Variant report

Variant	rs190592
Chromosome Location	chr5:179330764-179330765
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:179259349..179261777-chr5:179328734..179330871,2	K562	blood:
2	chr5:179325019..179329362-chr5:179330614..179334824,8	K562	blood:
3	chr5:179245247..179250021-chr5:179326572..179331587,6	MCF-7	breast:
4	chr5:179316929..179318993-chr5:179328007..179332338,4	MCF-7	breast:
5	chr5:179330011..179331710-chr5:179335227..179337896,2	K562	blood:
6	chr5:179295070..179296912-chr5:179329695..179331816,2	K562	blood:

Variant related genes	Relation type
ENSG00000161011	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10054440	1.00[GIH][hapmap]
rs17079774	0.83[AMR][1000 genomes]
rs269469	1.00[MEX][hapmap]
rs269472	0.91[AMR][1000 genomes]
rs269473	0.96[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs269474	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs270330	0.92[YRI][hapmap];0.91[AMR][1000 genomes]
rs407437	1.00[MEX][hapmap]
rs418595	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv883270	chr5:178951106-179350387	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
2	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
3	nsv469579	chr5:179184831-179360191	Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
4	nsv883277	chr5:179193598-179350387	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179287200-179333600	Weak transcription	Right Atrium	heart
2	chr5:179295200-179334000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr5:179310400-179332000	Strong transcription	Fetal Intestine Large	intestine
4	chr5:179310800-179331400	Strong transcription	Primary T cells from cord blood	blood
5	chr5:179311000-179332000	Strong transcription	Stomach Smooth Muscle	stomach
6	chr5:179311000-179332600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr5:179311200-179332000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr5:179311200-179332000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr5:179311400-179332000	Strong transcription	Duodenum Mucosa	Duodenum
10	chr5:179311400-179332400	Strong transcription	Rectal Mucosa Donor 29	rectum
11	chr5:179311400-179333800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr5:179311600-179332000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr5:179311600-179332000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr5:179311600-179332200	Strong transcription	Primary B cells from peripheral blood	blood
15	chr5:179311600-179332200	Strong transcription	Cortex derived primary cultured neurospheres	brain
16	chr5:179311800-179332000	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr5:179311800-179332200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr5:179312000-179331800	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr5:179312000-179332000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr5:179312000-179332000	Strong transcription	Fetal Brain Female	brain
21	chr5:179312000-179332400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr5:179312000-179333000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr5:179312000-179333400	Weak transcription	Fetal Brain Male	brain
24	chr5:179312200-179332400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr5:179312200-179333200	Strong transcription	Placenta	Placenta
26	chr5:179312800-179331800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr5:179312800-179333400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr5:179313000-179332400	Strong transcription	Fetal Intestine Small	intestine
29	chr5:179313000-179333000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr5:179313200-179333200	Strong transcription	Fetal Stomach	stomach
31	chr5:179313600-179331600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr5:179313600-179333400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr5:179313800-179332200	Strong transcription	Dnd41	blood
34	chr5:179313800-179333200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr5:179314000-179332000	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr5:179315400-179333200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr5:179317200-179331800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr5:179318400-179331800	Strong transcription	Lung	lung
39	chr5:179320400-179333600	Weak transcription	Stomach Mucosa	stomach
40	chr5:179320800-179333200	Weak transcription	Small Intestine	intestine
41	chr5:179320800-179333400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr5:179321000-179333600	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr5:179321200-179333200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr5:179323800-179332200	Strong transcription	Liver	Liver
45	chr5:179324000-179332200	Strong transcription	Brain Germinal Matrix	brain
46	chr5:179324200-179332000	Strong transcription	Sigmoid Colon	Sigmoid Colon
47	chr5:179324400-179332000	Strong transcription	Thymus	Thymus
48	chr5:179324400-179332200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr5:179324400-179333000	Strong transcription	NHEK	skin
50	chr5:179324600-179332000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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