Variant report

Variant	rs12708338
Chromosome Location	chr11:16919790-16919791
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:16918607..16920232-chr8:87576439..87578551,2	MCF-7	breast:
2	chr11:16912383..16915657-chr11:16918244..16920114,3	K562	blood:
3	chr11:16912383..16915251-chr11:16918244..16921230,3	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10832696	0.88[CEU][hapmap];1.00[MEX][hapmap];0.81[TSI][hapmap];0.91[EUR][1000 genomes]
rs10832697	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11024053	0.82[CEU][hapmap];0.84[EUR][1000 genomes]
rs11024065	0.88[CEU][hapmap];0.89[EUR][1000 genomes]
rs11024075	0.90[EUR][1000 genomes]
rs11024083	1.00[JPT][hapmap]
rs11601588	1.00[MEX][hapmap];0.85[EUR][1000 genomes]
rs11824348	0.89[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs12364529	0.85[CEU][hapmap];0.91[EUR][1000 genomes]
rs12418493	1.00[JPT][hapmap]
rs12785711	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs12787236	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs12795133	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs12802357	0.89[CHD][hapmap];1.00[JPT][hapmap]
rs12806040	1.00[JPT][hapmap]
rs2058160	0.82[CEU][hapmap];0.85[EUR][1000 genomes]
rs34670733	0.88[ASN][1000 genomes]
rs34760218	0.88[ASN][1000 genomes]
rs35677666	0.88[ASN][1000 genomes]
rs35865759	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59258722	0.86[EUR][1000 genomes]
rs6486322	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs6486323	0.88[ASN][1000 genomes]
rs6486324	0.88[ASN][1000 genomes]
rs6486325	1.00[JPT][hapmap]
rs7123174	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71484736	0.88[ASN][1000 genomes]
rs72864081	0.91[EUR][1000 genomes]
rs72864087	0.91[EUR][1000 genomes]
rs72865706	0.86[EUR][1000 genomes]
rs7394448	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs7394466	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs7394865	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs7395923	0.88[ASN][1000 genomes]
rs7396550	0.88[ASN][1000 genomes]
rs7926072	0.89[CHD][hapmap];1.00[JPT][hapmap]
rs7931313	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7933299	1.00[CHB][hapmap];0.90[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.83[YRI][hapmap]
rs7943517	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs7944146	0.89[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs7947201	1.00[JPT][hapmap];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832077	chr11:16834545-17059176	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv7688	chr11:16912759-16939804	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	esv2757425	chr11:16915291-16934130	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
4	esv2759805	chr11:16915291-16934130	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv1038987	chr11:16916438-16927022	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv2754709	chr11:16917219-16927022	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12708338	TEAD1	cis	parietal	SCAN

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:16912200-16923600	Weak transcription	A549	lung
2	chr11:16913800-16921800	Enhancers	Fetal Heart	heart
3	chr11:16914000-16927400	Weak transcription	HSMMtube	muscle
4	chr11:16914600-16921200	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr11:16915800-16921400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr11:16915800-16921400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr11:16915800-16922800	Weak transcription	HMEC	breast
8	chr11:16916000-16923000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr11:16916000-16924400	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr11:16916000-16931000	Weak transcription	Spleen	Spleen
11	chr11:16916800-16920200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr11:16917600-16920200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr11:16917800-16922000	Enhancers	Stomach Mucosa	stomach
14	chr11:16918200-16919800	Enhancers	Fetal Lung	lung
15	chr11:16918200-16922400	Enhancers	Fetal Intestine Large	intestine
16	chr11:16918200-16924800	Weak transcription	Colonic Mucosa	Colon
17	chr11:16918400-16919800	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr11:16918400-16919800	Enhancers	Small Intestine	intestine
19	chr11:16918400-16920600	Enhancers	H9 Cell Line	embryonic stem cell
20	chr11:16918600-16920400	Enhancers	Brain Anterior Caudate	brain
21	chr11:16918600-16922000	Enhancers	Duodenum Mucosa	Duodenum
22	chr11:16918800-16919800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr11:16918800-16920000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr11:16918800-16920200	Enhancers	Adipose Nuclei	Adipose
25	chr11:16918800-16920200	Enhancers	Brain Hippocampus Middle	brain
26	chr11:16919000-16919800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
27	chr11:16919000-16919800	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
28	chr11:16919000-16919800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
29	chr11:16919000-16919800	Enhancers	Primary hematopoietic stem cells	blood
30	chr11:16919000-16919800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr11:16919000-16919800	Enhancers	Left Ventricle	heart
32	chr11:16919000-16920000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr11:16919000-16920000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr11:16919000-16920400	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr11:16919000-16920400	Enhancers	HUVEC	blood vessel
36	chr11:16919200-16919800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
37	chr11:16919200-16919800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr11:16919200-16921400	Weak transcription	Pancreas	Pancrea
39	chr11:16919400-16919800	Enhancers	Fetal Kidney	kidney
40	chr11:16919400-16920200	Enhancers	Brain Angular Gyrus	brain
41	chr11:16919400-16921400	Weak transcription	Gastric	stomach
42	chr11:16919400-16922400	Enhancers	Fetal Intestine Small	intestine
43	chr11:16919400-16927000	Weak transcription	Fetal Muscle Leg	muscle
44	chr11:16919600-16920000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
45	chr11:16919600-16920000	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr11:16919600-16920000	Weak transcription	Liver	Liver
47	chr11:16919600-16920200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr11:16919600-16920200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr11:16919600-16920200	Weak transcription	Right Atrium	heart
50	chr11:16919600-16920400	Enhancers	H1 Cell Line	embryonic stem cell

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