Variant report

Variant	rs761582
Chromosome Location	chr6:33396315-33396316
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:142)
CpG islands
(count:61)
Chromatin interactive
region (count:29)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:142 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EGR1	chr6:33395345-33396753	K562	blood:	n/a	chr6:33396161-33396170 chr6:33396158-33396171 chr6:33396158-33396171 chr6:33396154-33396176 chr6:33396158-33396171 chr6:33396159-33396170 chr6:33396160-33396170 chr6:33396158-33396171 chr6:33396161-33396171
2	EP300	chr6:33396181-33396634	K562	blood:	n/a	n/a
3	NR2F2	chr6:33395964-33397370	K562	blood:	n/a	n/a
4	MAX	chr6:33395661-33396587	SK-N-SH	brain:	n/a	chr6:33396267-33396277
5	SMC3	chr6:33396285-33396693	K562	blood:	n/a	chr6:33396528-33396535
6	CTCF	chr6:33396200-33396350	AG04450	lung:	n/a	n/a
7	MYC	chr6:33396031-33396782	MCF10A-Er-Src	breast:	n/a	chr6:33396267-33396277
8	ZNF384	chr6:33396246-33396581	K562	blood:	n/a	n/a
9	CTCF	chr6:33396168-33396814	K562	blood:	n/a	chr6:33396194-33396203
10	HEY1	chr6:33396008-33396581	K562	blood:	n/a	n/a
11	CTCF	chr6:33396206-33396329	GM12891	blood:	n/a	n/a
12	MTA3	chr6:33395965-33396888	GM12878	blood:	n/a	n/a
13	CTCF	chr6:33396260-33396410	HCM	heart:	n/a	n/a
14	CTCF	chr6:33396220-33396370	WI-38	lung:	n/a	n/a
15	REST	chr6:33396112-33396542	SK-N-SH	brain:	n/a	n/a
16	MAX	chr6:33395782-33396710	A549	lung:	n/a	chr6:33396267-33396277
17	CTCF	chr6:33396240-33396390	GM12868	blood:	n/a	n/a
18	MYC	chr6:33396059-33396591	MCF-7	breast:	n/a	chr6:33396267-33396277
19	UBTF	chr6:33396151-33396534	K562	blood:	n/a	n/a
20	MYC	chr6:33396042-33396675	K562	blood:	n/a	chr6:33396267-33396277
21	ELF1	chr6:33396146-33396630	K562	blood:	n/a	chr6:33396161-33396173
22	MYC	chr6:33396027-33396519	K562	blood:	n/a	chr6:33396267-33396277
23	CTCF	chr6:33396240-33396390	HCT-116	colon:	n/a	n/a
24	CTCF	chr6:33396201-33396661	K562	blood:	n/a	n/a
25	ARID3A	chr6:33396243-33396512	HepG2	liver:	n/a	n/a
26	MAX	chr6:33395760-33396645	K562	blood:	n/a	chr6:33396267-33396277
27	GTF2F1	chr6:33396260-33396555	K562	blood:	n/a	n/a
28	MAZ	chr6:33395287-33396706	K562	blood:	n/a	n/a
29	MYC	chr6:33395703-33396623	MCF-7	breast:	n/a	chr6:33396267-33396277
30	MYC	chr6:33395329-33396701	K562	blood:	n/a	chr6:33396267-33396277
31	ZBTB7A	chr6:33394843-33396480	ECC-1	luminal epithelium:	n/a	chr6:33395249-33395263
32	CTCF	chr6:33396222-33396336	MCF-7	breast:	n/a	n/a
33	MYC	chr6:33396138-33396374	MCF-7	breast:	n/a	chr6:33396267-33396277
34	TEAD4	chr6:33396028-33396840	K562	blood:	n/a	n/a
35	POLR2A	chr6:33396034-33396662	K562	blood:	n/a	n/a
36	MXI1	chr6:33392524-33397784	SK-N-SH	brain:	n/a	chr6:33394814-33394829 chr6:33394812-33394827 chr6:33394872-33394881 chr6:33394456-33394471
37	E2F6	chr6:33395585-33396518	K562	blood:	n/a	chr6:33396161-33396171
38	CTCF	chr6:33396280-33396430	HFF-Myc	foreskin:	n/a	n/a
39	ZMIZ1	chr6:33396127-33396550	K562	blood:	n/a	n/a
40	CHD2	chr6:33395434-33396458	GM12878	blood:	n/a	n/a
41	HCFC1	chr6:33396178-33396566	K562	blood:	n/a	n/a
42	MAX	chr6:33395252-33396740	K562	blood:	n/a	chr6:33396267-33396277
43	MYC	chr6:33396255-33396624	HepG2	liver:	n/a	chr6:33396267-33396277
44	CBX3	chr6:33395941-33396749	K562	blood:	n/a	n/a
45	CEBPB	chr6:33396136-33396771	K562	blood:	n/a	n/a
46	MAX	chr6:33395800-33396622	ECC-1	luminal epithelium:	n/a	chr6:33396267-33396277
47	MAZ	chr6:33395357-33396595	GM12878	blood:	n/a	n/a
48	CEBPB	chr6:33396198-33396451	HepG2	liver:	n/a	n/a
49	CCNT2	chr6:33395467-33396523	K562	blood:	n/a	chr6:33396120-33396129 chr6:33395849-33395858 chr6:33395859-33395868
50	MAX	chr6:33395374-33396818	HepG2	liver:	n/a	chr6:33396267-33396277

