Variant report

Variant	rs2042045
Chromosome Location	chr14:77767978-77767979
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr14:77767091-77767996	SK-N-SH	brain:	n/a	chr14:77767338-77767348 chr14:77767654-77767664 chr14:77767336-77767348
2	CTCF	chr14:77767960-77768110	WI-38	lung:	n/a	n/a
3	CTCF	chr14:77767152-77768001	SK-N-SH	brain:	n/a	chr14:77767343-77767351
4	CTCF	chr14:77767078-77768039	A549	lung:	n/a	chr14:77767343-77767351
5	CTCF	chr14:77767039-77767994	MCF-7	breast:	n/a	chr14:77767343-77767351
6	KAP1	chr14:77767377-77768129	HEK293	kidney:	n/a	n/a
7	CTCF	chr14:77767143-77767988	HCT-116	colon:	n/a	chr14:77767343-77767351

No.	Distal block	Cell Line	Cell type
1	chr14:77767545..77768052-chr14:77786508..77787286,2	K562	blood:
2	chr14:77575647..77578577-chr14:77767520..77770068,3	MCF-7	breast:
3	chr14:77555272..77557237-chr14:77767673..77769236,2	MCF-7	breast:
4	chr14:77646733..77650700-chr14:77767687..77771144,4	MCF-7	breast:
5	chr14:77766406..77773210-chr14:77841892..77846481,6	MCF-7	breast:
6	chr14:77767554..77768255-chr14:77780481..77781305,2	MCF-7	breast:
7	chr14:77763316..77765397-chr14:77767519..77770397,2	K562	blood:
8	chr14:77767650..77771138-chr14:77923006..77925950,6	MCF-7	breast:
9	chr14:77608325..77612966-chr14:77767561..77771911,6	MCF-7	breast:
10	chr14:77767197..77768126-chr14:77786720..77787641,3	MCF-7	breast:
11	chr14:77765577..77770355-chr14:77785292..77788769,6	K562	blood:
12	chr14:77767504..77771365-chr14:77923200..77926224,4	MCF-7	breast:

