Variant report

Variant	rs60170976
Chromosome Location	chr6:33214713-33214714
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:33214502-33215159	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr6:33214528-33214820	HepG2	liver:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:33214712-33214762	Caco-2	colon:	n/a
2	chr6:33214712-33214762	AoSMC	blood vessel:	n/a
3	chr6:33214712-33214762	SK-N-MC	brain:	n/a
4	chr6:33214712-33214762	IMR90	lung:	fetal
5	chr6:33214712-33214762	MCF-7	breast:	n/a
6	chr6:33214712-33214762	HAEpiC	amniotic membrane:	n/a
7	chr6:33214712-33214762	HCM	heart:	n/a
8	chr6:33214712-33214762	H1-hESC	embryonic stem cell:	embryo
9	chr6:33214712-33214762	AG09319	gingival:	n/a
10	chr6:33214712-33214762	HL-60	blood:	n/a
11	chr6:33214712-33214762	AG04450	lung:	fetal
12	chr6:33214712-33214762	RPTEC	kidney:	n/a
13	chr6:33214712-33214762	Jurkat	blood:	n/a
14	chr6:33214712-33214762	ovcar-3	ovarian:	n/a
15	chr6:33214712-33214762	GM06990	blood:	n/a
16	chr6:33214712-33214762	HRE	kidney:	n/a
17	chr6:33214712-33214762	GM12891	blood:	n/a
18	chr6:33214712-33214762	AG04449	skin:	fetal
19	chr6:33214712-33214762	AG09309	skin:	n/a
20	chr6:33214712-33214762	PFSK-1	brain:	n/a
21	chr6:33214712-33214762	HIPEpiC	eye:	n/a
22	chr6:33214712-33214762	HMEC	breast:	n/a
23	chr6:33214712-33214762	HEEpiC	esophagus:	n/a
24	chr6:33214712-33214762	GM19239	blood:	n/a
25	chr6:33214712-33214762	K562	blood:	n/a
26	chr6:33214712-33214762	Hepatocyte	liver:	n/a
27	chr6:33214712-33214762	HNPCEpiC	eye:	n/a
28	chr6:33214712-33214762	PrEC	prostate:	n/a
29	chr6:33214712-33214762	ProgFib	skin:	n/a
30	chr6:33214712-33214762	NB4	blood:	n/a
31	chr6:33214712-33214762	GM12878	blood:	n/a
32	chr6:33214712-33214762	NHDF-neo	bronchial:	n/a
33	chr6:33214712-33214762	NH-A	brain:	n/a
34	chr6:33214712-33214762	Hela-S3	cervix:	n/a
35	chr6:33214712-33214762	HCT-116	colon:	n/a
36	chr6:33214712-33214762	PANC-1	pancreas:	n/a
37	chr6:33214712-33214762	HPAEpiC	pulmonary alveolar:	n/a
38	chr6:33214712-33214762	BJ	skin:	n/a
39	chr6:33214712-33214762	NHBE	bronchial:	n/a
40	chr6:33214712-33214762	HCF	heart:	n/a
41	chr6:33214712-33214762	U87	brain:	n/a
42	chr6:33214712-33214762	HEK293	kidney:	embryo
43	chr6:33214712-33214762	SK-N-SH_RA	brain:	n/a
44	chr6:33214712-33214762	T-47D	breast:	n/a
45	chr6:33214712-33214762	ECC-1	luminal epithelium:	n/a
46	chr6:33214712-33214762	HRPEpiC	eye:	n/a
47	chr6:33214712-33214762	MCF10A-Er-Src	breast:	n/a
48	chr6:33214712-33214762	LNCaP	prostate:	n/a
49	chr6:33214712-33214762	SAEC	small airway:	n/a
50	chr6:33214712-33214762	A549	lung:	n/a

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:33172848..33181857-chr6:33213902..33220839,20	K562	blood:
2	chr6:33165570..33177648-chr6:33213944..33219124,23	MCF-7	breast:
3	chr6:33170516..33184004-chr6:33208467..33219908,34	K562	blood:
4	chr6:33089176..33090919-chr6:33214635..33216871,2	K562	blood:
5	chr6:32934886..32941336-chr6:33214658..33220920,14	K562	blood:
6	chr6:33181073..33183564-chr6:33213060..33215558,3	MCF-7	breast:

No data

Variant related genes	Relation type
HCG25	TF binding region
ENSG00000272217	TF binding region
ENSG00000272217	CpG island
HCG25	CpG island
ENSG00000199036	Chromatin interaction
ENSG00000204256	Chromatin interaction
ENSG00000202441	Chromatin interaction
ENSG00000204231	Chromatin interaction
ENSG00000223837	Chromatin interaction
ENSG00000225463	Chromatin interaction
ENSG00000112473	Chromatin interaction
ENSG00000204228	Chromatin interaction
ENSG00000204227	Chromatin interaction
ENSG00000204257	Chromatin interaction
ENSG00000263756	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs3173275	0.94[AFR][1000 genomes]
rs56999860	0.80[AFR][1000 genomes]
rs57582515	0.95[AFR][1000 genomes]
rs58283032	0.81[AFR][1000 genomes]
rs58759132	0.95[AFR][1000 genomes]
rs58883992	1.00[AFR][1000 genomes]
rs59097151	0.96[AFR][1000 genomes]
rs59142568	0.81[AFR][1000 genomes]
rs59368071	0.81[AFR][1000 genomes]
rs59531270	0.95[AFR][1000 genomes]
rs60813085	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6906693	0.81[AFR][1000 genomes]
rs6908509	0.81[AFR][1000 genomes]
rs6920095	0.81[AFR][1000 genomes]
rs6931141	0.94[AFR][1000 genomes]
rs73408048	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73408053	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73408061	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73408065	0.99[AFR][1000 genomes]
rs73408067	0.99[AFR][1000 genomes]
rs73410003	0.98[AFR][1000 genomes]
rs73410010	0.98[AFR][1000 genomes]
rs73410043	0.91[AFR][1000 genomes]
rs73410049	0.89[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv462893	chr6:33142539-33256471	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv602830	chr6:33142539-33256471	Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
3	nsv830634	chr6:33161217-33330745	Flanking Active TSS Genic enhancers Active TSS Strong transcription Weak transcription Enhancers 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 miRNA miRNA target site	139 gene(s)	inside rSNPs	diseases
4	nsv462894	chr6:33174783-33254665	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	87 gene(s)	inside rSNPs	diseases
5	nsv602831	chr6:33174783-33254665	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	87 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33208200-33216000	Weak transcription	Right Atrium	heart
2	chr6:33210000-33215800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr6:33214600-33214800	Enhancers	HMEC	breast
4	chr6:33214600-33215400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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