Variant report

Variant	rs17829192
Chromosome Location	chr14:69053079-69053080
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:68406708..68410646-chr14:69052499..69056687,4	MCF-7	breast:
2	chr14:69047861..69051902-chr14:69052585..69055305,4	MCF-7	breast:

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10130177	1.00[CHB][hapmap]
rs10134240	1.00[CHB][hapmap]
rs10137367	1.00[CHB][hapmap]
rs10147979	1.00[CHB][hapmap]
rs10148391	1.00[CHB][hapmap]
rs10483810	1.00[CHB][hapmap]
rs10483811	1.00[CHB][hapmap]
rs10483814	1.00[CHB][hapmap];0.83[GIH][hapmap];0.86[ASN][1000 genomes]
rs11849344	1.00[CHB][hapmap]
rs17105810	1.00[CHB][hapmap]
rs17105812	1.00[CHB][hapmap]
rs17105828	1.00[CHB][hapmap]
rs17105829	1.00[CHB][hapmap]
rs17829180	1.00[CHB][hapmap]
rs2842339	1.00[CHB][hapmap]
rs8017678	1.00[CHB][hapmap]
rs9323515	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832822	chr14:68874640-69060272	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv1795754	chr14:69017623-69079110	Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	esv1832715	chr14:69017623-69079110	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17829192	SNORD56B	cis	cerebellum	SCAN

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69037400-69054000	Weak transcription	Fetal Kidney	kidney
2	chr14:69042200-69053800	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr14:69045000-69053200	Weak transcription	Gastric	stomach
4	chr14:69045800-69053800	Weak transcription	Right Atrium	heart
5	chr14:69047400-69054000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr14:69047400-69060200	Weak transcription	Spleen	Spleen
7	chr14:69049800-69064000	Enhancers	Fetal Muscle Leg	muscle
8	chr14:69050200-69055000	Enhancers	Esophagus	oesophagus
9	chr14:69050200-69058800	Enhancers	Fetal Muscle Trunk	muscle
10	chr14:69050200-69058800	Enhancers	Placenta	Placenta
11	chr14:69051000-69053400	Enhancers	Brain Cingulate Gyrus	brain
12	chr14:69051000-69053800	Weak transcription	A549	lung
13	chr14:69051000-69055800	Enhancers	Fetal Thymus	thymus
14	chr14:69051000-69057000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr14:69051000-69057000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr14:69051200-69058200	Enhancers	NHDF-Ad	bronchial
17	chr14:69051200-69061800	Enhancers	Fetal Stomach	stomach
18	chr14:69051400-69053800	Weak transcription	Left Ventricle	heart
19	chr14:69051400-69057200	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr14:69051400-69057400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr14:69051400-69058000	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr14:69051600-69053400	Enhancers	Fetal Brain Male	brain
23	chr14:69051600-69054800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr14:69051600-69057200	Enhancers	H1 Cell Line	embryonic stem cell
25	chr14:69051800-69053200	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr14:69051800-69053200	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr14:69051800-69053600	Weak transcription	HMEC	breast
28	chr14:69051800-69053800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr14:69051800-69057600	Enhancers	Placenta Amnion	Placenta Amnion
30	chr14:69052000-69053200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr14:69052000-69053800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr14:69052000-69053800	Weak transcription	Fetal Heart	heart
33	chr14:69052000-69054000	Enhancers	Rectal Smooth Muscle	rectum
34	chr14:69052000-69054000	Enhancers	Stomach Smooth Muscle	stomach
35	chr14:69052000-69057600	Enhancers	Fetal Lung	lung
36	chr14:69052000-69057800	Enhancers	Colon Smooth Muscle	Colon
37	chr14:69052200-69053200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr14:69052200-69053200	Enhancers	Muscle Satellite Cultured Cells	--
39	chr14:69052200-69053200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr14:69052200-69053200	Enhancers	HSMM	muscle
41	chr14:69052200-69053200	Enhancers	NHLF	lung
42	chr14:69052200-69054600	Enhancers	Stomach Mucosa	stomach
43	chr14:69052200-69058000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr14:69052400-69054000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr14:69052400-69054200	Weak transcription	Psoas Muscle	Psoas
46	chr14:69052400-69054800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr14:69052600-69053200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
48	chr14:69052600-69053200	Weak transcription	Lung	lung
49	chr14:69052600-69053200	Weak transcription	NHEK	skin
50	chr14:69052600-69054800	Enhancers	Colonic Mucosa	Colon

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