Variant report

Variant	rs34862489
Chromosome Location	chr5:179674357-179674358
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:179674356-179674406	AG09309	skin:	n/a
2	chr5:179674356-179674406	GM19239	blood:	n/a
3	chr5:179674356-179674406	Caco-2	colon:	n/a
4	chr5:179674356-179674406	NHBE	bronchial:	n/a
5	chr5:179674356-179674406	HIPEpiC	eye:	n/a
6	chr5:179674356-179674406	SK-N-MC	brain:	n/a
7	chr5:179674356-179674406	GM06990	blood:	n/a
8	chr5:179674356-179674406	HCPEpiC	choroid plexus:	n/a
9	chr5:179674356-179674406	HL-60	blood:	n/a
10	chr5:179674356-179674406	Hepatocyte	liver:	n/a
11	chr5:179674356-179674406	HRCEpiC	kidney:	n/a
12	chr5:179674356-179674406	Hela-S3	cervix:	n/a
13	chr5:179674356-179674406	HUVEC	blood vessel:	n/a
14	chr5:179674356-179674406	HCM	heart:	n/a
15	chr5:179674356-179674406	HCF	heart:	n/a
16	chr5:179674356-179674406	ECC-1	luminal epithelium:	n/a
17	chr5:179674356-179674406	NH-A	brain:	n/a
18	chr5:179674356-179674406	HAEpiC	amniotic membrane:	n/a
19	chr5:179674356-179674406	RPTEC	kidney:	n/a
20	chr5:179674356-179674406	H1-hESC	embryonic stem cell:	embryo
21	chr5:179674356-179674406	HRPEpiC	eye:	n/a
22	chr5:179674356-179674406	LNCaP	prostate:	n/a
23	chr5:179674356-179674406	GM12878	blood:	n/a
24	chr5:179674356-179674406	IMR90	lung:	fetal
25	chr5:179674356-179674406	SK-N-SH_RA	brain:	n/a
26	chr5:179674356-179674406	HepG2	liver:	n/a
27	chr5:179674356-179674406	T-47D	breast:	n/a
28	chr5:179674356-179674406	AG04449	skin:	fetal
29	chr5:179674356-179674406	HCT-116	colon:	n/a
30	chr5:179674356-179674406	HEK293	kidney:	embryo
31	chr5:179674356-179674406	CMK	blood:	n/a
32	chr5:179674356-179674406	Jurkat	blood:	n/a
33	chr5:179674356-179674406	ovcar-3	ovarian:	n/a
34	chr5:179674356-179674406	GM12892	blood:	n/a
35	chr5:179674356-179674406	MCF-7	breast:	n/a
36	chr5:179674356-179674406	SK-N-SH	brain:	n/a
37	chr5:179674356-179674406	HMEC	breast:	n/a
38	chr5:179674356-179674406	SAEC	small airway:	n/a
39	chr5:179674356-179674406	AG04450	lung:	fetal
40	chr5:179674356-179674406	NHDF-neo	bronchial:	n/a
41	chr5:179674356-179674406	BE2_C	brain:	n/a
42	chr5:179674356-179674406	SKMC	muscle:	n/a
43	chr5:179674356-179674406	K562	blood:	n/a
44	chr5:179674356-179674406	HEEpiC	esophagus:	n/a
45	chr5:179674356-179674406	HNPCEpiC	eye:	n/a
46	chr5:179674356-179674406	A549	lung:	n/a
47	chr5:179674356-179674406	HRE	kidney:	n/a
48	chr5:179674356-179674406	AG09319	gingival:	n/a
49	chr5:179674356-179674406	MCF10A-Er-Src	breast:	n/a
50	chr5:179674356-179674406	U87	brain:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:179672853..179674649-chr5:179677666..179679886,2	MCF-7	breast:
2	chr5:179666172..179667726-chr5:179673656..179675626,2	MCF-7	breast:
3	chr5:179673735..179676191-chr5:179686105..179688393,2	MCF-7	breast:
4	chr5:179669950..179671788-chr5:179672215..179674940,2	MCF-7	breast:

No data

Variant related genes	Relation type
MAPK9	CpG island

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs17627580	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17627695	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17684072	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34313563	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34430669	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34517134	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34520158	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34755646	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34868204	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35065534	1.00[ASN][1000 genomes]
rs35700033	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35827396	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36048247	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6887544	1.00[ASN][1000 genomes]
rs6891707	1.00[EUR][1000 genomes]
rs73811335	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv1033706	chr5:179402769-179806356	Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
3	esv2758032	chr5:179534477-179729944	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	esv2759398	chr5:179534477-179729944	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv1023914	chr5:179649883-180040672	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv537983	chr5:179649883-180040672	Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179651600-179678000	Weak transcription	Fetal Heart	heart
2	chr5:179653600-179714600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr5:179655000-179679600	Weak transcription	Stomach Mucosa	stomach
4	chr5:179655400-179712600	ZNF genes & repeats	Liver	Liver
5	chr5:179655800-179675400	Strong transcription	Primary B cells from cord blood	blood
6	chr5:179656200-179675000	Strong transcription	Skeletal Muscle Female	skeletal muscle
7	chr5:179656600-179703000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
8	chr5:179657400-179674400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr5:179657800-179674400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr5:179657800-179697000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr5:179658400-179679200	Strong transcription	Primary T cells from cord blood	blood
12	chr5:179658800-179680400	Weak transcription	Fetal Kidney	kidney
13	chr5:179659000-179677600	Strong transcription	Dnd41	blood
14	chr5:179659400-179674800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr5:179660200-179679800	Weak transcription	HUVEC	blood vessel
16	chr5:179660400-179677600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr5:179660800-179706800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr5:179664400-179677000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr5:179665800-179696600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr5:179666000-179697000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
21	chr5:179666400-179674600	Strong transcription	A549	lung
22	chr5:179668000-179674400	Weak transcription	Brain Angular Gyrus	brain
23	chr5:179668000-179678400	Weak transcription	Brain Substantia Nigra	brain
24	chr5:179668200-179674400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr5:179668200-179674400	Weak transcription	NHLF	lung
26	chr5:179668200-179696800	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
27	chr5:179669400-179674800	Weak transcription	Brain Germinal Matrix	brain
28	chr5:179669400-179675200	Weak transcription	Hela-S3	cervix
29	chr5:179669400-179676000	Weak transcription	Psoas Muscle	Psoas
30	chr5:179669400-179683600	Weak transcription	K562	blood
31	chr5:179669800-179678200	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
32	chr5:179670200-179681600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr5:179670200-179712800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr5:179670400-179676200	Weak transcription	Fetal Brain Male	brain
35	chr5:179670800-179674800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr5:179671200-179674400	Strong transcription	Skeletal Muscle Male	skeletal muscle
37	chr5:179671200-179694000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
38	chr5:179672000-179674600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr5:179672400-179674400	Weak transcription	NHEK	skin
40	chr5:179672400-179674600	Strong transcription	Rectal Smooth Muscle	rectum
41	chr5:179672600-179677600	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr5:179672800-179674400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr5:179672800-179674800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr5:179673000-179674400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr5:179673000-179675800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr5:179673000-179677000	Strong transcription	HUES48 Cell Line	embryonic stem cell
47	chr5:179673200-179674400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr5:179673200-179675000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr5:179673200-179675800	Strong transcription	NH-A	brain
50	chr5:179673400-179674600	Strong transcription	Primary B cells from peripheral blood	blood

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