Variant report

Variant	rs11465990
Chromosome Location	chr12:66642476-66642477
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:66634026..66637031-chr12:66641100..66643733,3	MCF-7	breast:
2	chr12:66640647..66642842-chr12:66645724..66647826,2	MCF-7	breast:

Extended variants
information (count: 4 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs11176107	1.00[CHB][hapmap]

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	nsv899216	chr12:66563835-66716844	Strong transcription Enhancers Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11465990	TMBIM4	cis	parietal	SCAN

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:66615600-66643400	Weak transcription	Stomach Mucosa	stomach
2	chr12:66629400-66645000	Weak transcription	Right Ventricle	heart
3	chr12:66629400-66645400	Weak transcription	Gastric	stomach
4	chr12:66629600-66643800	Weak transcription	Fetal Muscle Trunk	muscle
5	chr12:66629800-66644000	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr12:66631000-66650000	Weak transcription	Psoas Muscle	Psoas
7	chr12:66631800-66644800	Weak transcription	GM12878-XiMat	blood
8	chr12:66632000-66644400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr12:66633200-66646400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr12:66634400-66645800	Weak transcription	Duodenum Mucosa	Duodenum
11	chr12:66634600-66643400	Weak transcription	Fetal Stomach	stomach
12	chr12:66636200-66646600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr12:66636400-66646800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr12:66636600-66644000	Weak transcription	Primary B cells from cord blood	blood
15	chr12:66636600-66645600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr12:66636600-66649600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr12:66637400-66644000	Strong transcription	Left Ventricle	heart
18	chr12:66637800-66648000	Weak transcription	Aorta	Aorta
19	chr12:66638400-66643800	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr12:66638600-66647400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr12:66638800-66644400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr12:66639800-66642600	Genic enhancers	Primary neutrophils fromperipheralblood	blood
23	chr12:66639800-66642600	Strong transcription	Spleen	Spleen
24	chr12:66639800-66643400	Weak transcription	Placenta	Placenta
25	chr12:66639800-66645200	Strong transcription	Adipose Nuclei	Adipose
26	chr12:66640200-66642600	Strong transcription	Duodenum Smooth Muscle	Duodenum
27	chr12:66640400-66643600	Weak transcription	Liver	Liver
28	chr12:66640400-66646400	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr12:66640400-66648400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr12:66641000-66643400	Weak transcription	Lung	lung
31	chr12:66641200-66647800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr12:66641600-66643000	Strong transcription	Fetal Muscle Leg	muscle
33	chr12:66641600-66646600	Strong transcription	Fetal Lung	lung
34	chr12:66642000-66646800	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr12:66642000-66646800	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr12:66642400-66643800	Weak transcription	Primary hematopoietic stem cells	blood
37	chr12:66642400-66647000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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