Variant report

Variant	rs2980856
Chromosome Location	chr8:126476379-126476380
allele	C/G
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	POLR2A	chr8:126475772-126476675	HCT-116	colon:	n/a	n/a
2	POLR2A	chr8:126475152-126476546	Hela-S3	cervix:	n/a	n/a
3	MYC	chr8:126476348-126476719	MCF10A-Er-Src	breast:	n/a	chr8:126476539-126476550
4	CEBPB	chr8:126476327-126476633	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr8:126476226-126476556	Hela-S3	cervix:	n/a	n/a
6	MAZ	chr8:126476123-126476596	Hela-S3	cervix:	n/a	chr8:126476539-126476550
7	TFAP2A	chr8:126476112-126476726	Hela-S3	cervix:	n/a	chr8:126476451-126476465 chr8:126476453-126476465 chr8:126476451-126476466
8	FOXA1	chr8:126476327-126476592	T-47D	breast:	n/a	n/a
9	ZNF143	chr8:126476023-126476561	Hela-S3	cervix:	n/a	n/a
10	TCF7L2	chr8:126475942-126476643	Hela-S3	cervix:	n/a	n/a
11	BRCA1	chr8:126476110-126476606	Hela-S3	cervix:	n/a	n/a
12	TFAP2C	chr8:126476070-126476734	Hela-S3	cervix:	n/a	n/a
13	FOS	chr8:126476347-126476528	MCF10A-Er-Src	breast:	n/a	n/a
14	MAX	chr8:126476285-126476668	Hela-S3	cervix:	n/a	chr8:126476539-126476550
15	MAX	chr8:126476364-126476627	Hela-S3	cervix:	n/a	chr8:126476539-126476550
16	RFX5	chr8:126475932-126476582	Hela-S3	cervix:	n/a	n/a
17	MYC	chr8:126476103-126476690	Hela-S3	cervix:	n/a	chr8:126476539-126476550
18	GATA3	chr8:126476256-126476577	T-47D	breast:	n/a	chr8:126476259-126476269
19	RCOR1	chr8:126476087-126476639	Hela-S3	cervix:	n/a	n/a
20	SMC3	chr8:126476286-126476629	Hela-S3	cervix:	n/a	n/a
21	MXI1	chr8:126476138-126476646	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:126476379..126479143-chr8:126667265..126669380,2	MCF-7	breast:
2	chr8:126442745..126445381-chr8:126476232..126477978,2	MCF-7	breast:
3	chr8:126464119..126465895-chr8:126475032..126477727,2	MCF-7	breast:
4	chr8:126472290..126473943-chr8:126475663..126477931,2	MCF-7	breast:
5	chr8:126459529..126461149-chr8:126475843..126477879,2	K562	blood:

Variant related genes	Relation type
ENSG00000253111	TF binding region
ENSG00000173334	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10808546	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17321515	1.00[CEU][hapmap];0.86[MEX][hapmap];0.93[TSI][hapmap];0.96[EUR][1000 genomes]
rs2001844	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2001945	0.85[CEU][hapmap];0.83[MEX][hapmap];0.89[TSI][hapmap]
rs2954019	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2954021	0.85[CEU][hapmap];0.81[EUR][1000 genomes]
rs2954022	0.96[CEU][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2954029	0.96[CEU][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2954031	0.92[CEU][hapmap];0.84[EUR][1000 genomes]
rs2980853	1.00[CEU][hapmap];0.91[MEX][hapmap];0.98[TSI][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2980854	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2980855	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2980860	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2980868	0.96[EUR][1000 genomes]
rs2980869	1.00[CEU][hapmap];0.86[MEX][hapmap];0.93[TSI][hapmap];0.96[EUR][1000 genomes]
rs2980871	0.96[CEU][hapmap];0.93[JPT][hapmap];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2980875	0.96[CEU][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2980882	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2980886	0.95[EUR][1000 genomes]
rs6982636	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6999569	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891437	chr8:126470817-126629328	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2980856	HAS2	cis	cerebellum	SCAN

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126464800-126478000	Weak transcription	Gastric	stomach
2	chr8:126465200-126477800	Weak transcription	Fetal Heart	heart
3	chr8:126472400-126479000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:126475000-126476600	Enhancers	Fetal Lung	lung
5	chr8:126475400-126477600	Weak transcription	Fetal Muscle Leg	muscle
6	chr8:126475400-126479200	Weak transcription	A549	lung
7	chr8:126475600-126477000	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr8:126475600-126477400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr8:126475600-126477800	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr8:126475600-126478000	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr8:126475600-126478200	Weak transcription	HepG2	liver
12	chr8:126475600-126478800	Weak transcription	K562	blood
13	chr8:126475800-126479600	Enhancers	Placenta	Placenta
14	chr8:126476000-126476600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr8:126476000-126476600	Enhancers	Esophagus	oesophagus
16	chr8:126476000-126476600	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr8:126476000-126476600	Flanking Active TSS	Hela-S3	cervix
18	chr8:126476000-126476800	Enhancers	HSMM	muscle
19	chr8:126476000-126476800	Enhancers	HSMMtube	muscle
20	chr8:126476000-126476800	Enhancers	NHEK	skin
21	chr8:126476200-126476400	Enhancers	Duodenum Mucosa	Duodenum
22	chr8:126476200-126476400	Enhancers	Right Ventricle	heart
23	chr8:126476200-126476600	Enhancers	Liver	Liver
24	chr8:126476200-126476800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr8:126476200-126476800	Enhancers	Skeletal Muscle Male	skeletal muscle

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