Variant related genes	Relation type
POMT2	TF binding region
ENSG00000151445	Chromatin interaction
ENSG00000100591	Chromatin interaction
ENSG00000100583	Chromatin interaction
ENSG00000100577	Chromatin interaction
ENSG00000100580	Chromatin interaction
ENSG00000177108	Chromatin interaction
ENSG00000165548	Chromatin interaction
ENSG00000009830	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10138030	0.82[CHD][hapmap];0.87[JPT][hapmap]
rs11547793	0.91[JPT][hapmap]
rs11624564	0.86[CHB][hapmap];0.82[CHD][hapmap]
rs11624859	0.94[ASN][1000 genomes]
rs11626281	0.92[ASN][1000 genomes]
rs11627257	0.91[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.94[ASN][1000 genomes]
rs12431465	0.84[ASN][1000 genomes]
rs17105672	0.91[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.87[JPT][hapmap];0.82[MEX][hapmap];0.94[ASN][1000 genomes]
rs2098380	0.82[CHB][hapmap]
rs2111699	0.83[CEU][hapmap];0.95[CHB][hapmap];0.81[CHD][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs2193594	1.00[CHB][hapmap];0.88[CHD][hapmap];0.87[JPT][hapmap];0.89[ASN][1000 genomes]
rs2216089	0.86[CHB][hapmap]
rs2270421	0.95[CHB][hapmap];0.90[CHD][hapmap];0.81[JPT][hapmap];0.89[ASN][1000 genomes]
rs2270423	0.86[CHB][hapmap]
rs2287387	0.95[CHB][hapmap];0.84[CHD][hapmap];0.83[ASN][1000 genomes]
rs2287388	0.82[CHD][hapmap];0.91[JPT][hapmap]
rs2287392	0.82[CHD][hapmap];0.91[JPT][hapmap]
rs2287395	0.90[CHB][hapmap]
rs2363641	0.87[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2363642	0.89[ASN][1000 genomes]
rs2363643	0.83[CEU][hapmap];0.95[CHB][hapmap];0.83[CHD][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs2885854	0.94[ASN][1000 genomes]
rs3759733	0.81[CHD][hapmap];0.86[JPT][hapmap]
rs3783986	0.86[CHD][hapmap];0.82[JPT][hapmap]
rs3783988	0.91[JPT][hapmap]
rs3783989	0.91[JPT][hapmap]
rs3815626	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs4147578	0.94[CHB][hapmap]
rs4899650	0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs4903567	0.95[CHB][hapmap];0.84[CHD][hapmap];0.83[ASN][1000 genomes]
rs4903568	0.83[ASN][1000 genomes]
rs4903569	0.86[ASN][1000 genomes]
rs59630055	0.89[ASN][1000 genomes]
rs61990299	0.94[ASN][1000 genomes]
rs6574367	0.87[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs6574368	0.94[ASN][1000 genomes]
rs67873774	0.94[ASN][1000 genomes]
rs7142812	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7158951	0.86[CHB][hapmap];0.82[CHD][hapmap]
rs7159558	0.86[CHB][hapmap];0.80[JPT][hapmap]
rs7160188	0.89[ASN][1000 genomes]
rs7160195	0.94[ASN][1000 genomes]
rs8007615	0.94[ASN][1000 genomes]
rs8008449	0.89[ASN][1000 genomes]
rs8009261	0.86[CHB][hapmap];0.82[CHD][hapmap]
rs8009733	0.86[CHB][hapmap];0.82[CHD][hapmap]
rs8016187	0.91[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431017	chr14:76938089-77854647	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	107 gene(s)	inside rSNPs	diseases
2	nsv902105	chr14:77764884-77801431	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv902106	chr14:77767978-77801431	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2042045	GSTZ1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:77739600-77775600	Weak transcription	Primary T helper cells PMA-I stimulated	--
2	chr14:77740200-77769800	Weak transcription	Small Intestine	intestine
3	chr14:77741800-77773600	Weak transcription	GM12878-XiMat	blood
4	chr14:77742400-77780200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr14:77744000-77771400	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr14:77750800-77768000	Weak transcription	K562	blood
7	chr14:77751400-77769200	Weak transcription	NHLF	lung
8	chr14:77751400-77769800	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr14:77751400-77775600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr14:77751400-77786200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr14:77751800-77775600	Weak transcription	Thymus	Thymus
12	chr14:77752200-77775600	Weak transcription	Fetal Thymus	thymus
13	chr14:77752600-77773000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr14:77752600-77779200	Weak transcription	Fetal Heart	heart
15	chr14:77753600-77771800	Weak transcription	Fetal Brain Male	brain
16	chr14:77754600-77769200	Weak transcription	NHDF-Ad	bronchial
17	chr14:77754600-77771000	Weak transcription	Primary hematopoietic stem cells	blood
18	chr14:77760400-77773000	Strong transcription	Fetal Stomach	stomach
19	chr14:77761400-77769200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr14:77761400-77769600	Strong transcription	Aorta	Aorta
21	chr14:77761600-77768400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr14:77762200-77769200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr14:77762600-77772400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr14:77762800-77772200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr14:77762800-77774800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr14:77763400-77771200	Weak transcription	Primary B cells from cord blood	blood
27	chr14:77763600-77769000	Weak transcription	Osteobl	bone
28	chr14:77764000-77770000	Weak transcription	Fetal Kidney	kidney
29	chr14:77764800-77769200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr14:77764800-77769800	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr14:77765000-77772000	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr14:77765200-77768000	Weak transcription	Gastric	stomach
33	chr14:77765400-77770000	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr14:77765400-77772000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr14:77765600-77768000	Genic enhancers	Fetal Intestine Small	intestine
36	chr14:77765600-77768200	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr14:77765600-77769200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr14:77765600-77771600	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr14:77765600-77773200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr14:77765800-77768400	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr14:77765800-77768600	Strong transcription	Hela-S3	cervix
42	chr14:77766000-77768200	Weak transcription	HSMM	muscle
43	chr14:77766000-77768600	Weak transcription	Ovary	ovary
44	chr14:77766000-77769000	Weak transcription	HMEC	breast
45	chr14:77766000-77769000	Strong transcription	NHEK	skin
46	chr14:77766200-77768200	Enhancers	Fetal Intestine Large	intestine
47	chr14:77766200-77772600	Strong transcription	Dnd41	blood
48	chr14:77766200-77772800	Weak transcription	Colon Smooth Muscle	Colon
49	chr14:77766200-77775200	Weak transcription	Primary T cells from cord blood	blood
50	chr14:77766400-77768200	Weak transcription	Pancreas	Pancrea

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