Variant report

Variant	rs17679127
Chromosome Location	chr14:103890091-103890092
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:103883876..103886732-chr14:103888841..103890509,2	MCF-7	breast:
2	chr14:103887007..103890737-chr14:103900205..103902802,3	MCF-7	breast:
3	chr14:103801788..103804728-chr14:103887482..103891031,3	K562	blood:

Variant related genes	Relation type
ENSG00000272533	Chromatin interaction
ENSG00000100664	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs17617994	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17679259	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2296485	1.00[JPT][hapmap]
rs3759582	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8014182	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049747	chr14:103126148-103955984	Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	113 gene(s)	inside rSNPs	diseases
2	nsv534254	chr14:103470073-104023906	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription 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	125 gene(s)	inside rSNPs	diseases
3	nsv9168	chr14:103531729-103913306	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
4	esv3332028	chr14:103581471-104328811	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	162 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17679127	C14orf153	cis	cerebellum	SCAN

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:103862000-103919400	Weak transcription	Colonic Mucosa	Colon
2	chr14:103874600-103900800	Weak transcription	Rectal Smooth Muscle	rectum
3	chr14:103875200-103893600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr14:103875400-103892200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr14:103875400-103893600	Weak transcription	Brain Germinal Matrix	brain
6	chr14:103875600-103893800	Weak transcription	Fetal Heart	heart
7	chr14:103875600-103894000	Weak transcription	Fetal Brain Male	brain
8	chr14:103879000-103892800	Weak transcription	Spleen	Spleen
9	chr14:103879000-103895200	Weak transcription	Duodenum Mucosa	Duodenum
10	chr14:103879000-103914200	Weak transcription	Esophagus	oesophagus
11	chr14:103879000-103941400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr14:103880400-103894200	Weak transcription	Liver	Liver
13	chr14:103880400-103904600	Weak transcription	Fetal Kidney	kidney
14	chr14:103881000-103890600	Weak transcription	Fetal Muscle Trunk	muscle
15	chr14:103881000-103900600	Weak transcription	Placenta	Placenta
16	chr14:103883000-103894400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr14:103883200-103892800	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr14:103883200-103893800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr14:103883400-103892800	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr14:103883400-103893600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr14:103883400-103900000	Weak transcription	Fetal Thymus	thymus
22	chr14:103883600-103892600	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr14:103883600-103892800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr14:103883600-103894000	Weak transcription	Fetal Brain Female	brain
25	chr14:103883600-103894000	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr14:103883800-103892200	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr14:103883800-103894000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr14:103883800-103896800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr14:103884000-103895400	Weak transcription	Stomach Mucosa	stomach
30	chr14:103884200-103892200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr14:103884200-103893600	Weak transcription	HUVEC	blood vessel
32	chr14:103884200-103897200	Weak transcription	Fetal Intestine Small	intestine
33	chr14:103884800-103892000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr14:103885000-103893600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr14:103885000-103893800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr14:103885000-103893800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr14:103885000-103894000	Weak transcription	Small Intestine	intestine
38	chr14:103885200-103892200	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr14:103885200-103892400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr14:103885200-103894000	Weak transcription	HMEC	breast
41	chr14:103885400-103893800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr14:103886800-103893600	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr14:103887000-103890200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr14:103887200-103890200	Strong transcription	Dnd41	blood
45	chr14:103887200-103892600	Strong transcription	Primary T cells from cord blood	blood
46	chr14:103887400-103891200	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr14:103887400-103891200	Strong transcription	NHEK	skin
48	chr14:103887400-103892200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr14:103887600-103890600	Weak transcription	Primary B cells from cord blood	blood
50	chr14:103887800-103893600	Weak transcription	Brain Substantia Nigra	brain

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