Variant report

Variant	rs7190839
Chromosome Location	chr16:82065262-82065263
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:173)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:173 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr16:82065120-82065270	HVMF	connective:	n/a	n/a
2	CTCF	chr16:82065120-82065270	GM06990	blood:	n/a	n/a
3	CTCF	chr16:82065140-82065290	GM12801	blood:	n/a	n/a
4	CTCF	chr16:82065120-82065270	WI-38	lung:	n/a	n/a
5	RAD21	chr16:82065117-82065301	GM12878	blood:	n/a	n/a
6	CTCF	chr16:82065160-82065310	Hela-S3	cervix:	n/a	n/a
7	RAD21	chr16:82064903-82065503	SK-N-SH	brain:	n/a	n/a
8	CTCF	chr16:82065140-82065290	GM12872	blood:	n/a	n/a
9	CTCF	chr16:82065140-82065290	HCPEpiC	choroid plexus:	n/a	n/a
10	CTCF	chr16:82065160-82065310	HBMEC	blood vessel:	n/a	n/a
11	SMC3	chr16:82065052-82065382	Hela-S3	cervix:	n/a	n/a
12	ATF1	chr16:82065155-82065355	K562	blood:	n/a	n/a
13	CTCF	chr16:82065180-82065330	GM12865	blood:	n/a	n/a
14	CTCF	chr16:82065140-82065290	HRE	kidney:	n/a	n/a
15	CTCF	chr16:82065143-82065263	GM10248	blood:	n/a	n/a
16	CTCF	chr16:82065102-82065351	K562	blood:	n/a	n/a
17	CTCF	chr16:82065160-82065310	SAEC	small airway:	n/a	n/a
18	CTCF	chr16:82065160-82065310	GM12870	blood:	n/a	n/a
19	CTCF	chr16:82064689-82065818	A549	lung:	n/a	chr16:82065448-82065461
20	SPI1	chr16:82065057-82065340	K562	blood:	n/a	n/a
21	FOS	chr16:82065205-82065619	MCF10A-Er-Src	breast:	n/a	chr16:82065380-82065389
22	CTCF	chr16:82065180-82065330	AG09309	skin:	n/a	n/a
23	CTCF	chr16:82065140-82065290	HFF	foreskin:	n/a	n/a
24	CTCF	chr16:82064952-82065431	MCF-7	breast:	n/a	n/a
25	CTCF	chr16:82065160-82065310	HCM	heart:	n/a	n/a
26	CTCF	chr16:82065160-82065310	SK-N-SH_RA	brain:	n/a	n/a
27	ZNF143	chr16:82065096-82065354	GM12878	blood:	n/a	n/a
28	CTCF	chr16:82065220-82065370	HAc	cerebellar:	n/a	n/a
29	RAD21	chr16:82064878-82065565	MCF-7	breast:	n/a	n/a
30	CTCF	chr16:82065094-82065335	Gliobla	brain:	n/a	n/a
31	SMC3	chr16:82065044-82065649	SK-N-SH	brain:	n/a	n/a
32	CTCF	chr16:82065140-82065290	AG10803	skin:	n/a	n/a
33	MYC	chr16:82065048-82065494	MCF10A-Er-Src	breast:	n/a	n/a
34	CTCF	chr16:82065140-82065290	AoAF	blood vessel:	n/a	n/a
35	SPI1	chr16:82065047-82065295	GM12891	blood:	n/a	n/a
36	CTCF	chr16:82065102-82065296	GM13977	blood:	n/a	n/a
37	SPI1	chr16:82065049-82065305	GM12891	blood:	n/a	n/a
38	CTCF	chr16:82065160-82065310	HUVEC	blood vessel:	n/a	n/a
39	CTCF	chr16:82065022-82065420	GM12878	blood:	n/a	n/a
40	FOS	chr16:82065050-82065625	MCF10A-Er-Src	breast:	n/a	chr16:82065380-82065389
41	RAD21	chr16:82065038-82065418	Hela-S3	cervix:	n/a	n/a
42	CTCF	chr16:82065039-82065364	A549	lung:	n/a	n/a
43	CTCF	chr16:82065092-82065310	NHEK	skin:	n/a	n/a
44	RAD21	chr16:82064922-82065545	A549	lung:	n/a	n/a
45	CTCF	chr16:82065160-82065310	HMF	breast:	n/a	n/a
46	SMC3	chr16:82065075-82065376	GM12878	blood:	n/a	n/a
47	CTCF	chr16:82065120-82065270	HAc	cerebellar:	n/a	n/a
48	CTCF	chr16:82065120-82065270	HEEpiC	esophagus:	n/a	n/a
49	CTCF	chr16:82065120-82065270	HepG2	liver:	n/a	n/a
50	CTCF	chr16:82065160-82065310	GM12873	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:82064842..82065598-chr16:82095362..82096218,4	MCF-7	breast:
2	chr16:82064756..82065405-chr16:82263533..82264299,2	K562	blood:
3	chr16:82064738..82065659-chr16:82263372..82264240,11	MCF-7	breast:
4	chr16:81974148..81975083-chr16:82064743..82066000,4	MCF-7	breast:
5	chr16:82065223..82067133-chr16:82262887..82264649,2	MCF-7	breast:
6	chr16:82064816..82065363-chr16:82261080..82262041,2	MCF-7	breast:
7	chr16:82064722..82065718-chr16:82262987..82264266,17	MCF-7	breast:

No data

Variant related genes	Relation type
HSD17B2	TF binding region

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11865006	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs13333646	0.82[ASN][1000 genomes]
rs13333826	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs16956236	0.82[ASN][1000 genomes]
rs16956242	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs16956248	1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2317419	0.88[ASN][1000 genomes]
rs28448330	0.82[ASN][1000 genomes]
rs2955159	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs3111351	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs34132140	0.94[ASN][1000 genomes]
rs4262939	0.82[ASN][1000 genomes]
rs4628962	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs59151852	0.94[ASN][1000 genomes]
rs60200374	0.82[ASN][1000 genomes]
rs61537150	0.94[ASN][1000 genomes]
rs7188332	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs7196087	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7198264	0.82[ASN][1000 genomes]
rs7200696	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7200711	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7202378	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs73603078	0.94[ASN][1000 genomes]
rs8046220	0.94[ASN][1000 genomes]
rs8046900	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs8048305	0.82[ASN][1000 genomes]
rs8064052	0.82[ASN][1000 genomes]
rs8191112	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs8191135	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs8191155	1.00[JPT][hapmap]
rs8191158	1.00[JPT][hapmap]
rs8191159	1.00[JPT][hapmap]
rs8191198	1.00[JPT][hapmap];0.88[ASN][1000 genomes]

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	nsv907012	chr16:81986896-82115148	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1058368	chr16:82029516-82152788	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv532598	chr16:82034475-82738733	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82058000-82065600	Weak transcription	Gastric	stomach
2	chr16:82061000-82066600	Weak transcription	Pancreas	Pancrea
3	chr16:82061000-82066800	Weak transcription	Esophagus	oesophagus
4	chr16:82062000-82065400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr16:82062000-82066400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr16:82062000-82066400	Weak transcription	Fetal Intestine Small	intestine
7	chr16:82062000-82066600	Weak transcription	Stomach Mucosa	stomach
8	chr16:82062200-82066400	Weak transcription	Fetal Intestine Large	intestine
9	chr16:82064000-82065400	Weak transcription	Duodenum Mucosa	Duodenum
10	chr16:82064800-82065800	Enhancers	Muscle Satellite Cultured Cells	--
11	chr16:82064800-82065800	Enhancers	NH-A	brain
12	chr16:82064800-82066000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr16:82064800-82066000	Enhancers	HUVEC	blood vessel
14	chr16:82064800-82066000	Enhancers	NHDF-Ad	bronchial
15	chr16:82064800-82066200	Enhancers	HepG2	liver
16	chr16:82064800-82069400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr16:82065000-82068200	Enhancers	NHEK	skin
18	chr16:82065000-82069400	Enhancers	HMEC	breast
19	chr16:82065200-82065400	Weak transcription	Small Intestine	intestine
20	chr16:82065200-82068000	Enhancers	Liver	Liver

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