Variant report

Variant	rs350234
Chromosome Location	chr16:12194354-12194355
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:12192648..12195630-chr16:12219371..12221424,2	MCF-7	breast:
2	chr16:12194051..12195792-chr16:12311088..12313546,2	MCF-7	breast:
3	chr16:12193274..12196616-chr16:12197279..12199728,3	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11075049	0.82[JPT][hapmap]
rs11642386	0.88[JPT][hapmap]
rs11648468	0.88[JPT][hapmap]
rs11648816	0.88[JPT][hapmap]
rs12926900	0.88[JPT][hapmap]
rs13336687	0.88[JPT][hapmap]
rs16958964	0.88[JPT][hapmap]
rs181152	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs350233	0.95[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs350246	0.87[ASN][1000 genomes]
rs350250	0.87[ASN][1000 genomes]
rs3851011	0.88[JPT][hapmap]
rs3851012	0.88[JPT][hapmap]
rs4781180	0.88[JPT][hapmap]
rs8048589	0.88[JPT][hapmap]
rs8050180	0.82[JPT][hapmap]
rs8063329	0.88[JPT][hapmap]
rs9939383	0.82[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv905347	chr16:12010444-12243329	Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv1043096	chr16:12013915-12840769	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv1043959	chr16:12039346-12285269	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
4	nsv977111	chr16:12161129-12220593	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1039492	chr16:12176517-12210702	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv571460	chr16:12181702-12238602	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1052973	chr16:12188092-12307880	ZNF genes & repeats Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	esv3337175	chr16:12191551-12195249	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs350234	TMEM186	cis	cerebellum	SCAN

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12178600-12199600	Weak transcription	Aorta	Aorta
2	chr16:12184400-12231200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr16:12186800-12213400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr16:12188000-12194400	Strong transcription	GM12878-XiMat	blood
5	chr16:12189600-12204000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr16:12189600-12204800	Weak transcription	Primary hematopoietic stem cells	blood
7	chr16:12189600-12204800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr16:12189800-12205000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr16:12189800-12209600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr16:12189800-12220400	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr16:12190000-12199600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr16:12190000-12220200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr16:12190000-12220400	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr16:12190200-12194400	Strong transcription	Primary B cells from cord blood	blood
15	chr16:12190200-12210600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr16:12190600-12194600	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr16:12190600-12195800	Strong transcription	Primary B cells from peripheral blood	blood
18	chr16:12190800-12195000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr16:12190800-12210600	Weak transcription	Pancreas	Pancrea
20	chr16:12191000-12197400	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr16:12191200-12223200	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr16:12191400-12195200	Weak transcription	Fetal Brain Female	brain
23	chr16:12191400-12213600	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr16:12191800-12194400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr16:12191800-12205000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr16:12191800-12207800	Weak transcription	Osteobl	bone
27	chr16:12192000-12195000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr16:12192000-12195400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr16:12192000-12198800	Weak transcription	Brain Angular Gyrus	brain
30	chr16:12192000-12199600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr16:12192000-12206000	Weak transcription	Brain Substantia Nigra	brain
32	chr16:12192000-12213800	Weak transcription	Rectal Smooth Muscle	rectum
33	chr16:12192000-12214600	Weak transcription	Right Atrium	heart
34	chr16:12192200-12195200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr16:12192200-12207200	Weak transcription	HSMMtube	muscle
36	chr16:12192400-12194800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr16:12192400-12204000	Weak transcription	Liver	Liver
38	chr16:12192400-12206400	Weak transcription	Brain Hippocampus Middle	brain
39	chr16:12192400-12210400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr16:12192400-12213200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr16:12192400-12213200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr16:12192600-12199800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr16:12192600-12205000	Weak transcription	Brain Anterior Caudate	brain
44	chr16:12192800-12195200	Strong transcription	Primary T cells from cord blood	blood
45	chr16:12192800-12199400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr16:12192800-12199600	Weak transcription	Thymus	Thymus
47	chr16:12192800-12205200	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr16:12192800-12205400	Weak transcription	Stomach Smooth Muscle	stomach
49	chr16:12192800-12207000	Weak transcription	Brain Cingulate Gyrus	brain
50	chr16:12192800-12213600	Weak transcription	Adipose Nuclei	Adipose

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