Variant report

Variant	rs11752120
Chromosome Location	chr6:26323592-26323593
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:52)
CpG islands
(count:122)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:52 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TBL1XR1	chr6:26322261-26323598	K562	blood:	n/a	n/a
2	TEAD4	chr6:26322193-26323759	HepG2	liver:	n/a	n/a
3	GTF2F1	chr6:26322942-26323640	K562	blood:	n/a	n/a
4	TRIM28	chr6:26322053-26323670	K562	blood:	n/a	n/a
5	NR2F2	chr6:26321928-26323880	K562	blood:	n/a	n/a
6	SIN3AK20	chr6:26322128-26323669	MCF-7	breast:	n/a	n/a
7	SP1	chr6:26322782-26323615	A549	lung:	n/a	n/a
8	KAP1	chr6:26322237-26323816	U2OS	brain:	n/a	n/a
9	NR2F2	chr6:26322723-26323592	K562	blood:	n/a	n/a
10	ATF3	chr6:26322748-26323657	A549	lung:	n/a	n/a
11	CREB1	chr6:26322344-26323791	HepG2	liver:	n/a	n/a
12	POLR2A	chr6:26322784-26323688	PANC-1	pancreas:	n/a	n/a
13	MAX	chr6:26322247-26323899	NB4	blood:	n/a	n/a
14	TEAD4	chr6:26322558-26323662	SK-N-SH	brain:	n/a	n/a
15	YY1	chr6:26323157-26323654	K562	blood:	n/a	n/a
16	MYBL2	chr6:26321992-26323804	HepG2	liver:	n/a	n/a
17	ATF3	chr6:26322573-26323714	A549	lung:	n/a	n/a
18	MTA3	chr6:26322628-26323618	GM12878	blood:	n/a	n/a
19	KAP1	chr6:26322093-26324352	HEK293	kidney:	n/a	n/a
20	CREB1	chr6:26322322-26323870	K562	blood:	n/a	n/a
21	GTF3C2	chr6:26322221-26323623	K562	blood:	n/a	n/a
22	SREBP2	chr6:26320539-26323780	GM12878	blood:	n/a	n/a
23	CEBPB	chr6:26322916-26323736	K562	blood:	n/a	n/a
24	MYBL2	chr6:26321975-26324895	HepG2	liver:	n/a	n/a
25	JUND	chr6:26322248-26323606	K562	blood:	n/a	n/a
26	ATF3	chr6:26322740-26323653	K562	blood:	n/a	n/a
27	RPC155	chr6:26322820-26323609	Hela-S3	cervix:	n/a	n/a
28	IRF1	chr6:26322906-26323597	K562	blood:	n/a	n/a
29	ZNF143	chr6:26322948-26323675	K562	blood:	n/a	chr6:26323276-26323295
30	MAX	chr6:26321967-26323693	K562	blood:	n/a	n/a
31	HEY1	chr6:26323365-26323711	K562	blood:	n/a	n/a
32	CUX1	chr6:26322901-26323600	K562	blood:	n/a	n/a
33	MYC	chr6:26322222-26323621	NB4	blood:	n/a	n/a
34	MAX	chr6:26322835-26323601	ECC-1	luminal epithelium:	n/a	n/a
35	ARID3A	chr6:26322150-26323650	HepG2	liver:	n/a	n/a
36	CBX3	chr6:26322212-26323662	K562	blood:	n/a	n/a
37	TEAD4	chr6:26322020-26323910	K562	blood:	n/a	n/a
38	MYC	chr6:26322236-26323686	K562	blood:	n/a	n/a
39	RCOR1	chr6:26322856-26323668	K562	blood:	n/a	n/a
40	TEAD4	chr6:26322769-26323665	ECC-1	luminal epithelium:	n/a	n/a
41	CEBPB	chr6:26322842-26323664	K562	blood:	n/a	n/a
42	RXRA	chr6:26322750-26323678	SK-N-SH	brain:	n/a	n/a
43	IRF1	chr6:26322773-26323674	K562	blood:	n/a	n/a
44	TEAD4	chr6:26322766-26323722	K562	blood:	n/a	n/a
