Variant report

Variant	rs7188789
Chromosome Location	chr16:30640185-30640186
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:220)
CpG islands
(count:0)
Chromatin interactive
region (count:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:220 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr16:30640107-30640397	K562	blood:	n/a	n/a
2	CTCF	chr16:30640180-30640330	BE2_C	brain:	n/a	n/a
3	SMC3	chr16:30640034-30640457	GM12878	blood:	n/a	n/a
4	NR2F2	chr16:30639890-30640521	K562	blood:	n/a	n/a
5	RXRA	chr16:30639966-30640434	H1-hESC	embryonic stem cell:	n/a	n/a
6	RAD21	chr16:30640017-30640541	HepG2	liver:	n/a	chr16:30640435-30640444
7	MAX	chr16:30640120-30640391	GM12878	blood:	n/a	n/a
8	CTCF	chr16:30640135-30640385	A549	lung:	n/a	n/a
9	BHLHE40	chr16:30640108-30640421	K562	blood:	n/a	n/a
10	CTCF	chr16:30640159-30640366	MCF-7	breast:	n/a	n/a
11	ELF1	chr16:30640023-30640436	A549	lung:	n/a	chr16:30640171-30640184
12	CTCF	chr16:30640180-30640330	HBMEC	blood vessel:	n/a	n/a
13	CTCF	chr16:30640131-30640387	GM12892	blood:	n/a	n/a
14	CTCF	chr16:30640053-30640557	HCT-116	colon:	n/a	n/a
15	SMC3	chr16:30640049-30640459	Hela-S3	cervix:	n/a	n/a
16	CTCF	chr16:30640142-30640385	HepG2	liver:	n/a	n/a
17	GTF2B	chr16:30640174-30640557	K562	blood:	n/a	n/a
18	RAD21	chr16:30640037-30640462	IMR90	lung:	n/a	chr16:30640435-30640444
19	CTCF	chr16:30640138-30640383	LNCaP	prostate:	n/a	n/a
20	FOS	chr16:30640125-30640388	MCF10A-Er-Src	breast:	n/a	n/a
21	ATF1	chr16:30640099-30640425	K562	blood:	n/a	n/a
22	RAD21	chr16:30639967-30640542	ECC-1	luminal epithelium:	n/a	chr16:30640435-30640444
23	ZNF143	chr16:30640102-30640399	K562	blood:	n/a	n/a
24	CTCF	chr16:30640180-30640330	HCPEpiC	choroid plexus:	n/a	n/a
25	CTCF	chr16:30640180-30640330	HRPEpiC	eye:	n/a	n/a
26	TCF7L2	chr16:30640073-30640435	MCF-7	breast:	n/a	chr16:30640237-30640251
27	ZNF143	chr16:30640127-30640407	H1-hESC	embryonic stem cell:	n/a	n/a
28	RAD21	chr16:30640011-30640446	H1-hESC	embryonic stem cell:	n/a	chr16:30640435-30640444
29	CTCF	chr16:30640180-30640330	MCF-7	breast:	n/a	n/a
30	CTCF	chr16:30640140-30640290	HFF-Myc	foreskin:	n/a	n/a
31	SMC3	chr16:30640053-30640465	HepG2	liver:	n/a	n/a
32	EBF1	chr16:30640178-30640397	GM12878	blood:	n/a	n/a
33	FOXA1	chr16:30640104-30640342	T-47D	breast:	n/a	n/a
34	JUND	chr16:30640079-30640391	K562	blood:	n/a	n/a
35	CTCF	chr16:30640180-30640330	HMEC	breast:	n/a	n/a
36	CTCF	chr16:30639913-30640665	SK-N-SH	brain:	n/a	n/a
37	MYC	chr16:30640156-30640394	K562	blood:	n/a	n/a
38	MAZ	chr16:30640124-30640353	GM12878	blood:	n/a	n/a
39	CTCF	chr16:30640160-30640310	HL-60	blood:	n/a	n/a
40	CTCF	chr16:30640180-30640330	AG04450	lung:	n/a	n/a
41	RFX5	chr16:30640080-30640438	Hela-S3	cervix:	n/a	n/a
42	CTCF	chr16:30640140-30640393	Kidney_OC	kidney:	n/a	n/a
43	CTCF	chr16:30640180-30640330	GM12867	blood:	n/a	n/a
44	CTCF	chr16:30640083-30640391	Lung_OC	lung:	n/a	n/a
45	RAD21	chr16:30640055-30640497	GM12878	blood:	n/a	chr16:30640435-30640444
46	CTCF	chr16:30640180-30640330	NHDF-neo	bronchial:	n/a	n/a
47	RAD21	chr16:30639970-30640604	HCT-116	colon:	n/a	chr16:30640435-30640444
48	TCF7L2	chr16:30640077-30640556	HEK293	kidney:	n/a	chr16:30640237-30640251
49	TCF12	chr16:30639976-30640503	A549	lung:	n/a	n/a
50	RAD21	chr16:30640039-30640414	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr16:30617317..30620136-chr16:30639446..30642000,2	K562	blood:
2	chr16:30535774..30538341-chr16:30638616..30641301,3	MCF-7	breast:
3	chr16:30639009..30641962-chr16:30644620..30646873,2	MCF-7	breast:
4	chr16:30370896..30371772-chr16:30640037..30640734,2	MCF-7	breast:
5	chr16:30441082..30442394-chr16:30639571..30640733,5	K562	blood:
