Variant report

Variant	rs34506518
Chromosome Location	chr5:179333745-179333746
allele	-/G
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:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:179263833..179265410-chr5:179333194..179335753,2	K562	blood:
2	chr5:179227831..179231343-chr5:179333679..179336075,3	MCF-7	breast:
3	chr5:179231022..179234564-chr5:179332456..179334964,4	MCF-7	breast:
4	chr5:179284415..179287305-chr5:179333085..179336223,5	MCF-7	breast:
5	chr5:179231951..179234998-chr5:179332268..179335922,5	MCF-7	breast:
6	chr5:179312827..179319105-chr5:179330918..179335028,6	MCF-7	breast:
7	chr5:179333483..179336281-chr5:179498634..179500565,2	K562	blood:
8	chr5:179232711..179234875-chr5:179332233..179334161,2	K562	blood:
9	chr5:179325019..179329362-chr5:179330614..179334824,8	K562	blood:
10	chr5:179246876..179249284-chr5:179332914..179335716,2	MCF-7	breast:
11	chr5:179284572..179287253-chr5:179332885..179335031,4	MCF-7	breast:
12	chr5:179126146..179127712-chr5:179333460..179335651,2	MCF-7	breast:
13	chr5:179333483..179336002-chr5:179498536..179500364,3	K562	blood:
14	chr5:179332761..179336643-chr5:179497180..179500753,5	MCF-7	breast:
15	chr5:179297068..179300274-chr5:179333410..179335141,3	MCF-7	breast:
16	chr5:179297185..179299708-chr5:179331980..179334560,2	K562	blood:
17	chr5:179220191..179222591-chr5:179331659..179334767,3	MCF-7	breast:
18	chr5:179332164..179334090-chr5:179510604..179512176,2	MCF-7	breast:
19	chr5:179263833..179265352-chr5:179332066..179334694,2	K562	blood:
20	chr5:179247476..179250281-chr5:179333231..179336105,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000197226	Chromatin interaction
ENSG00000161011	Chromatin interaction
ENSG00000213316	Chromatin interaction
ENSG00000161010	Chromatin interaction
ENSG00000161013	Chromatin interaction
ENSG00000245317	Chromatin interaction
ENSG00000113269	Chromatin interaction
ENSG00000127022	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 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
8	esv3357023	chr5:179333371-179336219	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
9	esv3375542	chr5:179333746-179336144	Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	13 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	chr5:179295200-179334000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:179311400-179333800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr5:179326400-179333800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr5:179332000-179333800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr5:179332000-179334000	Weak transcription	Aorta	Aorta
6	chr5:179332600-179333800	Enhancers	Primary hematopoietic stem cells	blood
7	chr5:179333000-179333800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr5:179333000-179334000	Enhancers	Primary B cells from peripheral blood	blood
9	chr5:179333000-179334000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr5:179333200-179333800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr5:179333200-179333800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr5:179333200-179333800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr5:179333200-179333800	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr5:179333200-179333800	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
15	chr5:179333200-179333800	Enhancers	Liver	Liver
16	chr5:179333200-179333800	Enhancers	Brain Substantia Nigra	brain
17	chr5:179333200-179333800	Genic enhancers	Placenta	Placenta
18	chr5:179333200-179333800	Genic enhancers	Fetal Stomach	stomach
19	chr5:179333200-179333800	Enhancers	Gastric	stomach
20	chr5:179333200-179333800	Genic enhancers	Lung	lung
21	chr5:179333200-179333800	Enhancers	Ovary	ovary
22	chr5:179333200-179333800	Genic enhancers	Pancreas	Pancrea
23	chr5:179333200-179333800	Enhancers	Right Ventricle	heart
24	chr5:179333200-179333800	Genic enhancers	Skeletal Muscle Male	skeletal muscle
25	chr5:179333200-179334000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr5:179333200-179334000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr5:179333200-179334000	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr5:179333200-179334000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr5:179333200-179334000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr5:179333200-179334000	Enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr5:179333200-179334000	Enhancers	Small Intestine	intestine
32	chr5:179333200-179334000	Flanking Active TSS	Thymus	Thymus
33	chr5:179333200-179334000	Transcr. at gene 5' and 3'	Dnd41	blood
34	chr5:179333200-179334000	Flanking Active TSS	GM12878-XiMat	blood
35	chr5:179333200-179334000	Flanking Active TSS	HepG2	liver
36	chr5:179333200-179334200	Flanking Active TSS	Hela-S3	cervix
37	chr5:179333200-179334400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr5:179333200-179334400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr5:179333400-179333800	Enhancers	H1 Cell Line	embryonic stem cell
40	chr5:179333400-179333800	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr5:179333400-179333800	Enhancers	Primary B cells from cord blood	blood
42	chr5:179333400-179333800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr5:179333400-179333800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr5:179333400-179333800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
45	chr5:179333400-179333800	Enhancers	Brain Anterior Caudate	brain
46	chr5:179333400-179333800	Enhancers	Fetal Brain Male	brain
47	chr5:179333400-179333800	Enhancers	Placenta Amnion	Placenta Amnion
48	chr5:179333400-179333800	Enhancers	Spleen	Spleen
49	chr5:179333400-179333800	Flanking Active TSS	HSMM	muscle
50	chr5:179333400-179333800	Flanking Active TSS	Osteobl	bone

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