45	IRF1	chr6:26322953-26323732	K562	blood:	n/a	n/a
46	MBD4	chr6:26322835-26323640	HepG2	liver:	n/a	n/a
47	RCOR1	chr6:26322228-26323596	K562	blood:	n/a	n/a
48	JUN	chr6:26322217-26323638	K562	blood:	n/a	n/a
49	POLR2A	chr6:26321218-26326187	K562	blood:	n/a	n/a
50	TEAD4	chr6:26322658-26323605	ECC-1	luminal epithelium:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:26323586-26323636	IMR90	lung:	fetal
2	chr6:26323563-26323613	Hela-S3	cervix:	n/a
3	chr6:26323563-26323613	HEEpiC	esophagus:	n/a
4	chr6:26323563-26323613	HIPEpiC	eye:	n/a
5	chr6:26323563-26323613	HRPEpiC	eye:	n/a
6	chr6:26323586-26323636	AG09319	gingival:	n/a
7	chr6:26323563-26323613	U87	brain:	n/a
8	chr6:26323563-26323613	PANC-1	pancreas:	n/a
9	chr6:26323586-26323636	PFSK-1	brain:	n/a
10	chr6:26323563-26323613	HL-60	blood:	n/a
11	chr6:26323586-26323636	HepG2	liver:	n/a
12	chr6:26323563-26323613	GM06990	blood:	n/a
13	chr6:26323563-26323613	H1-hESC	embryonic stem cell:	embryo
14	chr6:26323563-26323613	AG09319	gingival:	n/a
15	chr6:26323586-26323636	GM06990	blood:	n/a
16	chr6:26323563-26323613	NB4	blood:	n/a
17	chr6:26323563-26323613	HEK293	kidney:	embryo
18	chr6:26323563-26323613	T-47D	breast:	n/a
19	chr6:26323563-26323613	SK-N-SH	brain:	n/a
20	chr6:26323586-26323636	NHBE	bronchial:	n/a
21	chr6:26323563-26323613	HMEC	breast:	n/a
22	chr6:26323586-26323636	HCF	heart:	n/a
23	chr6:26323586-26323636	SK-N-SH	brain:	n/a
24	chr6:26323586-26323636	HCPEpiC	choroid plexus:	n/a
25	chr6:26323563-26323613	ovcar-3	ovarian:	n/a
26	chr6:26323563-26323613	HCM	heart:	n/a
27	chr6:26323586-26323636	Caco-2	colon:	n/a
28	chr6:26323563-26323613	AG10803	skin:	n/a
29	chr6:26323586-26323636	HL-60	blood:	n/a
30	chr6:26323586-26323636	Jurkat	blood:	n/a
31	chr6:26323586-26323636	HAEpiC	amniotic membrane:	n/a
32	chr6:26323563-26323613	CMK	blood:	n/a
33	chr6:26323586-26323636	HUVEC	blood vessel:	n/a
34	chr6:26323563-26323613	ProgFib	skin:	n/a
35	chr6:26323586-26323636	PANC-1	pancreas:	n/a
36	chr6:26323586-26323636	LNCaP	prostate:	n/a
37	chr6:26323563-26323613	NH-A	brain:	n/a
38	chr6:26323586-26323636	CMK	blood:	n/a
39	chr6:26323586-26323636	A549	lung:	n/a
40	chr6:26323563-26323613	GM19239	blood:	n/a
41	chr6:26323586-26323636	HEEpiC	esophagus:	n/a
42	chr6:26323586-26323636	K562	blood:	n/a
43	chr6:26323586-26323636	AG10803	skin:	n/a
44	chr6:26323586-26323636	Hela-S3	cervix:	n/a
45	chr6:26323586-26323636	T-47D	breast:	n/a
46	chr6:26323563-26323613	PFSK-1	brain:	n/a
47	chr6:26323563-26323613	A549	lung:	n/a
48	chr6:26323563-26323613	HAEpiC	amniotic membrane:	n/a
49	chr6:26323563-26323613	HCPEpiC	choroid plexus:	n/a
50	chr6:26323586-26323636	AG04449	skin:	fetal

