Variant report

Variant	rs9475757
Chromosome Location	chr6:56815948-56815949
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr6:56815874-56816232	K562	blood:	n/a	chr6:56816036-56816045 chr6:56816081-56816092 chr6:56816038-56816049
2	MAFF	chr6:56815878-56816206	K562	blood:	n/a	n/a
3	GABPA	chr6:56815705-56816153	SK-N-SH	brain:	n/a	n/a
4	MYC	chr6:56815945-56815979	K562	blood:	n/a	n/a
5	NFIC	chr6:56815831-56816228	GM12878	blood:	n/a	n/a
6	RCOR1	chr6:56815869-56816139	K562	blood:	n/a	n/a
7	IRF1	chr6:56815904-56816199	K562	blood:	n/a	chr6:56816123-56816136 chr6:56816117-56816137 chr6:56816121-56816135 chr6:56816126-56816137 chr6:56816111-56816131 chr6:56816125-56816135
8	POLR2A	chr6:56815776-56816139	SK-N-SH	brain:	n/a	n/a
9	POLR2A	chr6:56815707-56816080	GM12891	blood:	n/a	n/a
10	BHLHE40	chr6:56815889-56816082	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:56815929-56815979	HRCEpiC	kidney:	n/a
2	chr6:56815929-56815979	PFSK-1	brain:	n/a
3	chr6:56815929-56815979	MCF10A-Er-Src	breast:	n/a
4	chr6:56815929-56815979	SK-N-SH	brain:	n/a
5	chr6:56815929-56815979	AG09309	skin:	n/a
6	chr6:56815929-56815979	RPTEC	kidney:	n/a
7	chr6:56815929-56815979	Caco-2	colon:	n/a
8	chr6:56815929-56815979	GM12878	blood:	n/a
9	chr6:56815929-56815979	GM06990	blood:	n/a
10	chr6:56815929-56815979	HRE	kidney:	n/a
11	chr6:56815929-56815979	SK-N-SH_RA	brain:	n/a
12	chr6:56815929-56815979	ProgFib	skin:	n/a
13	chr6:56815929-56815979	IMR90	lung:	fetal
14	chr6:56815929-56815979	HCM	heart:	n/a
15	chr6:56815929-56815979	PrEC	prostate:	n/a
16	chr6:56815929-56815979	T-47D	breast:	n/a
17	chr6:56815929-56815979	HCT-116	colon:	n/a
18	chr6:56815929-56815979	BJ	skin:	n/a
19	chr6:56815929-56815979	NT2-D1	testis:	n/a
20	chr6:56815929-56815979	AoSMC	blood vessel:	n/a
21	chr6:56815929-56815979	HepG2	liver:	n/a
22	chr6:56815929-56815979	H1-hESC	embryonic stem cell:	embryo
23	chr6:56815929-56815979	LNCaP	prostate:	n/a
24	chr6:56815929-56815979	SKMC	muscle:	n/a
25	chr6:56815929-56815979	HL-60	blood:	n/a
26	chr6:56815929-56815979	ovcar-3	ovarian:	n/a
27	chr6:56815929-56815979	CMK	blood:	n/a
28	chr6:56815929-56815979	GM12891	blood:	n/a
29	chr6:56815929-56815979	HEK293	kidney:	embryo
30	chr6:56815929-56815979	Jurkat	blood:	n/a
31	chr6:56815929-56815979	Hela-S3	cervix:	n/a
32	chr6:56815929-56815979	U87	brain:	n/a
33	chr6:56815929-56815979	NHBE	bronchial:	n/a
34	chr6:56815929-56815979	HIPEpiC	eye:	n/a
35	chr6:56815929-56815979	HAEpiC	amniotic membrane:	n/a
36	chr6:56815929-56815979	PANC-1	pancreas:	n/a
37	chr6:56815929-56815979	HMEC	breast:	n/a
38	chr6:56815929-56815979	AG09319	gingival:	n/a
39	chr6:56815929-56815979	HCPEpiC	choroid plexus:	n/a
40	chr6:56815929-56815979	SK-N-MC	brain:	n/a
41	chr6:56815929-56815979	NH-A	brain:	n/a
42	chr6:56815929-56815979	A549	lung:	n/a
43	chr6:56815929-56815979	NB4	blood:	n/a
44	chr6:56815929-56815979	AG04450	lung:	fetal
45	chr6:56815929-56815979	HEEpiC	esophagus:	n/a
46	chr6:56815929-56815979	HCF	heart:	n/a
47	chr6:56815929-56815979	Hepatocyte	liver:	n/a
48	chr6:56815929-56815979	AG04449	skin:	fetal
49	chr6:56815929-56815979	HPAEpiC	pulmonary alveolar:	n/a
50	chr6:56815929-56815979	K562	blood:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:56813824..56816649-chr6:56884972..56886715,2	K562	blood:
2	chr6:56813560..56816424-chr6:56821895..56824578,2	K562	blood:
3	chr6:56815308..56817719-chr6:56918047..56920182,2	K562	blood:
4	chr6:56799165..56801512-chr6:56813694..56816410,2	K562	blood:

