Variant report

Variant	rs999737
Chromosome Location	chr14:69034682-69034683
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:68924273..68927929-chr14:69034368..69037492,4	MCF-7	breast:
2	chr14:69032430..69035080-chr14:69056071..69058771,2	MCF-7	breast:
3	chr14:69027264..69032673-chr14:69034374..69038789,10	MCF-7	breast:
4	chr14:69033011..69036090-chr14:69041393..69045168,4	MCF-7	breast:
5	chr14:69028863..69039900-chr14:69256962..69265663,39	MCF-7	breast:
6	chr14:69033437..69035137-chr14:69037923..69040358,2	K562	blood:
7	chr14:69013020..69016426-chr14:69030419..69035616,4	MCF-7	breast:
8	chr14:69034656..69036292-chr14:69039582..69041305,3	MCF-7	breast:
9	chr14:69029510..69035367-chr14:69250877..69256211,7	MCF-7	breast:
10	chr14:69034578..69039415-chr14:69094170..69096793,5	MCF-7	breast:
11	chr14:68911957..68914084-chr14:69032259..69034812,2	MCF-7	breast:
12	chr14:69027748..69038857-chr14:69257974..69264472,24	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000259038	Chromatin interaction
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10143428	1.00[CHB][hapmap]
rs10149893	1.00[CHB][hapmap]
rs10483812	0.90[CEU][hapmap];0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10483813	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11621276	0.85[CEU][hapmap];0.93[MEX][hapmap];0.90[TSI][hapmap];0.87[AMR][1000 genomes]
rs11623966	1.00[CHB][hapmap]
rs11624097	0.80[CEU][hapmap]
rs11624164	0.80[CEU][hapmap];0.92[MEX][hapmap];0.83[TSI][hapmap]
rs11624333	0.80[CEU][hapmap];0.93[MEX][hapmap];0.83[TSI][hapmap]
rs11627234	1.00[CHB][hapmap]
rs11628293	0.95[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11629144	1.00[CHB][hapmap]
rs12889251	0.85[CEU][hapmap];0.87[AMR][1000 genomes]
rs17106069	1.00[CHB][hapmap]
rs17755925	0.85[CEU][hapmap];0.88[AMR][1000 genomes]
rs17756000	0.90[CEU][hapmap];0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17756147	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17828907	0.85[CEU][hapmap];0.90[TSI][hapmap];0.91[AMR][1000 genomes]
rs17828955	0.90[CEU][hapmap];0.91[AMR][1000 genomes]
rs17829281	1.00[CHB][hapmap]
rs17834977	1.00[CHB][hapmap]
rs2158357	0.95[CEU][hapmap];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34636650	0.91[AMR][1000 genomes]
rs4420467	1.00[CHB][hapmap]
rs4516148	1.00[CHB][hapmap]
rs7140546	1.00[CHB][hapmap]
rs71423314	0.85[AMR][1000 genomes]
rs71423316	0.90[AMR][1000 genomes]
rs71423317	0.88[AMR][1000 genomes]
rs71423318	0.91[AMR][1000 genomes]
rs7143663	1.00[CHB][hapmap]
rs739874	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs8009398	1.00[CHB][hapmap]
rs8009601	1.00[CHB][hapmap]

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	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
3	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
4	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

Variant related diseases (count:2)

Disease	PMID	Source
Breast cancer	23535729	GWAS catalog
Breast cancer	19330030	GWAS catalog

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69021000-69036200	Weak transcription	Brain Germinal Matrix	brain
2	chr14:69029200-69035000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr14:69029400-69035400	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr14:69029800-69036400	Weak transcription	Gastric	stomach
5	chr14:69030200-69035000	Enhancers	HepG2	liver
6	chr14:69030800-69035600	Weak transcription	Rectal Smooth Muscle	rectum
7	chr14:69030800-69036400	Weak transcription	Fetal Heart	heart
8	chr14:69030800-69041600	Weak transcription	NHLF	lung
9	chr14:69031200-69036200	Weak transcription	Brain Cingulate Gyrus	brain
10	chr14:69031200-69041800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr14:69031400-69035400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr14:69031600-69035200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr14:69031600-69035800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr14:69031600-69035800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr14:69031800-69035600	Weak transcription	Left Ventricle	heart
16	chr14:69031800-69036000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr14:69032000-69035800	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr14:69032000-69035800	Weak transcription	Colon Smooth Muscle	Colon
19	chr14:69032000-69036200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr14:69032000-69036200	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr14:69032200-69035200	Weak transcription	Stomach Smooth Muscle	stomach
22	chr14:69032200-69035600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr14:69032400-69035400	Weak transcription	Small Intestine	intestine
24	chr14:69032400-69035800	Weak transcription	NH-A	brain
25	chr14:69032400-69036000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr14:69032400-69041400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr14:69032600-69035200	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr14:69032600-69035400	Weak transcription	Fetal Stomach	stomach
29	chr14:69032600-69036400	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr14:69032800-69034800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr14:69032800-69035000	Weak transcription	Brain Anterior Caudate	brain
32	chr14:69032800-69035200	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr14:69032800-69035800	Weak transcription	Fetal Intestine Small	intestine
34	chr14:69032800-69035800	Weak transcription	Fetal Muscle Trunk	muscle
35	chr14:69032800-69036600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr14:69032800-69040800	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr14:69033000-69035000	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr14:69033000-69035800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr14:69033000-69039600	Weak transcription	Primary T cells from cord blood	blood
40	chr14:69033200-69041600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr14:69033400-69034800	Weak transcription	Stomach Mucosa	stomach
42	chr14:69033400-69035000	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr14:69033400-69035400	Weak transcription	Liver	Liver
44	chr14:69033400-69035400	Weak transcription	Brain Hippocampus Middle	brain
45	chr14:69033400-69035400	Weak transcription	Brain Substantia Nigra	brain
46	chr14:69033400-69035400	Weak transcription	HUVEC	blood vessel
47	chr14:69033400-69035600	Weak transcription	Esophagus	oesophagus
48	chr14:69033400-69035600	Weak transcription	Placenta	Placenta
49	chr14:69033400-69035600	Weak transcription	Lung	lung
50	chr14:69033400-69035800	Weak transcription	Fetal Kidney	kidney

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