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

No.	Distal block	Cell Line	Cell type
1	chr6:26323184..26324056-chr6:26341539..26342363,2	K562	blood:
2	chr6:26273199..26275817-chr6:26322608..26324495,2	MCF-7	breast:
3	chr6:26250927..26253821-chr6:26323382..26326014,4	MCF-7	breast:
4	chr6:26323417..26326776-chr6:26326785..26329865,3	MCF-7	breast:
5	chr6:26322866..26325773-chr6:26327005..26329096,3	MCF-7	breast:
6	chr6:26321606..26324992-chr6:26518176..26520933,3	K562	blood:
7	chr6:26323439..26325517-chr6:27099019..27100610,2	K562	blood:

No data

Variant related genes	Relation type
HIST1H3PS1	TF binding region
HIST1H3PS1	CpG island
ENSG00000199289	Chromatin interaction
ENSG00000124635	Chromatin interaction
ENSG00000197459	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10484438	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11751646	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11751978	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11752014	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11752202	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11753590	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11754701	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11755996	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11756569	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11758318	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16891520	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16891523	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16891525	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16891529	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1883214	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2393594	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34581160	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35190365	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35709300	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4365922	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4631273	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59315883	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6899837	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6914596	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397342	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73399344	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73399348	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73399351	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73399373	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73399386	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029920	chr6:25638507-26585842	Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1215 gene(s)	inside rSNPs	diseases
2	nsv538162	chr6:25638507-26585842	Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1215 gene(s)	inside rSNPs	diseases
3	nsv1030351	chr6:25813178-26352046	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1189 gene(s)	inside rSNPs	diseases
4	nsv1023453	chr6:25853830-26528250	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1201 gene(s)	inside rSNPs	diseases
5	nsv428137	chr6:25987413-26351920	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1181 gene(s)	inside rSNPs	diseases
6	nsv1015782	chr6:26026870-26323895	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1114 gene(s)	inside rSNPs	diseases
7	nsv1018665	chr6:26026870-26352046	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1116 gene(s)	inside rSNPs	diseases
8	nsv482729	chr6:26291011-26470898	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
9	nsv5230	chr6:26321593-26361531	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:26321200-26323800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr6:26321400-26323600	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr6:26321600-26323600	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr6:26321600-26323600	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr6:26321600-26323600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr6:26321600-26323800	Active TSS	A549	lung
7	chr6:26321800-26323600	Active TSS	HSMM	muscle
8	chr6:26321800-26323800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr6:26322000-26323600	Active TSS	Osteobl	bone
10	chr6:26322200-26323600	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
11	chr6:26322800-26327200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr6:26322800-26327400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr6:26322800-26327400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr6:26322800-26327400	Weak transcription	NHLF	lung
15	chr6:26322800-26331200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr6:26323000-26323600	Flanking Active TSS	Dnd41	blood
17	chr6:26323000-26324400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr6:26323000-26326600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr6:26323000-26326800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr6:26323000-26327600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr6:26323200-26323600	Flanking Active TSS	H9 Cell Line	embryonic stem cell
22	chr6:26323200-26323600	Flanking Active TSS	Hela-S3	cervix
23	chr6:26323200-26323600	Flanking Bivalent TSS/Enh	HepG2	liver
24	chr6:26323200-26324200	Flanking Active TSS	K562	blood
25	chr6:26323400-26323600	Enhancers	H1 Cell Line	embryonic stem cell
26	chr6:26323400-26323600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr6:26323400-26323600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr6:26323400-26323600	Bivalent/Poised TSS	Primary hematopoietic stem cells	blood
29	chr6:26323400-26323600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr6:26323400-26323600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr6:26323400-26323600	Flanking Active TSS	GM12878-XiMat	blood
32	chr6:26323400-26323600	Enhancers	NH-A	brain
33	chr6:26323400-26323600	Enhancers	NHDF-Ad	bronchial
34	chr6:26323400-26327000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr6:26323400-26327200	Weak transcription	Placenta	Placenta
36	chr6:26323400-26327200	Weak transcription	HMEC	breast
37	chr6:26323400-26327600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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