6	chr16:30595303..30597100-chr16:30638655..30641608,2	MCF-7	breast:
7	chr16:30429607..30431783-chr16:30638612..30641034,2	MCF-7	breast:
8	chr16:30441187..30442115-chr16:30639784..30640702,8	MCF-7	breast:
9	chr16:30454893..30456842-chr16:30638548..30640357,2	K562	blood:
10	chr16:30640142..30641957-chr16:30643713..30645899,3	K562	blood:
11	chr16:30631964..30634523-chr16:30638900..30640577,2	MCF-7	breast:
12	chr16:30420686..30421384-chr16:30639848..30640409,3	K562	blood:
13	chr16:30638840..30641606-chr16:30661205..30662742,2	MCF-7	breast:
14	chr16:30439565..30443046-chr16:30640159..30642380,3	MCF-7	breast:
15	chr16:30441457..30442175-chr16:30639765..30640742,5	MCF-7	breast:
16	chr16:30609239..30609773-chr16:30640020..30640552,2	K562	blood:
17	chr16:30461088..30461625-chr16:30639966..30640472,2	K562	blood:
18	chr16:30621055..30622609-chr16:30640051..30642203,2	MCF-7	breast:
19	chr16:30555913..30558805-chr16:30639399..30642318,2	K562	blood:
20	chr16:30609228..30610120-chr16:30639831..30640577,2	MCF-7	breast:

No data

Variant related genes	Relation type
ZNF689	TF binding region
ENSG00000261680	TF binding region
ENSG00000156858	Chromatin interaction
ENSG00000197162	Chromatin interaction
ENSG00000156853	Chromatin interaction
ENSG00000169957	Chromatin interaction
ENSG00000199787	Chromatin interaction
ENSG00000179958	Chromatin interaction
ENSG00000169221	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs12918327	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1348039	0.82[YRI][hapmap]
rs1470129	0.83[YRI][hapmap]
rs1530201	0.82[YRI][hapmap]
rs28728333	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28841118	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2919428	0.91[YRI][hapmap]
rs34699226	0.80[ASN][1000 genomes]
rs35661204	0.82[ASN][1000 genomes]
rs36063822	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs36064568	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4485386	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4889502	0.82[YRI][hapmap]
rs4889506	0.82[YRI][hapmap]
rs55875685	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6565195	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6565196	0.85[EUR][1000 genomes]
rs67693285	0.89[ASN][1000 genomes]
rs7184055	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7185620	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7186852	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7187071	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7187802	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7188927	0.82[YRI][hapmap]
rs7191389	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7191761	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7194347	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7197475	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7204632	0.96[CEU][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7499339	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs893924	0.82[YRI][hapmap]
rs893925	0.82[YRI][hapmap]
rs9925025	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9927137	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062456	chr16:30442166-31253997	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
2	nsv542898	chr16:30442166-31253997	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
3	nsv905727	chr16:30564526-30689696	Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
4	nsv469724	chr16:30632445-30840263	Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
5	nsv482704	chr16:30632445-30840263	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
6	nsv833188	chr16:30632446-30840263	Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS 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	143 gene(s)	inside rSNPs	diseases
