Variant report

Variant	rs6751956
Chromosome Location	chr2:172291616-172291617
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:27)
CpG islands
(count:0)
Chromatin interactive
region (count:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:27 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	PML	chr2:172289483-172291649	GM12878	blood:	n/a	n/a
2	POLR2A	chr2:172289648-172291861	PBDE	blood:	n/a	n/a
3	MAX	chr2:172289463-172291627	A549	lung:	n/a	n/a
4	POLR2A	chr2:172290186-172291643	IMR90	lung:	n/a	n/a
5	IRF1	chr2:172289288-172292058	K562	blood:	n/a	chr2:172291878-172291890 chr2:172291567-172291583 chr2:172291878-172291889 chr2:172290257-172290271 chr2:172290655-172290669
6	TBP	chr2:172289534-172291689	K562	blood:	n/a	n/a
7	POLR2A	chr2:172289216-172291660	MCF10A-Er-Src	breast:	n/a	n/a
8	STAT3	chr2:172291284-172291673	MCF10A-Er-Src	breast:	n/a	n/a
9	CUX1	chr2:172291353-172291866	K562	blood:	n/a	n/a
10	HCFC1	chr2:172289553-172291717	Hela-S3	cervix:	n/a	n/a
11	MYC	chr2:172289382-172291709	A549	lung:	n/a	n/a
12	MAX	chr2:172289473-172291641	HepG2	liver:	n/a	n/a
13	TBL1XR1	chr2:172289617-172291624	K562	blood:	n/a	n/a
14	EP300	chr2:172291227-172291727	GM12878	blood:	n/a	n/a
15	BRCA1	chr2:172289690-172291681	Hela-S3	cervix:	n/a	n/a
16	CUX1	chr2:172291217-172291765	GM12878	blood:	n/a	n/a
17	POLR2A	chr2:172289254-172291781	MCF10A-Er-Src	breast:	n/a	n/a
18	POLR2A	chr2:172289586-172291626	H1-hESC	embryonic stem cell:	n/a	n/a
19	MAX	chr2:172289497-172291633	HCT-116	colon:	n/a	n/a
20	MAZ	chr2:172290154-172291874	IMR90	lung:	n/a	n/a
21	MAX	chr2:172289403-172291664	HCT-116	colon:	n/a	n/a
22	MXI1	chr2:172289382-172291804	IMR90	lung:	n/a	n/a
23	MXI1	chr2:172289497-172292342	SK-N-SH	brain:	n/a	n/a
24	SIN3AK20	chr2:172289434-172291625	HCT-116	colon:	n/a	n/a
25	IRF1	chr2:172291181-172291915	K562	blood:	n/a	chr2:172291878-172291890 chr2:172291567-172291583 chr2:172291878-172291889
26	POLR2A	chr2:172289539-172291741	K562	blood:	n/a	n/a
27	POLR2A	chr2:172289567-172291697	K562	blood:	n/a	n/a

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:172289860..172292485-chr2:175259037..175261189,2	MCF-7	breast:
2	chr2:171784160..171787954-chr2:172288133..172292253,10	K562	blood:
3	chr2:172289123..172292836-chr2:172306272..172310763,6	K562	blood:
4	chr2:172288399..172297381-chr2:172370978..172381493,22	K562	blood:
5	chr2:172015340..172019166-chr2:172288878..172291883,5	K562	blood:
6	chr2:172288832..172292910-chr2:172322388..172326341,4	K562	blood:
7	chr2:172289876..172292562-chr2:172333814..172336703,3	K562	blood:
8	chr2:172291105..172291889-chr20:524221..524858,2	NB4	blood:
9	chr2:172014091..172018646-chr2:172288530..172293107,15	MCF-7	breast:
10	chr2:172013226..172020125-chr2:172287594..172292844,18	MCF-7	breast:
11	chr2:172289978..172291717-chr2:172966936..172969521,2	K562	blood:
12	chr2:171894172..171896677-chr2:172291398..172293254,2	MCF-7	breast:
13	chr2:172287317..172289847-chr2:172289909..172292066,2	MCF-7	breast:
14	chr2:172013756..172019540-chr2:172285624..172293532,16	K562	blood:
15	chr2:171784119..171787322-chr2:172288781..172292051,4	MCF-7	breast:
16	chr2:172287467..172293160-chr2:172293206..172300397,21	K562	blood:
17	chr2:172288511..172290810-chr2:172291343..172292925,2	K562	blood:
18	chr2:171783791..171787349-chr2:172286549..172291928,9	K562	blood:
19	chr2:172288399..172293582-chr2:172376630..172381034,10	K562	blood:
20	chr2:172289880..172292267-chr2:172966936..172969958,3	K562	blood:
21	chr2:172287753..172291848-chr2:172543733..172546489,4	K562	blood:

