Variant report

Variant	rs7751576
Chromosome Location	chr6:27774741-27774742
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:182)
CpG islands
(count:0)
Chromatin interactive
region (count:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:182 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:27774540-27777234	PANC-1	pancreas:	n/a	n/a
2	CTCF	chr6:27774720-27774870	HPF	lung:	n/a	n/a
3	CEBPD	chr6:27774575-27775050	K562	blood:	n/a	chr6:27774827-27774838
4	TAF7	chr6:27774212-27776082	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr6:27774720-27774870	HPAF	blood vessel:	n/a	n/a
6	POU2F2	chr6:27774658-27776961	GM12878	blood:	n/a	n/a
7	POLR2A	chr6:27774575-27779531	GM12891	blood:	n/a	n/a
8	CTCF	chr6:27774700-27774850	BE2_C	brain:	n/a	chr6:27774719-27774727
9	CEBPD	chr6:27774198-27775387	K562	blood:	n/a	chr6:27774827-27774838
10	TEAD4	chr6:27774692-27777073	HepG2	liver:	n/a	n/a
11	POLR2A	chr6:27774397-27776944	K562	blood:	n/a	n/a
12	MYC	chr6:27774708-27776113	NB4	blood:	n/a	n/a
13	NR2F2	chr6:27774632-27775477	K562	blood:	n/a	n/a
14	POLR2A	chr6:27773932-27776060	K562	blood:	n/a	n/a
15	POLR2A	chr6:27774382-27779662	K562	blood:	n/a	n/a
16	MAX	chr6:27774721-27775508	K562	blood:	n/a	n/a
17	POLR2A	chr6:27774349-27776475	MCF-7	breast:	n/a	n/a
18	MYBL2	chr6:27774663-27777031	HepG2	liver:	n/a	n/a
19	POLR2A	chr6:27774642-27777227	GM12892	blood:	n/a	n/a
20	CEBPB	chr6:27774637-27775023	K562	blood:	n/a	n/a
21	POLR2A	chr6:27774553-27777195	GM15510	blood:	n/a	n/a
22	CEBPB	chr6:27774524-27775309	A549	lung:	n/a	n/a
23	MAX	chr6:27774668-27775463	HepG2	liver:	n/a	n/a
24	CTCF	chr6:27774740-27774890	HCFaa	heart:	n/a	n/a
25	POLR2A	chr6:27774376-27777210	GM12892	blood:	n/a	n/a
26	HEY1	chr6:27774566-27777492	HepG2	liver:	n/a	n/a
27	PAX5	chr6:27774715-27775123	GM12878	blood:	n/a	n/a
28	CEBPB	chr6:27774613-27775197	MCF-7	breast:	n/a	n/a
29	EP300	chr6:27774639-27776110	A549	lung:	n/a	n/a
30	POLR2A	chr6:27774441-27779690	PBDE	blood:	n/a	n/a
31	CTCF	chr6:27774740-27774890	HRPEpiC	eye:	n/a	n/a
32	SIN3AK20	chr6:27774670-27775338	MCF-7	breast:	n/a	n/a
33	POLR2A	chr6:27774262-27776064	K562	blood:	n/a	n/a
34	POLR2A	chr6:27774601-27777197	GM12892	blood:	n/a	n/a
35	MAX	chr6:27774354-27775791	K562	blood:	n/a	n/a
36	CTCF	chr6:27774720-27774870	HEK293	kidney:	n/a	n/a
37	POLR2A	chr6:27774473-27776887	GM12878	blood:	n/a	n/a
38	ZBTB33	chr6:27774691-27775278	A549	lung:	n/a	n/a
39	IRF1	chr6:27774348-27775243	K562	blood:	n/a	n/a
40	CEBPB	chr6:27774591-27777002	GM12878	blood:	n/a	chr6:27775815-27775826 chr6:27775881-27775889
41	POLR2A	chr6:27774370-27779564	K562	blood:	n/a	n/a
42	PAX5	chr6:27774676-27776512	GM12878	blood:	n/a	n/a
43	BCLAF1	chr6:27774321-27776113	K562	blood:	n/a	n/a
44	CTCF	chr6:27774720-27774870	RPTEC	kidney:	n/a	n/a
45	POLR2A	chr6:27774461-27777155	SK-N-SH	brain:	n/a	n/a
46	CTCF	chr6:27774740-27774890	AG04450	lung:	n/a	n/a
47	CEBPB	chr6:27774325-27775323	K562	blood:	n/a	n/a
48	TAF7	chr6:27774689-27775124	K562	blood:	n/a	n/a
49	PML	chr6:27774199-27776086	K562	blood:	n/a	n/a
50	NR2F2	chr6:27774322-27778012	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr6:26203418..26208290-chr6:27773529..27778557,7	MCF-7	breast:
2	chr6:26055768..26057563-chr6:27773736..27776348,2	MCF-7	breast:
3	chr6:27356362..27358956-chr6:27773296..27775539,3	K562	blood:
4	chr2:242640497..242642008-chr6:27772593..27775464,2	MCF-7	breast:
5	chr6:27112242..27117659-chr6:27770082..27780470,17	MCF-7	breast:
6	chr6:27093369..27111594-chr6:27770152..27782376,64	K562	blood:
7	chr6:26025755..26029009-chr6:27774713..27777489,4	MCF-7	breast:
8	chr6:26029311..26033760-chr6:27774369..27777821,5	MCF-7	breast:
9	chr6:26282374..26290542-chr6:27772727..27779446,9	MCF-7	breast:
10	chr6:27098259..27104331-chr6:27773668..27779939,16	MCF-7	breast:
11	chr6:27093465..27120217-chr6:27768366..27817187,256	K562	blood:
12	chr4:74123460..74124971-chr6:27773658..27776230,2	MCF-7	breast:
13	chr6:26270357..26275628-chr6:27773210..27778290,5	MCF-7	breast:
14	chr6:26196862..26203126-chr6:27774221..27779033,8	MCF-7	breast:
15	chr6:27217680..27220381-chr6:27773874..27775997,2	K562	blood:
16	chr6:27094403..27106138-chr6:27772392..27783072,46	MCF-7	breast:
17	chr6:27111360..27127716-chr6:27768319..27787545,69	MCF-7	breast:
18	chr6:26216294..26218815-chr6:27772946..27775743,3	MCF-7	breast:
19	chr6:27774293..27778194-chr6:28301096..28304976,3	K562	blood:
20	chr6:27111749..27120986-chr6:27774460..27781468,38	K562	blood:
21	chr6:26197916..26207803-chr6:27772547..27779655,13	K562	blood:

No data

Variant related genes	Relation type
HIST1H2AI	TF binding region
HIST1H3H	TF binding region
HIST1H4PS1	TF binding region
ENSG00000124529	Chromatin interaction
ENSG00000217275	Chromatin interaction
ENSG00000124693	Chromatin interaction
ENSG00000168274	Chromatin interaction
ENSG00000112812	Chromatin interaction
ENSG00000197409	Chromatin interaction
ENSG00000187837	Chromatin interaction
ENSG00000168395	Chromatin interaction
ENSG00000196866	Chromatin interaction
ENSG00000132466	Chromatin interaction
ENSG00000235109	Chromatin interaction
ENSG00000197846	Chromatin interaction
ENSG00000218690	Chromatin interaction
ENSG00000198339	Chromatin interaction
ENSG00000187990	Chromatin interaction
ENSG00000124613	Chromatin interaction
ENSG00000124635	Chromatin interaction
ENSG00000197903	Chromatin interaction
ENSG00000250220	Chromatin interaction
ENSG00000198518	Chromatin interaction
ENSG00000158406	Chromatin interaction
ENSG00000196787	Chromatin interaction
ENSG00000265565	Chromatin interaction
ENSG00000168242	Chromatin interaction
ENSG00000256018	Chromatin interaction
ENSG00000184825	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs59532390	1.00[AMR][1000 genomes]
rs6922926	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs73384335	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73385127	0.89[AFR][1000 genomes]
rs73385132	0.89[AFR][1000 genomes]
rs73385144	0.89[AFR][1000 genomes]
rs73387079	0.89[AFR][1000 genomes]
rs73387082	0.89[AFR][1000 genomes]
rs73389013	1.00[AFR][1000 genomes]
rs73389015	1.00[AFR][1000 genomes]
rs73389035	1.00[AFR][1000 genomes]
rs7769956	0.89[AFR][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	nsv1022797	chr6:27396961-27864277	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	390 gene(s)	inside rSNPs	diseases
2	nsv830618	chr6:27593274-27789605	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
3	nsv432858	chr6:27719375-28011652	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	387 gene(s)	inside rSNPs	diseases
4	nsv1017440	chr6:27734824-27864277	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	370 gene(s)	inside rSNPs	diseases
5	nsv1022173	chr6:27734824-27959408	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	379 gene(s)	inside rSNPs	diseases
6	nsv1017057	chr6:27745777-27789683	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	125 gene(s)	inside rSNPs	diseases
7	nsv883512	chr6:27748631-27969004	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	379 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27773400-27775200	Flanking Active TSS	GM12878-XiMat	blood
