Variant report

Variant	rs7136534
Chromosome Location	chr12:48294626-48294627
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:48293184..48294886-chr12:48297131..48299471,2	K562	blood:
2	chr12:48293928..48294822-chr12:48455472..48456360,4	MCF-7	breast:
3	chr12:48263903..48264738-chr12:48293957..48294663,3	MCF-7	breast:
4	chr12:48293420..48296418-chr12:48372974..48374777,2	K562	blood:
5	chr12:48293988..48295006-chr12:48357019..48358128,7	MCF-7	breast:
6	chr12:48293537..48295353-chr12:48342553..48343953,18	MCF-7	breast:
7	chr12:48290096..48306593-chr12:48332606..48350271,44	MCF-7	breast:
8	chr12:48293987..48294746-chr12:48342749..48343852,8	MCF-7	breast:
9	chr12:48294511..48296971-chr12:48414193..48417151,2	MCF-7	breast:
10	chr12:48254834..48256905-chr12:48293937..48296372,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000111424	Chromatin interaction
ENSG00000134291	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10083198	0.82[EUR][1000 genomes]
rs10747525	0.86[ASN][1000 genomes]
rs10875695	0.90[CEU][hapmap];0.95[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10875697	0.97[ASN][1000 genomes]
rs10875700	1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs10875701	0.96[ASN][1000 genomes]
rs10875702	1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs10875704	0.82[CHD][hapmap]
rs11168307	0.83[ASN][1000 genomes]
rs11568820	0.95[CHB][hapmap];0.86[JPT][hapmap]
rs11574026	0.82[ASW][hapmap]
rs11829292	0.96[ASN][1000 genomes]
rs12304114	0.91[ASN][1000 genomes]
rs4237855	0.91[CHB][hapmap];0.81[JPT][hapmap]
rs4254129	0.96[ASN][1000 genomes]
rs4334089	0.90[CEU][hapmap];0.81[JPT][hapmap];0.89[TSI][hapmap];0.87[EUR][1000 genomes]
rs4341603	0.86[EUR][1000 genomes]
rs4402365	1.00[CHB][hapmap];0.94[JPT][hapmap];0.97[ASN][1000 genomes]
rs4442605	0.96[ASN][1000 genomes]
rs4454781	0.96[ASN][1000 genomes]
rs7299460	0.82[EUR][1000 genomes]
rs7302235	0.94[CEU][hapmap];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7305180	1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.80[MKK][hapmap];0.82[YRI][hapmap];0.96[ASN][1000 genomes]
rs7308216	0.83[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428589	chr12:48282920-48341192	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7136534	TMBIM6	cis	cerebellum	SCAN

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48262000-48296800	Weak transcription	Aorta	Aorta
2	chr12:48277200-48295000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr12:48286800-48298000	Weak transcription	Right Atrium	heart
4	chr12:48290800-48296400	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr12:48290800-48297400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr12:48291000-48297000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr12:48291400-48297000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr12:48293000-48296800	Enhancers	Fetal Intestine Large	intestine
9	chr12:48293000-48297200	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr12:48293200-48294800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr12:48293200-48295800	Enhancers	Primary T cells from cord blood	blood
12	chr12:48293200-48297000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr12:48293200-48297400	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr12:48293200-48297400	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr12:48293200-48297400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr12:48293200-48297600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr12:48293400-48294800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr12:48293400-48295200	Genic enhancers	Fetal Intestine Small	intestine
19	chr12:48293400-48296400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr12:48293400-48296400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr12:48293400-48297200	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr12:48293400-48297400	Enhancers	Esophagus	oesophagus
23	chr12:48293400-48297600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr12:48293400-48297600	Enhancers	Lung	lung
25	chr12:48293400-48297800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
26	chr12:48293400-48297800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr12:48293400-48298200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
28	chr12:48293400-48298400	Enhancers	Gastric	stomach
29	chr12:48293400-48298400	Enhancers	Stomach Mucosa	stomach
30	chr12:48293600-48294800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
31	chr12:48293600-48295000	Enhancers	Placenta Amnion	Placenta Amnion
32	chr12:48293600-48295200	Flanking Active TSS	Duodenum Mucosa	Duodenum
33	chr12:48293600-48295400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr12:48293600-48296600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr12:48293600-48297000	Enhancers	Primary B cells from cord blood	blood
36	chr12:48293600-48297200	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr12:48293600-48297400	Enhancers	Primary T killer memory cells from peripheral blood	blood
38	chr12:48293600-48297800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
39	chr12:48293600-48297800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
40	chr12:48293800-48295600	Enhancers	GM12878-XiMat	blood
41	chr12:48293800-48296800	Enhancers	Primary hematopoietic stem cells	blood
42	chr12:48293800-48297000	Weak transcription	Small Intestine	intestine
43	chr12:48294000-48294800	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr12:48294000-48295000	Enhancers	HepG2	liver
45	chr12:48294000-48295400	Enhancers	Placenta	Placenta
46	chr12:48294000-48296000	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr12:48294000-48297200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
48	chr12:48294200-48294800	Enhancers	HMEC	breast
49	chr12:48294200-48295200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr12:48294200-48295400	Enhancers	Fetal Thymus	thymus

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