Variant report

Variant	rs17155176
Chromosome Location	chr8:8936101-8936102
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:8932505..8934408-chr8:8934754..8936644,3	MCF-7	breast:
2	chr8:8935123..8936678-chr8:8962823..8964352,2	MCF-7	breast:
3	chr8:8935014..8937829-chr8:9004036..9006793,2	MCF-7	breast:
4	chr8:8929863..8933165-chr8:8933617..8936213,3	MCF-7	breast:
5	chr8:8935137..8938110-chr8:8938203..8940506,3	MCF-7	breast:
6	chr8:8931416..8936474-chr8:8938271..8941320,7	K562	blood:
7	chr8:8935360..8937966-chr8:9011141..9013964,2	MCF-7	breast:
8	chr8:8934965..8937761-chr8:8946475..8949446,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000239078	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs17155179	0.84[AFR][1000 genomes]
rs17653841	0.80[MEX][hapmap]
rs6601286	0.91[YRI][hapmap];0.83[AFR][1000 genomes]
rs6987277	0.84[ASW][hapmap];0.95[GIH][hapmap];0.85[LWK][hapmap];0.90[MEX][hapmap];0.81[TSI][hapmap];0.91[YRI][hapmap]
rs7818455	0.90[YRI][hapmap]
rs7825188	0.95[GIH][hapmap];0.84[LWK][hapmap];0.91[YRI][hapmap]

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	nsv890331	chr8:8093240-8971100	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv917117	chr8:8621658-9313799	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv1022468	chr8:8857853-9209167	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv539460	chr8:8857853-9209167	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv817373	chr8:8857854-9361049	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17155176	CLDN23	cis	multi-tissue	Pritchard

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8924000-8936200	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr8:8924000-8937800	Weak transcription	Lung	lung
3	chr8:8924000-8939600	Weak transcription	Right Ventricle	heart
4	chr8:8929600-8940000	Weak transcription	Aorta	Aorta
5	chr8:8930200-8940400	Enhancers	Fetal Intestine Large	intestine
6	chr8:8930800-8936400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr8:8931600-8938000	Enhancers	Placenta	Placenta
8	chr8:8931800-8940800	Enhancers	Fetal Intestine Small	intestine
9	chr8:8932000-8937800	Enhancers	Fetal Heart	heart
10	chr8:8932600-8937200	Weak transcription	Gastric	stomach
11	chr8:8932600-8937400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr8:8932600-8939600	Weak transcription	Ovary	ovary
13	chr8:8932600-8951800	Weak transcription	Pancreas	Pancrea
14	chr8:8932800-8936200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr8:8932800-8939200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr8:8932800-8945600	Weak transcription	Thymus	Thymus
17	chr8:8933000-8936200	Weak transcription	Duodenum Mucosa	Duodenum
18	chr8:8933000-8936400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr8:8933000-8937800	Weak transcription	Liver	Liver
20	chr8:8933000-8937800	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr8:8933000-8939400	Enhancers	K562	blood
22	chr8:8933200-8936200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr8:8933200-8936600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr8:8933200-8936800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr8:8933200-8937000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr8:8933200-8937000	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr8:8933200-8937000	Enhancers	Hela-S3	cervix
28	chr8:8933200-8937800	Enhancers	A549	lung
29	chr8:8933200-8938000	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr8:8933200-8938000	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr8:8933200-8938200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr8:8933200-8938200	Weak transcription	Colon Smooth Muscle	Colon
33	chr8:8933200-8938800	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr8:8933200-8939400	Weak transcription	Fetal Lung	lung
35	chr8:8933200-8939600	Weak transcription	Rectal Smooth Muscle	rectum
36	chr8:8933400-8936200	Weak transcription	HMEC	breast
37	chr8:8933400-8938000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr8:8933600-8939200	Weak transcription	Primary hematopoietic stem cells	blood
39	chr8:8933800-8937800	Weak transcription	Left Ventricle	heart
40	chr8:8933800-8937800	Enhancers	Stomach Mucosa	stomach
41	chr8:8934200-8937000	Enhancers	Adipose Nuclei	Adipose
42	chr8:8934200-8940000	Enhancers	Placenta Amnion	Placenta Amnion
43	chr8:8935000-8939600	Weak transcription	NHLF	lung
44	chr8:8935200-8936200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr8:8935200-8936600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr8:8935200-8936800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr8:8935200-8937200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr8:8935200-8937800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr8:8935200-8937800	Weak transcription	Small Intestine	intestine
50	chr8:8935200-8939400	Weak transcription	HSMM	muscle

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