2	chr6:27774200-27774800	Weak transcription	Right Atrium	heart
3	chr6:27774200-27775400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr6:27774200-27775400	Flanking Active TSS	Dnd41	blood
5	chr6:27774200-27775400	Flanking Active TSS	HMEC	breast
6	chr6:27774200-27778000	Active TSS	K562	blood
7	chr6:27774200-27779200	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr6:27774200-27779200	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr6:27774200-27779400	Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr6:27774200-27779800	Active TSS	iPS-18 Cell Line	embryonic stem cell
11	chr6:27774200-27779800	Active TSS	Thymus	Thymus
12	chr6:27774200-27779800	Active TSS	A549	lung
13	chr6:27774400-27774800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr6:27774400-27774800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr6:27774400-27774800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr6:27774400-27774800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr6:27774400-27774800	Enhancers	Primary B cells from peripheral blood	blood
18	chr6:27774400-27774800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr6:27774400-27774800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr6:27774400-27774800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr6:27774400-27774800	Bivalent Enhancer	Colon Smooth Muscle	Colon
22	chr6:27774400-27774800	Flanking Active TSS	Fetal Intestine Small	intestine
23	chr6:27774400-27774800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
24	chr6:27774400-27774800	Enhancers	Stomach Mucosa	stomach
25	chr6:27774400-27774800	Enhancers	HUVEC	blood vessel
26	chr6:27774400-27774800	Active TSS	Osteobl	bone
27	chr6:27774400-27775000	Flanking Active TSS	Fetal Stomach	stomach
28	chr6:27774400-27775000	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr6:27774400-27775000	Flanking Active TSS	HepG2	liver
30	chr6:27774400-27775200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr6:27774400-27775200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
32	chr6:27774400-27775400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
33	chr6:27774400-27775400	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr6:27774400-27775400	Flanking Active TSS	Primary hematopoietic stem cells	blood
35	chr6:27774400-27775400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr6:27774400-27775400	Flanking Active TSS	Fetal Thymus	thymus
37	chr6:27774400-27775400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
38	chr6:27774400-27775400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
39	chr6:27774400-27775400	Flanking Active TSS	NHEK	skin
40	chr6:27774400-27775600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
41	chr6:27774400-27775600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr6:27774400-27775600	Flanking Active TSS	Fetal Muscle Trunk	muscle
43	chr6:27774400-27776200	Active TSS	Rectal Smooth Muscle	rectum
44	chr6:27774400-27776400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr6:27774400-27776400	Bivalent/Poised TSS	Brain Anterior Caudate	brain
46	chr6:27774400-27776400	Active TSS	Fetal Kidney	kidney
47	chr6:27774400-27776400	Active TSS	Fetal Lung	lung
48	chr6:27774400-27776400	Active TSS	NHLF	lung
49	chr6:27774400-27776800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr6:27774400-27776800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin

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