Variant report

Variant	rs17829180
Chromosome Location	chr14:69047452-69047453
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

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	0.84[CEU][hapmap];1.00[CHB][hapmap]
rs10483811	1.00[CHB][hapmap]
rs10483814	1.00[CHB][hapmap]
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]
rs17829192	1.00[CHB][hapmap]
rs2842339	1.00[CHB][hapmap]
rs56406888	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58253081	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58592978	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
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

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69036800-69052000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr14:69037000-69052600	Weak transcription	Colonic Mucosa	Colon
3	chr14:69037400-69054000	Weak transcription	Fetal Kidney	kidney
4	chr14:69041000-69047800	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr14:69041000-69048200	Enhancers	Placenta	Placenta
6	chr14:69041200-69048200	Enhancers	HSMMtube	muscle
7	chr14:69041400-69047600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr14:69041400-69048000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr14:69042000-69050400	Weak transcription	Ovary	ovary
10	chr14:69042000-69052000	Weak transcription	Brain Anterior Caudate	brain
11	chr14:69042200-69053800	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr14:69043600-69048200	Enhancers	Fetal Muscle Leg	muscle
13	chr14:69043600-69050200	Weak transcription	Psoas Muscle	Psoas
14	chr14:69044600-69051400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr14:69044600-69052200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr14:69045000-69050200	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr14:69045000-69050200	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr14:69045000-69053200	Weak transcription	Gastric	stomach
19	chr14:69045200-69048200	Enhancers	Placenta Amnion	Placenta Amnion
20	chr14:69045200-69052200	Weak transcription	Stomach Mucosa	stomach
21	chr14:69045600-69047800	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr14:69045600-69050200	Weak transcription	Adipose Nuclei	Adipose
23	chr14:69045600-69050200	Weak transcription	Esophagus	oesophagus
24	chr14:69045600-69050800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr14:69045800-69050200	Weak transcription	Left Ventricle	heart
26	chr14:69045800-69050800	Weak transcription	HMEC	breast
27	chr14:69045800-69051000	Weak transcription	NHEK	skin
28	chr14:69045800-69053800	Weak transcription	Right Atrium	heart
29	chr14:69046000-69050200	Weak transcription	HepG2	liver
30	chr14:69046200-69050400	Weak transcription	Fetal Heart	heart
31	chr14:69046200-69053000	Weak transcription	Hela-S3	cervix
32	chr14:69046400-69048200	Enhancers	Fetal Muscle Trunk	muscle
33	chr14:69046400-69048200	Enhancers	Fetal Stomach	stomach
34	chr14:69046400-69051000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr14:69046600-69047600	Enhancers	Lung	lung
36	chr14:69046800-69047600	Enhancers	Fetal Intestine Small	intestine
37	chr14:69046800-69048000	Enhancers	Muscle Satellite Cultured Cells	--
38	chr14:69046800-69051000	Weak transcription	Fetal Thymus	thymus
39	chr14:69047000-69047800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr14:69047000-69047800	Enhancers	Small Intestine	intestine
41	chr14:69047200-69047600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr14:69047200-69047600	Enhancers	Fetal Lung	lung
43	chr14:69047200-69047600	Enhancers	Stomach Smooth Muscle	stomach
44	chr14:69047200-69047800	Enhancers	Primary neutrophils fromperipheralblood	blood
45	chr14:69047200-69048000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr14:69047200-69051600	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr14:69047200-69052000	Weak transcription	NH-A	brain
48	chr14:69047200-69052200	Weak transcription	HUVEC	blood vessel
49	chr14:69047400-69047600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr14:69047400-69047800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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