Variant report

Variant	rs12525463
Chromosome Location	chr6:31621784-31621785
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:21)
CpG islands
(count:122)
Chromatin interactive
region (count:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:31619202-31621792	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr6:31619327-31621832	K562	blood:	n/a	n/a
3	CEBPB	chr6:31619609-31621828	K562	blood:	n/a	chr6:31621514-31621525
4	POLR2A	chr6:31619393-31621867	PFSK-1	brain:	n/a	n/a
5	NR2F2	chr6:31619207-31622620	K562	blood:	n/a	n/a
6	POLR2A	chr6:31621333-31621832	ECC-1	luminal epithelium:	n/a	n/a
7	MAX	chr6:31621421-31621847	K562	blood:	n/a	n/a
8	NR2F2	chr6:31619325-31621879	K562	blood:	n/a	n/a
9	POLR2A	chr6:31619444-31621803	HepG2	liver:	n/a	n/a
10	POLR2A	chr6:31619331-31621811	K562	blood:	n/a	n/a
11	POLR2A	chr6:31619073-31622056	K562	blood:	n/a	n/a
12	HEY1	chr6:31619066-31621862	K562	blood:	n/a	n/a
13	POLR2A	chr6:31619191-31621882	SK-N-MC	brain:	n/a	n/a
14	RCOR1	chr6:31621521-31621798	K562	blood:	n/a	n/a
15	POLR2A	chr6:31619380-31634380	HepG2	liver:	n/a	n/a
16	BCLAF1	chr6:31619674-31621877	K562	blood:	n/a	chr6:31620144-31620157 chr6:31620151-31620160 chr6:31621073-31621086 chr6:31620180-31620189
17	POLR2A	chr6:31621451-31621803	HCT-116	colon:	n/a	n/a
18	PML	chr6:31619278-31621839	K562	blood:	n/a	n/a
19	CBX3	chr6:31619458-31621803	K562	blood:	n/a	n/a
20	CBX3	chr6:31619239-31621873	K562	blood:	n/a	n/a
21	TEAD4	chr6:31619283-31621844	K562	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:31621761-31621811	AG09319	gingival:	n/a
2	chr6:31621765-31621815	ovcar-3	ovarian:	n/a
3	chr6:31621761-31621811	HMEC	breast:	n/a
4	chr6:31621765-31621815	HCM	heart:	n/a
5	chr6:31621761-31621811	U87	brain:	n/a
6	chr6:31621765-31621815	NT2-D1	testis:	n/a
7	chr6:31621761-31621811	AoSMC	blood vessel:	n/a
8	chr6:31621765-31621815	NB4	blood:	n/a
9	chr6:31621765-31621815	AoSMC	blood vessel:	n/a
10	chr6:31621761-31621811	HCPEpiC	choroid plexus:	n/a
11	chr6:31621761-31621811	NHBE	bronchial:	n/a
12	chr6:31621765-31621815	HCF	heart:	n/a
13	chr6:31621761-31621811	HCF	heart:	n/a
14	chr6:31621765-31621815	HEEpiC	esophagus:	n/a
15	chr6:31621761-31621811	GM12891	blood:	n/a
16	chr6:31621761-31621811	AG04450	lung:	fetal
17	chr6:31621761-31621811	LNCaP	prostate:	n/a
18	chr6:31621761-31621811	HRE	kidney:	n/a
19	chr6:31621761-31621811	HUVEC	blood vessel:	n/a
20	chr6:31621761-31621811	GM12892	blood:	n/a
21	chr6:31621761-31621811	Hepatocyte	liver:	n/a
22	chr6:31621765-31621815	Jurkat	blood:	n/a
23	chr6:31621761-31621811	Jurkat	blood:	n/a
24	chr6:31621761-31621811	GM19239	blood:	n/a
25	chr6:31621765-31621815	Hela-S3	cervix:	n/a
26	chr6:31621765-31621815	AG04450	lung:	fetal
27	chr6:31621761-31621811	PANC-1	pancreas:	n/a
28	chr6:31621765-31621815	A549	lung:	n/a
29	chr6:31621765-31621815	HL-60	blood:	n/a
30	chr6:31621761-31621811	SAEC	small airway:	n/a
31	chr6:31621765-31621815	MCF10A-Er-Src	breast:	n/a
32	chr6:31621761-31621811	Caco-2	colon:	n/a
33	chr6:31621765-31621815	GM12891	blood:	n/a
34	chr6:31621765-31621815	Hepatocyte	liver:	n/a
35	chr6:31621761-31621811	K562	blood:	n/a
36	chr6:31621761-31621811	NB4	blood:	n/a
37	chr6:31621761-31621811	RPTEC	kidney:	n/a
38	chr6:31621765-31621815	HAEpiC	amniotic membrane:	n/a
39	chr6:31621765-31621815	HRPEpiC	eye:	n/a
40	chr6:31621765-31621815	CMK	blood:	n/a
41	chr6:31621761-31621811	HepG2	liver:	n/a
42	chr6:31621765-31621815	Caco-2	colon:	n/a
43	chr6:31621765-31621815	HCPEpiC	choroid plexus:	n/a
44	chr6:31621761-31621811	BE2_C	brain:	n/a
45	chr6:31621765-31621815	RPTEC	kidney:	n/a
46	chr6:31621765-31621815	SKMC	muscle:	n/a
47	chr6:31621761-31621811	GM06990	blood:	n/a
48	chr6:31621765-31621815	T-47D	breast:	n/a
49	chr6:31621765-31621815	HUVEC	blood vessel:	n/a
50	chr6:31621761-31621811	NT2-D1	testis:	n/a

