Variant report

Variant	rs164629
Chromosome Location	chr5:14219278-14219279
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:14216973..14219606-chr5:14236627..14239606,2	MCF-7	breast:
2	chr5:14213925..14215636-chr5:14218273..14221061,2	MCF-7	breast:
3	chr5:14218014..14220716-chr5:14221301..14224995,3	MCF-7	breast:
4	chr5:14142853..14145531-chr5:14217598..14220636,3	MCF-7	breast:
5	chr5:14212915..14215891-chr5:14216884..14220454,4	MCF-7	breast:
6	chr5:14217255..14219345-chr5:14264896..14267843,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000038382	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11133784	0.91[CHB][hapmap]
rs149123	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs151899	1.00[CEU][hapmap];0.96[CHB][hapmap];0.96[JPT][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs151900	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs151924	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs164109	0.81[JPT][hapmap]
rs164862	0.87[JPT][hapmap]
rs164863	0.82[JPT][hapmap]
rs165095	0.81[JPT][hapmap]
rs16903264	0.91[JPT][hapmap]
rs171592	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs245445	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs248899	0.90[ASN][1000 genomes]
rs26114	0.95[ASN][1000 genomes]
rs26136	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs26137	0.95[ASN][1000 genomes]
rs26280	0.91[CHB][hapmap]
rs26281	0.85[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs26289	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs27463	0.94[ASN][1000 genomes]
rs28014	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs28030	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs32340	0.81[JPT][hapmap]
rs32392	0.90[ASN][1000 genomes]
rs32548	0.94[ASN][1000 genomes]
rs32549	0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs32571	0.82[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap]
rs33004	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs33007	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs33027	0.84[ASN][1000 genomes]
rs352112	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs39617	0.94[ASN][1000 genomes]
rs544588	0.86[CHB][hapmap];0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs556928	0.92[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534466	chr5:13847044-14246208	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	esv1830112	chr5:14147376-14222601	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	esv1825924	chr5:14147376-14270450	Flanking Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv830209	chr5:14154989-14301758	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv948355	chr5:14160447-14395478	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14213000-14223600	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr5:14214800-14220800	Enhancers	HepG2	liver
3	chr5:14215000-14222600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr5:14215200-14219600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr5:14215200-14221000	Enhancers	NHDF-Ad	bronchial
6	chr5:14215200-14222800	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr5:14215400-14220400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr5:14215400-14221600	Enhancers	GM12878-XiMat	blood
9	chr5:14215600-14223400	Enhancers	Sigmoid Colon	Sigmoid Colon
10	chr5:14216000-14219800	Enhancers	HMEC	breast
11	chr5:14216000-14220000	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr5:14216000-14220600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr5:14216000-14221600	Enhancers	Muscle Satellite Cultured Cells	--
14	chr5:14216000-14221600	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr5:14216000-14222000	Enhancers	Primary B cells from peripheral blood	blood
16	chr5:14216000-14223800	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr5:14216000-14225800	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr5:14216200-14219600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr5:14216200-14220600	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr5:14216200-14221000	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr5:14216200-14221400	Enhancers	Small Intestine	intestine
22	chr5:14216200-14221600	Enhancers	Fetal Heart	heart
23	chr5:14216200-14221800	Enhancers	Duodenum Smooth Muscle	Duodenum
24	chr5:14216200-14221800	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr5:14216400-14221600	Enhancers	HSMMtube	muscle
26	chr5:14216400-14222600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr5:14216600-14219800	Enhancers	Fetal Stomach	stomach
28	chr5:14216600-14222000	Enhancers	Left Ventricle	heart
29	chr5:14216800-14219800	Enhancers	Placenta	Placenta
30	chr5:14216800-14220000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr5:14216800-14221200	Enhancers	Fetal Muscle Leg	muscle
32	chr5:14216800-14221400	Enhancers	Duodenum Mucosa	Duodenum
33	chr5:14216800-14221800	Enhancers	Fetal Intestine Small	intestine
34	chr5:14216800-14222000	Enhancers	Adipose Nuclei	Adipose
35	chr5:14216800-14222000	Enhancers	Fetal Intestine Large	intestine
36	chr5:14216800-14227200	Weak transcription	Hela-S3	cervix
37	chr5:14217000-14219800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr5:14217000-14219800	Enhancers	Lung	lung
39	chr5:14217000-14219800	Enhancers	Pancreas	Pancrea
40	chr5:14217000-14219800	Enhancers	Right Ventricle	heart
41	chr5:14217000-14220400	Enhancers	Brain Germinal Matrix	brain
42	chr5:14217000-14221200	Enhancers	NH-A	brain
43	chr5:14217000-14221400	Enhancers	Liver	Liver
44	chr5:14217000-14221800	Enhancers	Primary B cells from cord blood	blood
45	chr5:14217000-14234600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr5:14217200-14219800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr5:14217200-14220200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr5:14217400-14219800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr5:14217400-14219800	Enhancers	Brain Cingulate Gyrus	brain
50	chr5:14217400-14219800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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