No data

Variant related genes	Relation type
BEND6	TF binding region
BEND6	CpG island

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs1007417	0.99[ASN][1000 genomes]
rs1016048	1.00[ASN][1000 genomes]
rs10498814	0.96[EUR][1000 genomes]
rs12175661	0.96[EUR][1000 genomes]
rs13205191	0.96[EUR][1000 genomes]
rs1597694	0.99[ASN][1000 genomes]
rs16888268	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17685356	0.99[ASN][1000 genomes]
rs17758527	0.96[EUR][1000 genomes]
rs17758663	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1839837	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2006930	0.99[ASN][1000 genomes]
rs2008698	1.00[ASN][1000 genomes]
rs2306011	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28498151	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34589109	0.96[ASN][1000 genomes]
rs34703235	0.94[ASN][1000 genomes]
rs34896907	0.97[ASN][1000 genomes]
rs35553446	1.00[ASN][1000 genomes]
rs4576249	0.96[EUR][1000 genomes]
rs57994994	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58099889	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58332182	0.88[EUR][1000 genomes]
rs59106338	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60401134	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60910121	0.92[EUR][1000 genomes]
rs62411412	0.88[EUR][1000 genomes]
rs62411417	0.92[EUR][1000 genomes]
rs62411418	0.92[EUR][1000 genomes]
rs62411419	0.92[EUR][1000 genomes]
rs62411420	0.96[EUR][1000 genomes]
rs62411421	0.96[EUR][1000 genomes]
rs62411422	0.96[EUR][1000 genomes]
rs62411423	0.96[EUR][1000 genomes]
rs62411425	0.96[EUR][1000 genomes]
rs62411430	0.96[EUR][1000 genomes]
rs62417377	0.96[EUR][1000 genomes]
rs62417378	0.94[EUR][1000 genomes]
rs62417384	1.00[ASN][1000 genomes]
rs62417385	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62417410	0.99[ASN][1000 genomes]
rs6901192	0.90[ASN][1000 genomes]
rs6901660	0.99[ASN][1000 genomes]
rs6915492	0.99[ASN][1000 genomes]
rs6924882	0.99[ASN][1000 genomes]
rs6935636	0.99[ASN][1000 genomes]
rs720885	0.90[ASN][1000 genomes]
rs7760435	1.00[ASN][1000 genomes]
rs9349842	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9357936	0.96[EUR][1000 genomes]
rs9367700	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9367701	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9367702	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9370550	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9370552	0.99[ASN][1000 genomes]
rs9370553	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9370554	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9382669	1.00[ASN][1000 genomes]
rs9382670	1.00[ASN][1000 genomes]
rs9382673	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9382674	0.99[ASN][1000 genomes]
rs9382675	0.99[ASN][1000 genomes]
rs9396238	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9396240	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9396245	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9396246	1.00[ASN][1000 genomes]
rs9396249	0.99[ASN][1000 genomes]
rs9396251	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9396254	0.96[EUR][1000 genomes]
rs9464411	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9464412	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9464413	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9475758	1.00[ASN][1000 genomes]
rs9475760	1.00[ASN][1000 genomes]
rs9475761	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9475762	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9475763	1.00[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	nsv491933	chr6:56177722-57171010	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv934026	chr6:56382056-57184218	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv533050	chr6:56504480-57297586	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv1021651	chr6:56569444-56966319	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv538228	chr6:56569444-56966319	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	nsv1022714	chr6:56729767-56826642	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv538229	chr6:56729767-56826642	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:56804200-56818000	Weak transcription	HSMM	muscle
2	chr6:56806600-56817800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr6:56806600-56818000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:56806600-56818400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr6:56810000-56818200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr6:56812600-56816200	Genic enhancers	Osteobl	bone
7	chr6:56812600-56817400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr6:56812800-56816000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr6:56813000-56817400	Weak transcription	Hela-S3	cervix
10	chr6:56813200-56816000	Genic enhancers	NHDF-Ad	bronchial
11	chr6:56813200-56818200	Weak transcription	HSMMtube	muscle
12	chr6:56813400-56816200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr6:56813600-56817000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr6:56813600-56817600	Weak transcription	HMEC	breast
15	chr6:56813800-56816000	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr6:56813800-56816800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr6:56813800-56816800	Enhancers	NH-A	brain
18	chr6:56814000-56816000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr6:56814200-56817200	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr6:56814600-56816000	Enhancers	HUVEC	blood vessel
21	chr6:56814600-56818200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr6:56814800-56816200	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr6:56814800-56816200	Enhancers	Brain Cingulate Gyrus	brain
24	chr6:56814800-56818400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr6:56815000-56816000	Enhancers	Brain Hippocampus Middle	brain
26	chr6:56815200-56816200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr6:56815200-56816600	Enhancers	NHLF	lung
28	chr6:56815200-56818600	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr6:56815400-56816200	Enhancers	Brain Anterior Caudate	brain
30	chr6:56815400-56817600	Weak transcription	Brain Substantia Nigra	brain
31	chr6:56815400-56818200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr6:56815600-56816200	Enhancers	K562	blood
33	chr6:56815600-56817600	Weak transcription	Brain Angular Gyrus	brain
34	chr6:56815600-56817800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr6:56815600-56818000	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr6:56815800-56816000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr6:56815800-56816000	Bivalent Enhancer	Thymus	Thymus
38	chr6:56815800-56816200	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr6:56815800-56816200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr6:56815800-56816200	Enhancers	NHEK	skin
41	chr6:56815800-56816600	Enhancers	Muscle Satellite Cultured Cells	--
42	chr6:56815800-56816600	Enhancers	A549	lung
43	chr6:56815800-56816600	Flanking Active TSS	GM12878-XiMat	blood
44	chr6:56815800-56818200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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