Variant report

Variant	rs11752014
Chromosome Location	chr6:26323237-26323238
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:204)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:204 , 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	USF1	chr6:26322805-26323245	A549	lung:	n/a	chr6:26323046-26323057
2	RELA	chr6:26322870-26323563	GM18951	blood:	n/a	n/a
3	ZNF217	chr6:26322900-26323416	MCF-7	breast:	n/a	n/a
4	MAZ	chr6:26322225-26323447	Hela-S3	cervix:	n/a	n/a
5	TBP	chr6:26322770-26323314	Hela-S3	cervix:	n/a	n/a
6	TBL1XR1	chr6:26322261-26323598	K562	blood:	n/a	n/a
7	YY1	chr6:26322811-26323575	SK-N-SH	brain:	n/a	n/a
8	TEAD4	chr6:26322193-26323759	HepG2	liver:	n/a	n/a
9	MXI1	chr6:26322689-26323418	K562	blood:	n/a	n/a
10	GTF2F1	chr6:26322942-26323640	K562	blood:	n/a	n/a
11	USF1	chr6:26322757-26323526	ECC-1	luminal epithelium:	n/a	chr6:26323046-26323057
12	USF1	chr6:26322769-26323442	A549	lung:	n/a	chr6:26323046-26323057
13	STAT5A	chr6:26322953-26323566	K562	blood:	n/a	n/a
14	REST	chr6:26322950-26323439	A549	lung:	n/a	n/a
15	YY1	chr6:26322724-26323548	ECC-1	luminal epithelium:	n/a	n/a
16	SP4	chr6:26322774-26323284	H1-hESC	embryonic stem cell:	n/a	n/a
17	ETS1	chr6:26322917-26323343	A549	lung:	n/a	n/a
18	MAX	chr6:26322345-26323519	A549	lung:	n/a	n/a
19	TRIM28	chr6:26322053-26323670	K562	blood:	n/a	n/a
20	PML	chr6:26322072-26323530	GM12878	blood:	n/a	n/a
21	TBL1XR1	chr6:26322293-26323565	K562	blood:	n/a	n/a
22	TCF12	chr6:26322075-26323530	A549	lung:	n/a	n/a
23	USF1	chr6:26322746-26323467	K562	blood:	n/a	chr6:26323046-26323057
24	RELA	chr6:26322762-26323267	GM12878	blood:	n/a	n/a
25	ELF1	chr6:26322861-26323411	HepG2	liver:	n/a	n/a
26	TEAD4	chr6:26322804-26323380	A549	lung:	n/a	n/a
27	NR2F2	chr6:26321928-26323880	K562	blood:	n/a	n/a
28	MAX	chr6:26322471-26323294	HepG2	liver:	n/a	n/a
29	MAX	chr6:26322767-26323468	MCF-7	breast:	n/a	n/a
30	FOSL2	chr6:26322822-26323276	HepG2	liver:	n/a	n/a
31	MAX	chr6:26322846-26323270	H1-hESC	embryonic stem cell:	n/a	n/a
32	SIN3AK20	chr6:26322128-26323669	MCF-7	breast:	n/a	n/a
33	YY1	chr6:26322896-26323391	SK-N-SH_RA	brain:	n/a	n/a
34	SP1	chr6:26322782-26323615	A549	lung:	n/a	n/a
35	KAP1	chr6:26322237-26323816	U2OS	brain:	n/a	n/a
36	ZNF143	chr6:26322982-26323299	GM12878	blood:	n/a	chr6:26323276-26323295
37	MAX	chr6:26322130-26323482	HCT-116	colon:	n/a	n/a
38	JUND	chr6:26322833-26323343	H1-hESC	embryonic stem cell:	n/a	n/a
39	CHD2	chr6:26322930-26323491	K562	blood:	n/a	n/a
40	TBP	chr6:26322758-26323328	K562	blood:	n/a	n/a
41	EP300	chr6:26322794-26323303	GM12878	blood:	n/a	n/a
42	MAX	chr6:26322820-26323388	SK-N-SH	brain:	n/a	n/a
43	HCFC1	chr6:26322266-26323375	K562	blood:	n/a	n/a
44	CEBPB	chr6:26322933-26323519	HepG2	liver:	n/a	n/a
45	POLR3G	chr6:26322920-26323313	GM12878	blood:	n/a	n/a
46	NFIC	chr6:26322766-26323471	HepG2	liver:	n/a	n/a
47	GTF3C2	chr6:26322085-26323587	Hela-S3	cervix:	n/a	n/a
48	NR2F2	chr6:26322723-26323592	K562	blood:	n/a	n/a
49	ATF3	chr6:26322748-26323657	A549	lung:	n/a	n/a
50	HDAC2	chr6:26322870-26323474	MCF-7	breast:	n/a	chr6:26323143-26323157