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:31617566..31622844-chr6:31826455..31835211,65	K562	blood:
2	chr6:31617977..31621822-chr6:31647367..31651078,5	MCF-7	breast:
3	chr6:31618484..31622073-chr6:31864833..31868659,4	K562	blood:
4	chr6:31617566..31630444-chr6:31823885..31836000,84	K562	blood:
5	chr6:31612905..31614877-chr6:31621124..31623765,2	MCF-7	breast:
6	chr6:31619534..31622102-chr6:31706429..31708950,2	MCF-7	breast:
7	chr6:31620047..31621951-chr6:31684387..31686402,3	MCF-7	breast:
8	chr6:31586197..31590294-chr6:31618213..31621899,10	MCF-7	breast:
9	chr6:31620739..31623442-chr6:31750369..31752880,2	MCF-7	breast:
10	chr6:31507205..31511686-chr6:31618024..31622039,13	K562	blood:
11	chr6:26186794..26189358-chr6:31620269..31622161,2	K562	blood:
12	chr6:31507451..31516055-chr6:31617949..31624791,11	MCF-7	breast:
13	chr6:31620215..31622719-chr6:31761944..31763523,2	MCF-7	breast:
14	chr6:31619174..31622035-chr6:31794476..31797735,3	MCF-7	breast:
15	chr6:31590578..31592519-chr6:31620452..31622488,2	MCF-7	breast:
16	chr6:31620775..31623476-chr6:31707593..31710385,2	MCF-7	breast:
17	chr6:31621359..31624108-chr6:31697605..31699324,2	MCF-7	breast:
18	chr6:31507406..31516955-chr6:31615847..31623354,26	K562	blood:
19	chr6:31512553..31516955-chr6:31618753..31622292,7	K562	blood:

No data

Variant related genes	Relation type
APOM	TF binding region
C6orf47-AS1	TF binding region
BAG6	TF binding region
APOM	CpG island
C6orf47-AS1	CpG island
BAG6	CpG island
ENSG00000204371	Chromatin interaction
ENSG00000255152	Chromatin interaction
ENSG00000204394	Chromatin interaction
ENSG00000234006	Chromatin interaction
ENSG00000198563	Chromatin interaction
ENSG00000204388	Chromatin interaction
ENSG00000204463	Chromatin interaction
ENSG00000204386	Chromatin interaction
ENSG00000213722	Chromatin interaction
ENSG00000200816	Chromatin interaction
ENSG00000265236	Chromatin interaction
ENSG00000204498	Chromatin interaction
ENSG00000204410	Chromatin interaction
ENSG00000213760	Chromatin interaction
ENSG00000204428	Chromatin interaction
ENSG00000166278	Chromatin interaction
ENSG00000213719	Chromatin interaction
ENSG00000204385	Chromatin interaction
ENSG00000254870	Chromatin interaction
ENSG00000204420	Chromatin interaction
ENSG00000204469	Chromatin interaction
ENSG00000188987	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12524442	0.83[AMR][1000 genomes]
rs12526606	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv601609	chr6:31280101-31799786	Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	332 gene(s)	inside rSNPs	diseases
2	nsv601610	chr6:31280101-31960770	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	370 gene(s)	inside rSNPs	diseases
3	nsv601628	chr6:31280327-31990098	Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	376 gene(s)	inside rSNPs	diseases
4	nsv601629	chr6:31280327-31996185	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	376 gene(s)	inside rSNPs	diseases
5	nsv601630	chr6:31280327-32011317	Genic enhancers Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	378 gene(s)	inside rSNPs	diseases
6	nsv601631	chr6:31280327-32017540	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	378 gene(s)	inside rSNPs	diseases
7	nsv1023939	chr6:31325961-32026747	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	372 gene(s)	inside rSNPs	diseases
8	nsv538188	chr6:31325961-32026747	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	372 gene(s)	inside rSNPs	diseases
9	nsv432868	chr6:31338844-31721033	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	250 gene(s)	inside rSNPs	diseases
10	nsv1021747	chr6:31386219-31907266	Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	330 gene(s)	inside rSNPs	diseases
11	nsv830627	chr6:31496214-31659950	Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
12	nsv884418	chr6:31525448-31741078	Active TSS Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	206 gene(s)	inside rSNPs	diseases
13	nsv1033154	chr6:31550614-32009410	Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	326 gene(s)	inside rSNPs	diseases
14	nsv462871	chr6:31575276-31632134	Strong transcription Genic enhancers Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	133 gene(s)	inside rSNPs	diseases
15	nsv601942	chr6:31575276-31632134	Flanking Active TSS Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	133 gene(s)	inside rSNPs	diseases
16	nsv884419	chr6:31585000-31632651	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	138 gene(s)	inside rSNPs	diseases
17	nsv884420	chr6:31586827-31632651	Genic enhancers Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	138 gene(s)	inside rSNPs	diseases
18	nsv884421	chr6:31588151-31631907	Active TSS Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	129 gene(s)	inside rSNPs	diseases
19	nsv884422	chr6:31592524-31631907	Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	83 gene(s)	inside rSNPs	diseases
20	nsv884424	chr6:31593729-31632651	Strong transcription Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	93 gene(s)	inside rSNPs	diseases
21	nsv1017945	chr6:31609641-32481240	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
22	esv3428142	chr6:31615800-31881809	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	257 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	chr6:31619600-31621800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr6:31619600-31621800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr6:31619600-31621800	Active TSS	HSMM	muscle
4	chr6:31619800-31621800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:31619800-31621800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr6:31620000-31621800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr6:31621000-31621800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
8	chr6:31621000-31621800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr6:31621000-31621800	Flanking Active TSS	Dnd41	blood
10	chr6:31621200-31621800	Enhancers	Pancreas	Pancrea
11	chr6:31621200-31621800	Enhancers	Sigmoid Colon	Sigmoid Colon
12	chr6:31621200-31621800	Flanking Active TSS	Hela-S3	cervix
13	chr6:31621200-31621800	Flanking Active TSS	K562	blood
14	chr6:31621200-31623000	Flanking Active TSS	HepG2	liver
15	chr6:31621200-31623400	Weak transcription	Small Intestine	intestine
16	chr6:31621200-31623600	Weak transcription	Gastric	stomach
17	chr6:31621200-31623800	Weak transcription	Lung	lung
18	chr6:31621200-31625000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr6:31621200-31625000	Weak transcription	Ovary	ovary
20	chr6:31621400-31621800	Enhancers	Primary B cells from cord blood	blood
21	chr6:31621400-31621800	Enhancers	Primary B cells from peripheral blood	blood
22	chr6:31621400-31621800	Enhancers	Primary T cells from cord blood	blood
23	chr6:31621400-31621800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr6:31621400-31621800	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr6:31621400-31621800	Enhancers	Fetal Stomach	stomach
26	chr6:31621400-31621800	Enhancers	Fetal Thymus	thymus
27	chr6:31621400-31621800	Enhancers	NHDF-Ad	bronchial
28	chr6:31621400-31622000	Enhancers	Fetal Muscle Trunk	muscle
29	chr6:31621400-31622200	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr6:31621400-31622200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr6:31621400-31622400	Enhancers	Primary T cells fromperipheralblood	blood
32	chr6:31621400-31622400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr6:31621400-31622600	Weak transcription	Fetal Brain Female	brain
34	chr6:31621400-31623800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr6:31621400-31623800	Weak transcription	Aorta	Aorta
36	chr6:31621400-31624000	Enhancers	Fetal Intestine Large	intestine
37	chr6:31621400-31624200	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr6:31621400-31627600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr6:31621400-31627600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr6:31621600-31621800	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr6:31621600-31621800	Enhancers	Primary hematopoietic stem cells	blood
42	chr6:31621600-31621800	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr6:31621600-31621800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr6:31621600-31621800	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr6:31621600-31621800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr6:31621600-31621800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr6:31621600-31621800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr6:31621600-31621800	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr6:31621600-31621800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr6:31621600-31621800	Active TSS	Adipose Nuclei	Adipose

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