Variant report

Variant	rs833836
Chromosome Location	chr12:49451459-49451460
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:49447251..49459518-chr12:49480338..49487981,17	K562	blood:
2	chr12:49446392..49469923-chr12:49518127..49527853,66	K562	blood:
3	chr12:49449575..49451680-chr12:49657899..49659642,2	MCF-7	breast:
4	chr12:49408338..49419708-chr12:49447252..49460551,38	K562	blood:
5	chr12:49448896..49462070-chr12:49656751..49663992,28	K562	blood:
6	chr12:49448339..49452151-chr12:49502290..49505835,5	K562	blood:
7	chr12:49409714..49416851-chr12:49447402..49455499,24	MCF-7	breast:
8	chr12:49450455..49459531-chr12:49522374..49527837,16	MCF-7	breast:
9	chr12:49440399..49469923-chr12:49518291..49528303,83	K562	blood:
10	chr12:49449329..49454848-chr12:49480302..49484566,6	K562	blood:
11	chr12:49449381..49452222-chr12:49503587..49506144,3	MCF-7	breast:
12	chr12:49450333..49452473-chr12:49512051..49515043,2	K562	blood:
13	chr12:49450480..49457103-chr12:49487982..49492074,8	K562	blood:
14	chr12:49451046..49453435-chr12:49498643..49501746,3	K562	blood:
15	chr12:49449606..49452537-chr12:49657710..49660270,2	MCF-7	breast:
16	chr12:49432703..49444457-chr12:49447982..49454860,15	MCF-7	breast:
17	chr12:49449997..49452765-chr12:49487895..49490423,3	K562	blood:
18	chr12:49449335..49458365-chr12:49656751..49666981,25	K562	blood:

No data

Variant related genes	Relation type
ENSG00000258101	Chromatin interaction
ENSG00000167553	Chromatin interaction
ENSG00000139636	Chromatin interaction
ENSG00000123416	Chromatin interaction
ENSG00000257346	Chromatin interaction
ENSG00000139549	Chromatin interaction
ENSG00000167548	Chromatin interaction
ENSG00000258017	Chromatin interaction
ENSG00000181929	Chromatin interaction
ENSG00000200309	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12318558	1.00[JPT][hapmap]
rs17175174	1.00[CHD][hapmap]
rs2228417	1.00[CHD][hapmap]
rs2453477	1.00[CHD][hapmap]
rs3741624	1.00[JPT][hapmap]
rs7311091	1.00[JPT][hapmap]
rs7959831	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832404	chr12:49258560-49458555	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv1051161	chr12:49314550-49828473	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
3	nsv541489	chr12:49314550-49828473	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
4	nsv558833	chr12:49358880-49478812	Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
5	nsv1036452	chr12:49376285-49867760	Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	315 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs833836	WNT10B	cis	cerebellum	SCAN

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49413000-49453400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:49449200-49451600	Enhancers	Primary B cells from peripheral blood	blood
3	chr12:49449200-49452400	Enhancers	Spleen	Spleen
4	chr12:49449200-49454200	Transcr. at gene 5' and 3'	Dnd41	blood
5	chr12:49449400-49451600	Enhancers	H9 Cell Line	embryonic stem cell
6	chr12:49449400-49451600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr12:49449400-49451600	Enhancers	Left Ventricle	heart
8	chr12:49449400-49451800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
9	chr12:49449400-49451800	Enhancers	Placenta Amnion	Placenta Amnion
10	chr12:49449400-49452000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr12:49449400-49452200	Enhancers	Small Intestine	intestine
12	chr12:49449400-49452800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr12:49449400-49452800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
14	chr12:49449400-49453200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
15	chr12:49449400-49453400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
16	chr12:49449400-49453400	Flanking Active TSS	Stomach Smooth Muscle	stomach
17	chr12:49449400-49453600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr12:49449400-49453800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr12:49449600-49451800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr12:49449600-49451800	Flanking Active TSS	GM12878-XiMat	blood
21	chr12:49449600-49451800	Transcr. at gene 5' and 3'	K562	blood
22	chr12:49449600-49452600	Flanking Active TSS	Rectal Smooth Muscle	rectum
23	chr12:49449600-49452800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr12:49449600-49453000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr12:49449600-49453000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
26	chr12:49449600-49453000	Flanking Active TSS	HUVEC	blood vessel
27	chr12:49449600-49453200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr12:49449600-49453200	Flanking Active TSS	Duodenum Mucosa	Duodenum
29	chr12:49449600-49453200	Flanking Active TSS	Fetal Brain Female	brain
30	chr12:49449600-49453400	Flanking Active TSS	Adipose Nuclei	Adipose
31	chr12:49449800-49451600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr12:49449800-49451800	Flanking Active TSS	HepG2	liver
33	chr12:49449800-49452600	Flanking Active TSS	NH-A	brain
34	chr12:49449800-49453000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
35	chr12:49449800-49453000	Flanking Active TSS	Primary T cells from cord blood	blood
36	chr12:49449800-49453000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
37	chr12:49449800-49453000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
38	chr12:49449800-49453200	Flanking Active TSS	Osteobl	bone
39	chr12:49449800-49453400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
40	chr12:49449800-49453800	Flanking Active TSS	Primary hematopoietic stem cells	blood
41	chr12:49450000-49451600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr12:49450000-49451800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr12:49450000-49451800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
44	chr12:49450000-49451800	Enhancers	Gastric	stomach
45	chr12:49450000-49452000	Flanking Active TSS	A549	lung
46	chr12:49450000-49452800	Flanking Active TSS	Hela-S3	cervix
47	chr12:49450000-49452800	Flanking Active TSS	NHEK	skin
48	chr12:49450000-49453000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
49	chr12:49450000-49453200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
50	chr12:49450000-49453600	Flanking Active TSS	Primary B cells from cord blood	blood

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