Variant report

Variant	rs11176043
Chromosome Location	chr12:66503632-66503633
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:66501889..66503697-chr12:66505453..66507197,2	K562	blood:
2	chr12:66501520..66504935-chr12:66522647..66526244,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139233	Chromatin interaction
ENSG00000239335	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10400539	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10506478	0.92[CEU][hapmap];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10735933	0.81[CHB][hapmap]
rs10878381	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10878382	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10878383	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10878389	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10878391	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11176054	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11176056	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11176063	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11176065	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11176067	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11176068	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11176080	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11176081	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs11176082	0.81[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12227630	0.85[EUR][1000 genomes]
rs12832926	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17767200	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1882201	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1898304	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1921083	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2141709	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2178486	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2870781	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34645929	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34755483	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4474482	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4575321	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56271210	0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7295147	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7302893	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7305938	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7966453	0.81[AFR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7966561	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7979029	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7979775	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052503	chr12:66293898-67269495	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv541515	chr12:66293898-67269495	Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv1049537	chr12:66403269-66606174	Strong transcription Genic enhancers Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs11176043	TMBIM4	cis	uninvolved skin	skin_eQTL
rs11176043	RP11-745O10.2	cis	Skin Sun Exposed Lower leg	GTEx
rs11176043	TMBIM4	cis	normal skin	skin_eQTL
rs11176043	TMBIM4	Cis_1M	lymphoblastoid	RTeQTL
rs11176043	RP11-745O10.2	cis	Whole Blood	GTEx
rs11176043	TMBIM4	cis	lesional skin	skin_eQTL
rs11176043	RP11-745O10.2	cis	lung	GTEx
rs11176043	RP11-745O10.2	cis	Artery Tibial	GTEx
rs11176043	RP11-745O10.2	cis	Thyroid	GTEx

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:66500600-66503800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr12:66501200-66505400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr12:66501200-66516000	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr12:66501400-66514600	Weak transcription	A549	lung
5	chr12:66501400-66515400	Weak transcription	Liver	Liver
6	chr12:66501600-66505200	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr12:66501600-66505400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr12:66501600-66512200	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr12:66501600-66513000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr12:66501600-66513200	Weak transcription	Brain Anterior Caudate	brain
11	chr12:66501600-66513200	Weak transcription	HSMM	muscle
12	chr12:66501600-66513600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr12:66501600-66513800	Weak transcription	Adipose Nuclei	Adipose
14	chr12:66501600-66514600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr12:66501600-66514600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr12:66501600-66514600	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr12:66501600-66516000	Weak transcription	Brain Hippocampus Middle	brain
18	chr12:66501600-66517600	Weak transcription	Right Ventricle	heart
19	chr12:66501800-66512400	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr12:66501800-66516800	Weak transcription	NHEK	skin
21	chr12:66502000-66505200	Weak transcription	Osteobl	bone
22	chr12:66502000-66508800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr12:66502000-66513400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr12:66502000-66518000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr12:66502400-66505200	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr12:66502400-66515800	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr12:66502400-66516000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr12:66502400-66518400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr12:66502600-66505600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr12:66502600-66516000	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr12:66502600-66516200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr12:66503400-66505200	Weak transcription	NHDF-Ad	bronchial

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