Variant report

Variant	rs2278734
Chromosome Location	chr11:18742570-18742571
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:18742483..18743153-chr17:61920211..61920994,2	HCT-116	colon:
2	chr11:18721064..18722963-chr11:18742444..18744897,2	MCF-7	breast:
3	chr11:18741015..18744617-chr11:18749870..18752348,3	K562	blood:
4	chr11:18725792..18727506-chr11:18741119..18743990,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000108604	Chromatin interaction
ENSG00000151117	Chromatin interaction
ENSG00000110786	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs10832975	0.81[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12418990	0.94[LWK][hapmap];0.84[MKK][hapmap];0.83[YRI][hapmap];0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv553633	chr11:18311701-19058451	Weak transcription Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
2	nsv1046886	chr11:18547568-18781448	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
3	nsv540956	chr11:18547568-18781448	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
4	nsv897028	chr11:18714623-18770822	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv525192	chr11:18722791-18793360	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv1047371	chr11:18731473-18763037	Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv525452	chr11:18735947-18802503	Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2278734	TPH1	cis	parietal	SCAN

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18728600-18742600	Weak transcription	Aorta	Aorta
2	chr11:18741600-18742800	Enhancers	Small Intestine	intestine
3	chr11:18741800-18742600	Bivalent Enhancer	HepG2	liver
4	chr11:18742000-18743800	Flanking Active TSS	Duodenum Mucosa	Duodenum
5	chr11:18742000-18744000	Active TSS	Fetal Brain Male	brain
6	chr11:18742200-18742600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:18742200-18742600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
8	chr11:18742200-18742600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr11:18742200-18742600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr11:18742200-18742600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr11:18742200-18742600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr11:18742200-18742600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr11:18742200-18742600	Flanking Active TSS	Brain Germinal Matrix	brain
14	chr11:18742200-18742600	Flanking Active TSS	Fetal Lung	lung
15	chr11:18742200-18742600	Enhancers	Lung	lung
16	chr11:18742200-18742600	Flanking Active TSS	Rectal Smooth Muscle	rectum
17	chr11:18742200-18742600	Enhancers	Spleen	Spleen
18	chr11:18742200-18742600	Enhancers	NHEK	skin
19	chr11:18742200-18742800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr11:18742200-18743600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr11:18742200-18743800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
22	chr11:18742200-18743800	Flanking Active TSS	Adipose Nuclei	Adipose
23	chr11:18742200-18743800	Active TSS	Duodenum Smooth Muscle	Duodenum
24	chr11:18742200-18743800	Flanking Active TSS	Fetal Intestine Small	intestine
25	chr11:18742200-18743800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
26	chr11:18742200-18743800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
27	chr11:18742200-18743800	Flanking Active TSS	Stomach Smooth Muscle	stomach
28	chr11:18742200-18743800	Flanking Active TSS	Osteobl	bone
29	chr11:18742400-18742600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
30	chr11:18742400-18742600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
31	chr11:18742400-18742600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr11:18742400-18742600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
33	chr11:18742400-18742600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
34	chr11:18742400-18742600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
35	chr11:18742400-18742600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
36	chr11:18742400-18742600	Active TSS	Primary B cells from cord blood	blood
37	chr11:18742400-18742600	Enhancers	Primary hematopoietic stem cells	blood
38	chr11:18742400-18742600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
39	chr11:18742400-18742600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
40	chr11:18742400-18742600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
41	chr11:18742400-18742600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
42	chr11:18742400-18742600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
43	chr11:18742400-18742600	Active TSS	Cortex derived primary cultured neurospheres	brain
44	chr11:18742400-18742600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr11:18742400-18742600	Enhancers	Liver	Liver
46	chr11:18742400-18742600	Flanking Active TSS	Brain Angular Gyrus	brain
47	chr11:18742400-18742600	Flanking Active TSS	Brain Cingulate Gyrus	brain
48	chr11:18742400-18742600	Active TSS	Brain Inferior Temporal Lobe	brain
49	chr11:18742400-18742600	Flanking Active TSS	Colon Smooth Muscle	Colon
50	chr11:18742400-18742600	Flanking Active TSS	Fetal Heart	heart

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