No data

(count:4 , 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	chr6:26322866..26325773-chr6:26327005..26329096,3	MCF-7	breast:
4	chr6:26321606..26324992-chr6:26518176..26520933,3	K562	blood:

No data

Variant related genes	Relation type
HIST1H3PS1	TF binding region
ENSG00000199289	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

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]
rs1053860	0.83[JPT][hapmap];0.85[YRI][hapmap]
rs10946810	0.83[JPT][hapmap]
rs11751646	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11751978	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11752120	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]
rs11754384	0.85[CEU][hapmap]
rs11754701	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11755795	0.83[CEU][hapmap]
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]
rs11759682	0.85[CEU][hapmap];0.90[JPT][hapmap]
rs11759720	0.82[CHB][hapmap]
rs12665035	0.82[JPT][hapmap]
rs16891520	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16891523	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16891525	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];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]
rs1883213	0.83[JPT][hapmap]
rs1883214	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];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]
rs2893820	0.83[JPT][hapmap]
rs2893842	0.91[JPT][hapmap]
rs2893843	0.81[JPT][hapmap]
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]
rs3734533	0.82[CHB][hapmap]
rs3778279	0.83[JPT][hapmap];0.81[YRI][hapmap]
rs3823157	0.85[CEU][hapmap];0.90[JPT][hapmap]
rs4365922	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4412193	0.81[JPT][hapmap]
rs4631273	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];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]
rs6901243	0.85[CEU][hapmap];0.90[JPT][hapmap]
rs6914596	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6916643	0.91[CEU][hapmap]
rs6930616	0.81[JPT][hapmap]
rs6932584	0.89[JPT][hapmap]
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]
rs7755741	0.91[JPT][hapmap]
rs9358914	0.90[JPT][hapmap]
rs9358925	0.83[JPT][hapmap]
rs9358927	0.81[JPT][hapmap]
rs9366648	0.83[JPT][hapmap]
rs994379	0.83[JPT][hapmap];0.81[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 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	nsv969357	chr6:26321434-26323580	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	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:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:26318600-26323400	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr6:26321200-26323800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr6:26321400-26323400	Active TSS	GM12878-XiMat	blood
4	chr6:26321400-26323600	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr6:26321600-26323400	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr6:26321600-26323600	Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr6:26321600-26323600	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr6:26321600-26323600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr6:26321600-26323800	Active TSS	A549	lung
10	chr6:26321800-26323400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr6:26321800-26323600	Active TSS	HSMM	muscle
12	chr6:26321800-26323800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr6:26322000-26323400	Active TSS	Aorta	Aorta
14	chr6:26322000-26323600	Active TSS	Osteobl	bone
15	chr6:26322200-26323400	Active TSS	Primary T killer memory cells from peripheral blood	blood
16	chr6:26322200-26323400	Active TSS	Brain Hippocampus Middle	brain
17	chr6:26322200-26323600	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
18	chr6:26322600-26323400	Active TSS	Adipose Nuclei	Adipose
19	chr6:26322800-26323400	Active TSS	Primary hematopoietic stem cells	blood
20	chr6:26322800-26327200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr6:26322800-26327400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr6:26322800-26327400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr6:26322800-26327400	Weak transcription	NHLF	lung
24	chr6:26322800-26331200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr6:26323000-26323400	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr6:26323000-26323400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr6:26323000-26323400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr6:26323000-26323400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
29	chr6:26323000-26323400	Enhancers	Primary T cells fromperipheralblood	blood
30	chr6:26323000-26323400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr6:26323000-26323400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr6:26323000-26323400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr6:26323000-26323400	Enhancers	Placenta	Placenta
34	chr6:26323000-26323400	Enhancers	HMEC	breast
35	chr6:26323000-26323400	Weak transcription	NH-A	brain
36	chr6:26323000-26323400	Weak transcription	NHDF-Ad	bronchial
37	chr6:26323000-26323600	Flanking Active TSS	Dnd41	blood
38	chr6:26323000-26324400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr6:26323000-26326600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr6:26323000-26326800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr6:26323000-26327600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr6:26323200-26323400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
43	chr6:26323200-26323600	Flanking Active TSS	H9 Cell Line	embryonic stem cell
44	chr6:26323200-26323600	Flanking Active TSS	Hela-S3	cervix
45	chr6:26323200-26323600	Flanking Bivalent TSS/Enh	HepG2	liver
46	chr6:26323200-26324200	Flanking Active TSS	K562	blood

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