7	nsv978132	chr16:30635969-30640484	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30638200-30642000	Enhancers	HepG2	liver
2	chr16:30638200-30645000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr16:30639400-30640600	Enhancers	Dnd41	blood
4	chr16:30639600-30640200	Active TSS	Colonic Mucosa	Colon
5	chr16:30639600-30640200	Active TSS	Placenta	Placenta
6	chr16:30639800-30640200	Enhancers	Fetal Muscle Leg	muscle
7	chr16:30639800-30640400	Enhancers	Primary T cells fromperipheralblood	blood
8	chr16:30639800-30641000	Enhancers	Fetal Thymus	thymus
9	chr16:30640000-30640200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr16:30640000-30640200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr16:30640000-30640200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr16:30640000-30640200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr16:30640000-30640200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr16:30640000-30640200	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr16:30640000-30640200	Enhancers	Primary hematopoietic stem cells	blood
16	chr16:30640000-30640200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr16:30640000-30640200	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr16:30640000-30640200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
19	chr16:30640000-30640200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr16:30640000-30640200	Enhancers	Muscle Satellite Cultured Cells	--
21	chr16:30640000-30640200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr16:30640000-30640200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr16:30640000-30640200	Enhancers	Adipose Nuclei	Adipose
24	chr16:30640000-30640200	Enhancers	Colon Smooth Muscle	Colon
25	chr16:30640000-30640200	Flanking Active TSS	Duodenum Mucosa	Duodenum
26	chr16:30640000-30640200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr16:30640000-30640200	Enhancers	Fetal Intestine Large	intestine
28	chr16:30640000-30640200	Enhancers	Fetal Intestine Small	intestine
29	chr16:30640000-30640200	Enhancers	Fetal Lung	lung
30	chr16:30640000-30640200	Flanking Active TSS	Fetal Muscle Trunk	muscle
31	chr16:30640000-30640200	Enhancers	Fetal Stomach	stomach
32	chr16:30640000-30640200	Enhancers	Rectal Mucosa Donor 29	rectum
33	chr16:30640000-30640200	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr16:30640000-30640200	Enhancers	Right Atrium	heart
35	chr16:30640000-30640200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
36	chr16:30640000-30640200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
37	chr16:30640000-30640200	Flanking Active TSS	Stomach Smooth Muscle	stomach
38	chr16:30640000-30640200	Enhancers	Thymus	Thymus
39	chr16:30640000-30640200	Flanking Active TSS	HUVEC	blood vessel
40	chr16:30640000-30640200	Flanking Active TSS	K562	blood
41	chr16:30640000-30640200	Enhancers	Monocytes-CD14+_RO01746	blood
42	chr16:30640000-30640200	Enhancers	NHDF-Ad	bronchial
43	chr16:30640000-30640200	Enhancers	NHLF	lung
44	chr16:30640000-30640400	Enhancers	Primary monocytes fromperipheralblood	blood
45	chr16:30640000-30640400	Flanking Active TSS	Primary T cells from cord blood	blood
46	chr16:30640000-30640400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr16:30640000-30640400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
48	chr16:30640000-30640400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
49	chr16:30640000-30640400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr16:30640000-30640400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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