Variant report

Variant	rs190328
Chromosome Location	chr5:179398318-179398319
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:179391972..179394797-chr5:179396754..179398934,2	MCF-7	breast:
2	chr5:179394352..179395911-chr5:179396095..179398750,2	K562	blood:
3	chr5:179398138..179399671-chr5:179403829..179405701,2	K562	blood:
4	chr5:179387216..179389943-chr5:179396226..179399664,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000113269	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs155575	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs155576	0.96[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs155577	0.81[CEU][hapmap];0.87[YRI][hapmap]
rs248216	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs248321	0.80[CEU][hapmap]
rs248322	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs248327	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs248328	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs248329	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs248330	0.96[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs27010	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs27011	0.86[CHB][hapmap];0.85[JPT][hapmap];0.88[ASN][1000 genomes]
rs36750	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs389849	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67542237	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs705448	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]

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	nsv531997	chr5:179107599-179588082	Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	339 gene(s)	inside rSNPs	diseases
2	nsv1030437	chr5:179235423-179649944	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	189 gene(s)	inside rSNPs	diseases
3	nsv537982	chr5:179235423-179649944	Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	189 gene(s)	inside rSNPs	diseases
4	nsv948909	chr5:179249099-179772640	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
5	nsv830561	chr5:179365637-179537012	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	153 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179373400-179400600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:179373800-179401600	Weak transcription	Colonic Mucosa	Colon
3	chr5:179376600-179406600	Weak transcription	Psoas Muscle	Psoas
4	chr5:179380000-179410800	Weak transcription	Small Intestine	intestine
5	chr5:179380200-179401200	Weak transcription	Esophagus	oesophagus
6	chr5:179381000-179407800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:179381200-179402200	Weak transcription	Fetal Heart	heart
8	chr5:179381200-179405600	Weak transcription	NHLF	lung
9	chr5:179381600-179411800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:179381800-179402200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr5:179382000-179401400	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr5:179382200-179401400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr5:179382800-179400600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr5:179383200-179408600	Weak transcription	A549	lung
15	chr5:179386000-179401000	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr5:179388600-179404000	Weak transcription	HMEC	breast
17	chr5:179388800-179405000	Weak transcription	HUVEC	blood vessel
18	chr5:179388800-179405800	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr5:179389000-179405800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr5:179389200-179403400	Weak transcription	Hela-S3	cervix
21	chr5:179389400-179411400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr5:179391200-179403800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr5:179391800-179406200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr5:179392400-179402000	Strong transcription	Cortex derived primary cultured neurospheres	brain
25	chr5:179392600-179414800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr5:179393200-179401400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr5:179393200-179401400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr5:179393200-179404000	Weak transcription	NH-A	brain
29	chr5:179393600-179403400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr5:179393800-179401400	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr5:179393800-179401400	Weak transcription	Rectal Smooth Muscle	rectum
32	chr5:179394000-179399200	Weak transcription	Pancreas	Pancrea
33	chr5:179394000-179400200	Weak transcription	Spleen	Spleen
34	chr5:179394000-179400400	Weak transcription	Right Ventricle	heart
35	chr5:179394000-179401000	Weak transcription	Aorta	Aorta
36	chr5:179394000-179401200	Weak transcription	Fetal Intestine Large	intestine
37	chr5:179394200-179401400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr5:179394400-179400400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr5:179394400-179400400	Weak transcription	Gastric	stomach
40	chr5:179394400-179405200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr5:179395000-179401400	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr5:179395000-179403000	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr5:179395000-179405600	Weak transcription	Stomach Mucosa	stomach
44	chr5:179395200-179401800	Weak transcription	HepG2	liver
45	chr5:179396200-179400800	Weak transcription	Colon Smooth Muscle	Colon
46	chr5:179396200-179401000	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr5:179396400-179398800	Weak transcription	Fetal Kidney	kidney
48	chr5:179396400-179400200	Weak transcription	Brain Hippocampus Middle	brain
49	chr5:179396400-179400200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr5:179396400-179400400	Weak transcription	Fetal Intestine Small	intestine

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