Variant report

Variant	rs467076
Chromosome Location	chr5:118753515-118753516
allele	C/T
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:118739304..118742654-chr5:118752620..118755578,3	K562	blood:
2	chr5:118746206..118749496-chr5:118750368..118755239,5	K562	blood:
3	chr5:118655474..118659015-chr5:118750147..118754859,4	K562	blood:
4	chr1:78148836..78149503-chr5:118753345..118754288,2	NB4	blood:
5	chr5:118747162..118749496-chr5:118752473..118755239,2	K562	blood:
6	chr5:118405948..118407537-chr5:118753041..118754895,2	MCF-7	breast:
7	chr5:118753173..118755307-chr5:118768998..118771173,2	MCF-7	breast:
8	chr5:118408484..118411107-chr5:118751959..118754643,2	K562	blood:
9	chr5:118604990..118607098-chr5:118752315..118754043,2	K562	blood:
10	chr5:118735386..118738101-chr5:118752192..118755044,3	K562	blood:
11	chr5:118629010..118630794-chr5:118752161..118754078,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000249494	Chromatin interaction
ENSG00000036549	Chromatin interaction
ENSG00000172869	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs2451804	0.92[ASN][1000 genomes]
rs2451818	1.00[ASN][1000 genomes]
rs2459726	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs257981	0.92[ASN][1000 genomes]
rs258049	0.92[ASN][1000 genomes]
rs258052	0.90[ASN][1000 genomes]
rs26181	1.00[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap]
rs26184	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2636961	0.83[CHD][hapmap];1.00[JPT][hapmap]
rs2636964	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2636968	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2678070	1.00[CHB][hapmap]
rs27938	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs32651	1.00[CHB][hapmap]
rs382719	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs422297	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs426899	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs439954	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs442923	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs450118	1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap]
rs455318	1.00[ASN][1000 genomes]
rs462756	0.98[ASN][1000 genomes]
rs463513	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030717	chr5:118709310-118836951	Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv427732	chr5:118730999-119034741	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv965533	chr5:118738884-118762384	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
4	nsv4974	chr5:118750259-118795376	Genic enhancers Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118707600-118754600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr5:118748000-118753600	Weak transcription	HMEC	breast
3	chr5:118748000-118753600	Weak transcription	NH-A	brain
4	chr5:118748000-118753800	Weak transcription	NHEK	skin
5	chr5:118748000-118754000	Weak transcription	Esophagus	oesophagus
6	chr5:118748000-118754400	Weak transcription	Placenta	Placenta
7	chr5:118748000-118755400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr5:118748200-118753600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr5:118748200-118753600	Weak transcription	Primary T cells from cord blood	blood
10	chr5:118748200-118753600	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr5:118748200-118753600	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr5:118748200-118753600	Weak transcription	Colon Smooth Muscle	Colon
13	chr5:118748200-118755000	Weak transcription	Liver	Liver
14	chr5:118748800-118753600	Weak transcription	Brain Angular Gyrus	brain
15	chr5:118748800-118753800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr5:118750400-118753800	Weak transcription	Primary hematopoietic stem cells	blood
17	chr5:118752600-118753600	Enhancers	K562	blood
18	chr5:118752600-118756800	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr5:118752800-118753600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr5:118752800-118754800	Enhancers	Stomach Mucosa	stomach
21	chr5:118753000-118754800	Enhancers	Hela-S3	cervix
22	chr5:118753200-118753800	Enhancers	Primary B cells from cord blood	blood
23	chr5:118753200-118754000	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr5:118753200-118754000	Enhancers	Fetal Thymus	thymus
25	chr5:118753200-118754800	Enhancers	Dnd41	blood
26	chr5:118753200-118756800	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr5:118753200-118757200	Enhancers	Primary B cells from peripheral blood	blood
28	chr5:118753400-118753800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr5:118753400-118753800	Enhancers	Brain Cingulate Gyrus	brain
30	chr5:118753400-118754000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr5:118753400-118754200	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr5:118753400-118754200	Enhancers	H1 Cell Line	embryonic stem cell
33	chr5:118753400-118754200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr5:118753400-118754200	Enhancers	H9 Cell Line	embryonic stem cell
35	chr5:118753400-118754200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr5:118753400-118754200	Enhancers	Placenta Amnion	Placenta Amnion
37	chr5:118753400-118754400	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr5:118753400-118754400	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr5:118753400-118754600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
40	chr5:118753400-118754800	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr5:118753400-118754800	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr5:118753400-118754800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr5:118753400-118754800	Enhancers	Thymus	Thymus
44	chr5:118753400-118754800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
45	chr5:118753400-118756600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr5:118753400-118756800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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