Variant report

Variant	rs62376387
Chromosome Location	chr5:96142483-96142484
allele	G/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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:96121324..96124158-chr5:96141331..96143363,2	K562	blood:
2	chr5:96142046..96143805-chr5:96227568..96230564,2	MCF-7	breast:
3	chr5:96121088..96123332-chr5:96141994..96144285,2	MCF-7	breast:
4	chr5:96127204..96132361-chr5:96142290..96145057,7	MCF-7	breast:
5	chr5:96142348..96143873-chr5:96516638..96519268,2	K562	blood:
6	chr5:96142074..96145143-chr5:96212194..96215127,3	K562	blood:
7	chr5:96118629..96120777-chr5:96141002..96143083,2	K562	blood:
8	chr5:96140146..96144558-chr5:96269495..96273172,12	MCF-7	breast:
9	chr5:96118629..96120783-chr5:96140370..96143083,3	K562	blood:
10	chr5:96141925..96145850-chr5:96265867..96272606,9	K562	blood:
11	chr5:96140726..96144602-chr5:96269258..96273227,6	MCF-7	breast:
12	chr5:96125291..96127024-chr5:96141559..96143883,2	K562	blood:
13	chr5:96076665..96080894-chr5:96142161..96145119,4	K562	blood:
14	chr5:96078034..96080894-chr5:96142161..96145119,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000113441	Chromatin interaction
ENSG00000248734	Chromatin interaction
ENSG00000247121	Chromatin interaction
ENSG00000249180	Chromatin interaction
ENSG00000164308	Chromatin interaction
ENSG00000153113	Chromatin interaction
ENSG00000164307	Chromatin interaction
ENSG00000058729	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs62364750	0.81[AFR][1000 genomes]
rs62364751	0.81[AFR][1000 genomes]
rs62364753	0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015173	chr5:95987366-96153392	Genic enhancers Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	nsv432755	chr5:95987984-96657483	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	nsv830411	chr5:96045168-96187817	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv598962	chr5:96057891-96893164	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	nsv516293	chr5:96070205-96216387	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv948703	chr5:96078309-96368839	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic 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 target site	32 gene(s)	inside rSNPs	diseases
7	nsv1027472	chr5:96081592-96337550	Strong transcription Genic enhancers Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
8	nsv1028741	chr5:96082401-96372165	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
9	nsv949058	chr5:96082433-96390619	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
10	nsv598963	chr5:96084776-96363407	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
11	nsv432756	chr5:96113844-96234644	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
12	nsv531967	chr5:96127842-96302702	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96126800-96142800	Weak transcription	Brain Germinal Matrix	brain
2	chr5:96127000-96142600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr5:96127000-96142800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr5:96127400-96142600	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr5:96127400-96142600	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr5:96127400-96142600	Weak transcription	NH-A	brain
7	chr5:96127600-96142800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr5:96132200-96142800	Weak transcription	HSMM	muscle
9	chr5:96132600-96142600	Weak transcription	Fetal Brain Female	brain
10	chr5:96132800-96142600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr5:96133000-96142600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:96133000-96142600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr5:96133000-96142800	Weak transcription	Fetal Brain Male	brain
14	chr5:96133000-96142800	Weak transcription	HSMMtube	muscle
15	chr5:96133200-96142600	Weak transcription	HUVEC	blood vessel
16	chr5:96133200-96142800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr5:96133800-96142800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr5:96136000-96142600	Weak transcription	Fetal Heart	heart
19	chr5:96137000-96142600	Weak transcription	Osteobl	bone
20	chr5:96137000-96142800	Weak transcription	Fetal Muscle Trunk	muscle
21	chr5:96137200-96142600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr5:96137200-96142800	Weak transcription	Aorta	Aorta
23	chr5:96137200-96142800	Weak transcription	Psoas Muscle	Psoas
24	chr5:96138000-96142800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr5:96139400-96142800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr5:96139400-96142800	Weak transcription	Right Ventricle	heart
27	chr5:96139600-96142600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr5:96139600-96142600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr5:96139600-96142800	Weak transcription	Ovary	ovary
30	chr5:96140000-96142600	Enhancers	Primary T cells fromperipheralblood	blood
31	chr5:96140200-96142600	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr5:96140200-96142600	Enhancers	Primary B cells from peripheral blood	blood
33	chr5:96140200-96142600	Weak transcription	Placenta	Placenta
34	chr5:96140600-96142600	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr5:96141000-96142600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr5:96141200-96142600	Enhancers	Adipose Nuclei	Adipose
37	chr5:96141200-96142600	Enhancers	Liver	Liver
38	chr5:96141200-96142600	Enhancers	Colon Smooth Muscle	Colon
39	chr5:96141200-96142600	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr5:96141200-96142600	Enhancers	HepG2	liver
41	chr5:96141200-96142600	Enhancers	HMEC	breast
42	chr5:96141200-96143000	Flanking Active TSS	NHEK	skin
43	chr5:96141400-96142600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
44	chr5:96141400-96142600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr5:96141400-96142600	Enhancers	Brain Substantia Nigra	brain
46	chr5:96141400-96142600	Enhancers	Fetal Muscle Leg	muscle
47	chr5:96141400-96143000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
48	chr5:96141400-96143000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr5:96141600-96142600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr5:96141600-96142600	Enhancers	Brain Hippocampus Middle	brain

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