Variant report

Variant	rs17755657
Chromosome Location	chr14:68880637-68880638
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:68878300..68881493-chr14:69259065..69264364,5	MCF-7	breast:
2	chr14:68879521..68881175-chr14:69256240..69258529,2	MCF-7	breast:
3	chr14:68878806..68882787-chr14:68883968..68886756,5	MCF-7	breast:
4	chr14:68656816..68658573-chr14:68879129..68882027,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1108007	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs11846360	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs11847185	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs11849044	0.95[CEU][hapmap];0.81[AMR][1000 genomes]
rs11849916	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs11850581	0.89[YRI][hapmap]
rs17105463	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs17105469	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs17105515	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs17105573	0.83[LWK][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs17105675	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs17755734	0.85[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap]
rs17755752	0.85[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap]
rs17828691	0.85[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs17828721	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs17828763	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs1956535	1.00[JPT][hapmap]
rs28405320	0.81[AMR][1000 genomes]
rs35190649	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3784121	1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73276270	0.88[AFR][1000 genomes]
rs73276281	0.83[EUR][1000 genomes]
rs7359088	0.91[CEU][hapmap];0.92[GIH][hapmap];0.90[MEX][hapmap];0.85[TSI][hapmap];0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869154	chr14:68366754-69041768	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17755657	MED6	cis	cerebellum	SCAN
rs17755657	MAP3K9	cis	parietal	SCAN

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68867200-68886400	Weak transcription	Dnd41	blood
2	chr14:68868200-68887200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr14:68871800-68880800	Weak transcription	Fetal Lung	lung
4	chr14:68872200-68883400	Weak transcription	Esophagus	oesophagus
5	chr14:68873400-68883800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr14:68875000-68883800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr14:68875000-68883800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr14:68875400-68881400	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr14:68875400-68884200	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr14:68876400-68880800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr14:68876400-68882000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr14:68877000-68885600	Weak transcription	Primary T cells from cord blood	blood
13	chr14:68877000-68886000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr14:68877200-68881800	Weak transcription	Primary B cells from peripheral blood	blood
15	chr14:68877200-68890600	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr14:68877400-68881200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr14:68877400-68881800	Weak transcription	Fetal Muscle Leg	muscle
18	chr14:68877400-68882000	Weak transcription	Pancreas	Pancrea
19	chr14:68877400-68882800	Weak transcription	Primary B cells from cord blood	blood
20	chr14:68877400-68885200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr14:68879000-68881400	Enhancers	Hela-S3	cervix
22	chr14:68879200-68881400	Enhancers	Fetal Intestine Large	intestine
23	chr14:68879200-68882400	Enhancers	Fetal Intestine Small	intestine
24	chr14:68879400-68881000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr14:68879400-68881000	Enhancers	K562	blood
26	chr14:68879400-68882600	Enhancers	Stomach Mucosa	stomach
27	chr14:68879800-68881000	Enhancers	Primary hematopoietic stem cells	blood
28	chr14:68880000-68885000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr14:68880200-68880800	Enhancers	Fetal Kidney	kidney
30	chr14:68880200-68882400	Enhancers	A549	lung
31	chr14:68880200-68885000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr14:68880200-68885000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr14:68880200-68885000	Weak transcription	NHEK	skin
34	chr14:68880400-68881400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr14:68880400-68881600	Enhancers	Small Intestine	intestine
36	chr14:68880400-68882400	Enhancers	Ovary	ovary
37	chr14:68880400-68884200	Enhancers	Colon Smooth Muscle	Colon
38	chr14:68880400-68885000	Weak transcription	HMEC	breast
39	chr14:68880600-68884200	Enhancers	Fetal Stomach	stomach

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