Variant report

Variant	rs1504976
Chromosome Location	chr5:118606879-118606880
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:118606692..118610066-chr5:118616114..118619938,5	K562	blood:
2	chr5:118606735..118608940-chr5:118610555..118612827,2	MCF-7	breast:
3	chr5:118605019..118607417-chr5:118636347..118638717,3	MCF-7	breast:
4	chr11:64878891..64879742-chr5:118606808..118607308,2	NB4	blood:
5	chr5:118602128..118606181-chr5:118606426..118611824,11	MCF-7	breast:
6	chr5:118604990..118607098-chr5:118752315..118754043,2	K562	blood:

Variant related genes	Relation type
ENSG00000254501	Chromatin interaction
ENSG00000145779	Chromatin interaction
ENSG00000149809	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10035593	0.90[EUR][1000 genomes]
rs10037918	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs10051559	1.00[CEU][hapmap];0.83[TSI][hapmap];0.86[EUR][1000 genomes]
rs10072072	1.00[CEU][hapmap];0.85[GIH][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes]
rs10075997	0.93[EUR][1000 genomes]
rs11241487	1.00[CEU][hapmap]
rs1394628	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs1504974	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1504975	1.00[CEU][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes]
rs1553542	0.84[EUR][1000 genomes]
rs17145013	0.89[CHB][hapmap];0.82[JPT][hapmap]
rs1857771	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2271059	1.00[CEU][hapmap];0.83[TSI][hapmap];0.86[EUR][1000 genomes]
rs2404397	1.00[CEU][hapmap];0.83[TSI][hapmap];0.88[EUR][1000 genomes]
rs2896839	1.00[CEU][hapmap];0.83[TSI][hapmap];0.83[EUR][1000 genomes]
rs2896840	1.00[CEU][hapmap];0.83[TSI][hapmap];0.90[EUR][1000 genomes]
rs3797337	1.00[CEU][hapmap];0.90[CHB][hapmap];0.88[MEX][hapmap];0.83[TSI][hapmap];0.81[EUR][1000 genomes]
rs3992620	1.00[CEU][hapmap];0.83[TSI][hapmap];0.81[EUR][1000 genomes]
rs6860412	0.90[CHB][hapmap]
rs6880106	1.00[CEU][hapmap];0.83[TSI][hapmap]
rs73242994	0.81[EUR][1000 genomes]
rs73242996	0.81[EUR][1000 genomes]
rs7736744	0.88[EUR][1000 genomes]
rs9327092	1.00[CEU][hapmap];0.86[MEX][hapmap];0.88[EUR][1000 genomes]

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	nsv462426	chr5:118465249-118621672	Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv599564	chr5:118465249-118621672	ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv1016595	chr5:118468658-118621672	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1019788	chr5:118488501-118607405	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv537882	chr5:118488501-118607405	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	esv2757136	chr5:118555863-118667748	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	esv2759374	chr5:118555863-118667748	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118603800-118607000	Active TSS	Primary T helper naive cells from peripheral blood	blood
2	chr5:118604000-118607000	Active TSS	Primary T helper cells PMA-I stimulated	--
3	chr5:118604400-118608000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
4	chr5:118604600-118607000	Flanking Active TSS	Primary hematopoietic stem cells	blood
5	chr5:118604600-118607800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr5:118604800-118607800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr5:118604800-118612000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
8	chr5:118605000-118608000	Flanking Active TSS	Primary B cells from cord blood	blood
9	chr5:118605000-118611800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr5:118605200-118607000	Active TSS	Rectal Mucosa Donor 29	rectum
11	chr5:118605200-118607200	Weak transcription	Spleen	Spleen
12	chr5:118605200-118607800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr5:118605400-118607000	Weak transcription	Small Intestine	intestine
14	chr5:118605400-118607200	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
15	chr5:118605400-118607200	Weak transcription	Gastric	stomach
16	chr5:118605400-118607200	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr5:118605400-118608000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr5:118605400-118608400	Weak transcription	Esophagus	oesophagus
19	chr5:118605400-118609000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr5:118605400-118609000	Enhancers	Fetal Heart	heart
21	chr5:118605400-118609200	Weak transcription	Fetal Muscle Trunk	muscle
22	chr5:118605400-118609200	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr5:118605400-118609400	Weak transcription	Colonic Mucosa	Colon
24	chr5:118605400-118609600	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr5:118605400-118609800	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr5:118605400-118609800	Weak transcription	NH-A	brain
27	chr5:118605400-118609800	Weak transcription	Osteobl	bone
28	chr5:118605400-118610000	Weak transcription	Liver	Liver
29	chr5:118605400-118610200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr5:118605400-118610400	Weak transcription	Brain Hippocampus Middle	brain
31	chr5:118605400-118611200	Weak transcription	Lung	lung
32	chr5:118605400-118621000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr5:118605600-118607000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr5:118605600-118607200	Weak transcription	Aorta	Aorta
35	chr5:118605600-118607200	Weak transcription	Right Atrium	heart
36	chr5:118605600-118607800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr5:118605600-118608400	Weak transcription	Fetal Muscle Leg	muscle
38	chr5:118605600-118608400	Weak transcription	Right Ventricle	heart
39	chr5:118605600-118608600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr5:118605600-118608800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr5:118605600-118608800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr5:118605600-118608800	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr5:118605600-118608800	Weak transcription	Fetal Intestine Small	intestine
44	chr5:118605600-118608800	Weak transcription	HMEC	breast
45	chr5:118605600-118609000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr5:118605600-118609200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr5:118605600-118609200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr5:118605600-118609200	Weak transcription	Fetal Intestine Large	intestine
49	chr5:118605600-118609400	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr5:118605600-118611800	Enhancers	HUES6 Cell Line	embryonic stem cell

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