No data

Variant related genes	Relation type
METTL8	TF binding region
ENSG00000123600	Chromatin interaction
ENSG00000198586	Chromatin interaction
ENSG00000144306	Chromatin interaction
ENSG00000236651	Chromatin interaction
ENSG00000115806	Chromatin interaction
ENSG00000101266	Chromatin interaction
ENSG00000071967	Chromatin interaction
ENSG00000233762	Chromatin interaction
ENSG00000115827	Chromatin interaction
ENSG00000115844	Chromatin interaction
ENSG00000138433	Chromatin interaction
ENSG00000077380	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10490604	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10515933	0.85[CHD][hapmap];0.90[GIH][hapmap];0.80[JPT][hapmap];0.85[TSI][hapmap]
rs10930476	0.84[ASN][1000 genomes]
rs13384194	0.88[ASN][1000 genomes]
rs1476111	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17220419	0.89[CHD][hapmap];0.87[GIH][hapmap];0.80[JPT][hapmap];0.85[TSI][hapmap]
rs17220657	0.80[JPT][hapmap]
rs17220734	0.85[CHD][hapmap];0.90[GIH][hapmap];0.80[JPT][hapmap];0.85[TSI][hapmap]
rs17221346	1.00[CEU][hapmap];0.88[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17286415	0.85[CHD][hapmap];0.90[GIH][hapmap];0.80[JPT][hapmap];0.85[TSI][hapmap]
rs28420126	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28742013	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3731982	0.89[CHD][hapmap];0.90[GIH][hapmap];0.80[JPT][hapmap];0.85[TSI][hapmap]
rs3731983	0.85[CHD][hapmap];0.90[GIH][hapmap];0.80[JPT][hapmap];0.85[TSI][hapmap]
rs3795998	0.85[CHD][hapmap];0.90[GIH][hapmap];0.85[TSI][hapmap]
rs3821084	0.85[CHD][hapmap];0.90[GIH][hapmap];0.85[TSI][hapmap]
rs4458186	0.90[GIH][hapmap];0.81[TSI][hapmap]
rs4522571	0.89[CHD][hapmap];0.90[GIH][hapmap];0.80[JPT][hapmap];0.85[TSI][hapmap]
rs4667689	0.82[ASN][1000 genomes]
rs4668387	0.85[CHD][hapmap];0.90[GIH][hapmap];0.85[TSI][hapmap]
rs55999882	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58182652	0.89[ASN][1000 genomes]
rs58267868	0.89[ASN][1000 genomes]
rs62183464	0.80[EUR][1000 genomes]
rs62183492	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62183504	0.95[ASN][1000 genomes]
rs62183537	0.89[ASN][1000 genomes]
rs62183540	0.88[ASN][1000 genomes]
rs6433290	0.80[JPT][hapmap]
rs6433291	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6433292	0.89[JPT][hapmap];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6713612	0.84[JPT][hapmap];0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6718740	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6741806	0.80[JPT][hapmap]
rs6743290	0.80[ASN][1000 genomes]
rs7594714	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7598137	0.87[GIH][hapmap]
rs7600478	0.87[ASN][1000 genomes]
rs9789380	0.90[ASN][1000 genomes]
rs9789572	0.85[CHD][hapmap];0.90[GIH][hapmap];0.85[TSI][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	esv3382346	chr2:172062677-172363892	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	esv3349868	chr2:172276494-172302401	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
3	esv1832950	chr2:172283513-172488111	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 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	chr2:172289000-172292400	Active TSS	GM12878-XiMat	blood
2	chr2:172289200-172291800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr2:172289200-172292000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:172289200-172292000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:172289200-172292000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr2:172289200-172292400	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr2:172289400-172291800	Active TSS	Colonic Mucosa	Colon
8	chr2:172289400-172292400	Active TSS	Fetal Brain Female	brain
9	chr2:172289400-172292400	Active TSS	A549	lung
10	chr2:172289600-172291800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr2:172289800-172291800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
12	chr2:172289800-172291800	Active TSS	H9 Cell Line	embryonic stem cell
13	chr2:172289800-172291800	Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr2:172289800-172291800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr2:172289800-172291800	Active TSS	Psoas Muscle	Psoas
16	chr2:172289800-172291800	Active TSS	Hela-S3	cervix
17	chr2:172289800-172292000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr2:172289800-172292000	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr2:172289800-172292000	Active TSS	NHEK	skin
20	chr2:172289800-172292000	Active TSS	NHLF	lung
21	chr2:172289800-172292200	Active TSS	H1 Cell Line	embryonic stem cell
22	chr2:172289800-172292200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr2:172289800-172292400	Active TSS	HMEC	breast
24	chr2:172290000-172291800	Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr2:172290000-172291800	Active TSS	Brain Inferior Temporal Lobe	brain
26	chr2:172290000-172291800	Active TSS	Fetal Stomach	stomach
27	chr2:172290000-172291800	Active TSS	K562	blood
28	chr2:172290000-172291800	Active TSS	NHDF-Ad	bronchial
29	chr2:172290000-172292000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr2:172290000-172292000	Active TSS	Muscle Satellite Cultured Cells	--
31	chr2:172290000-172292000	Active TSS	Fetal Intestine Large	intestine
32	chr2:172290000-172292000	Active TSS	Thymus	Thymus
33	chr2:172290000-172292200	Active TSS	iPS-18 Cell Line	embryonic stem cell
34	chr2:172290000-172292200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr2:172290000-172292400	Active TSS	HUES6 Cell Line	embryonic stem cell
36	chr2:172290200-172291800	Active TSS	Fetal Muscle Leg	muscle
37	chr2:172290200-172292000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr2:172290200-172292000	Active TSS	Fetal Thymus	thymus
39	chr2:172290400-172291800	Active TSS	Stomach Smooth Muscle	stomach
40	chr2:172290400-172291800	Active TSS	Osteobl	bone
41	chr2:172290600-172291800	Active TSS	Brain Germinal Matrix	brain
42	chr2:172291000-172291800	Flanking Active TSS	Primary B cells from cord blood	blood
43	chr2:172291000-172291800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
44	chr2:172291000-172319800	Weak transcription	Stomach Mucosa	stomach
45	chr2:172291200-172291800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
46	chr2:172291200-172291800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
47	chr2:172291200-172291800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
48	chr2:172291200-172291800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr2:172291200-172291800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr2:172291200-172291800	Flanking Active TSS	Liver	Liver

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