[ASN][1000 genomes]
rs9667574	0.81[ASN][1000 genomes]
rs972594	0.95[JPT][hapmap]
rs9787851	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916534	chr11:9188436-9516241	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv1055078	chr11:9252857-9538877	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12795344	TEAD1	cis	cerebellum	SCAN
rs12795344	IPO7	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9407200-9425400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr11:9407200-9427000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:9407200-9430400	Weak transcription	Spleen	Spleen
4	chr11:9407200-9430600	Weak transcription	Esophagus	oesophagus
5	chr11:9407200-9430600	Weak transcription	Pancreas	Pancrea
6	chr11:9407200-9430800	Weak transcription	Gastric	stomach
7	chr11:9407400-9427000	Weak transcription	Fetal Muscle Trunk	muscle
8	chr11:9407400-9427000	Weak transcription	Left Ventricle	heart
9	chr11:9407600-9431400	Weak transcription	HSMMtube	muscle
10	chr11:9407600-9442000	Weak transcription	Fetal Brain Male	brain
11	chr11:9407600-9464000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr11:9407800-9425400	Weak transcription	Fetal Muscle Leg	muscle
13	chr11:9407800-9427000	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr11:9408000-9424800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr11:9408200-9431000	Weak transcription	Brain Cingulate Gyrus	brain
16	chr11:9408400-9428400	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr11:9408800-9426400	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr11:9408800-9427000	Weak transcription	Fetal Brain Female	brain
19	chr11:9408800-9431200	Weak transcription	Brain Substantia Nigra	brain
20	chr11:9409000-9424800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr11:9409000-9424800	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr11:9409000-9427000	Weak transcription	Liver	Liver
23	chr11:9409000-9427200	Weak transcription	HMEC	breast
24	chr11:9409200-9425600	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr11:9409200-9427000	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr11:9409200-9427200	Weak transcription	Psoas Muscle	Psoas
27	chr11:9410400-9425600	Weak transcription	Lung	lung
28	chr11:9411200-9424800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr11:9414000-9425800	Weak transcription	Fetal Intestine Large	intestine
30	chr11:9414400-9424800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr11:9414400-9425800	Weak transcription	Duodenum Mucosa	Duodenum
32	chr11:9414800-9425800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr11:9414800-9426200	Weak transcription	Thymus	Thymus
34	chr11:9415400-9426000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr11:9415800-9430000	Weak transcription	Primary hematopoietic stem cells	blood
36	chr11:9416000-9456000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr11:9416200-9424800	Weak transcription	Fetal Thymus	thymus
38	chr11:9418000-9424000	Weak transcription	Fetal Stomach	stomach
39	chr11:9418000-9425400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr11:9418000-9430400	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr11:9418200-9432200	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr11:9418600-9423600	Strong transcription	Hela-S3	cervix
43	chr11:9419200-9424000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr11:9419200-9424800	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr11:9419200-9426400	Weak transcription	Placenta	Placenta
46	chr11:9419200-9446600	Weak transcription	Small Intestine	intestine
47	chr11:9419400-9424800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr11:9419400-9425000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr11:9419400-9425000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr11:9419600-9425000	Weak transcription	H1 Cell Line	embryonic stem cell

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