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:33396295-33396345	GM19239	blood:	n/a
2	chr6:33396295-33396345	SK-N-SH	brain:	n/a
3	chr6:33396295-33396345	HAEpiC	amniotic membrane:	n/a
4	chr6:33396295-33396345	BJ	skin:	n/a
5	chr6:33396295-33396345	Caco-2	colon:	n/a
6	chr6:33396295-33396345	HIPEpiC	eye:	n/a
7	chr6:33396295-33396345	CMK	blood:	n/a
8	chr6:33396295-33396345	HRPEpiC	eye:	n/a
9	chr6:33396295-33396345	HCPEpiC	choroid plexus:	n/a
10	chr6:33396295-33396345	LNCaP	prostate:	n/a
11	chr6:33396295-33396345	HepG2	liver:	n/a
12	chr6:33396295-33396345	Hepatocyte	liver:	n/a
13	chr6:33396295-33396345	SK-N-MC	brain:	n/a
14	chr6:33396295-33396345	GM12891	blood:	n/a
15	chr6:33396295-33396345	GM06990	blood:	n/a
16	chr6:33396295-33396345	AG09319	gingival:	n/a
17	chr6:33396295-33396345	T-47D	breast:	n/a
18	chr6:33396295-33396345	HPAEpiC	pulmonary alveolar:	n/a
19	chr6:33396295-33396345	HNPCEpiC	eye:	n/a
20	chr6:33396295-33396345	NHDF-neo	bronchial:	n/a
21	chr6:33396295-33396345	NH-A	brain:	n/a
22	chr6:33396295-33396345	MCF10A-Er-Src	breast:	n/a
23	chr6:33396295-33396345	HCM	heart:	n/a
24	chr6:33396295-33396345	HEK293	kidney:	embryo
25	chr6:33396295-33396345	NB4	blood:	n/a
26	chr6:33396295-33396345	AoSMC	blood vessel:	n/a
27	chr6:33396295-33396345	GM12878	blood:	n/a
28	chr6:33396295-33396345	NHBE	bronchial:	n/a
29	chr6:33396295-33396345	BE2_C	brain:	n/a
30	chr6:33396295-33396345	MCF-7	breast:	n/a
31	chr6:33396295-33396345	IMR90	lung:	fetal
32	chr6:33396295-33396345	GM12892	blood:	n/a
33	chr6:33396295-33396345	NT2-D1	testis:	n/a
34	chr6:33396295-33396345	A549	lung:	n/a
35	chr6:33396295-33396345	HRCEpiC	kidney:	n/a
36	chr6:33396295-33396345	AG04449	skin:	fetal
37	chr6:33396295-33396345	RPTEC	kidney:	n/a
38	chr6:33396295-33396345	HEEpiC	esophagus:	n/a
39	chr6:33396295-33396345	K562	blood:	n/a
40	chr6:33396295-33396345	PrEC	prostate:	n/a
41	chr6:33396295-33396345	Jurkat	blood:	n/a
42	chr6:33396295-33396345	HCF	heart:	n/a
43	chr6:33396295-33396345	HMEC	breast:	n/a
44	chr6:33396295-33396345	PANC-1	pancreas:	n/a
45	chr6:33396295-33396345	HCT-116	colon:	n/a
46	chr6:33396295-33396345	ovcar-3	ovarian:	n/a
47	chr6:33396295-33396345	PFSK-1	brain:	n/a
48	chr6:33396295-33396345	ProgFib	skin:	n/a
49	chr6:33396295-33396345	AG04450	lung:	fetal
50	chr6:33396295-33396345	HL-60	blood:	n/a

(count:29 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:33279489..33293095-chr6:33375317..33398824,56	K562	blood:
2	chr11:69453730..69455755-chr6:33394973..33397171,2	MCF-7	breast:
3	chr6:33263619..33269524-chr6:33392449..33400505,13	K562	blood:
4	chr6:33283041..33291527-chr6:33390658..33398493,18	K562	blood:
5	chr6:33395899..33401993-chr6:33420102..33423796,11	MCF-7	breast:
6	chr6:32937058..32938880-chr6:33394443..33397147,2	K562	blood:
7	chr6:33395465..33397605-chr6:33459172..33460866,2	K562	blood:
8	chr6:33258827..33261135-chr6:33395874..33397870,2	K562	blood:
9	chr6:33376532..33378307-chr6:33395106..33396877,2	MCF-7	breast:
10	chr6:33238168..33246812-chr6:33390354..33398427,26	K562	blood:
11	chr6:33280655..33282668-chr6:33393419..33397905,7	K562	blood:
12	chr6:33395342..33398838-chr6:33677022..33679442,4	K562	blood:
13	chr6:33392929..33396981-chr6:33537285..33540754,6	MCF-7	breast:
14	chr6:33392449..33400629-chr6:33419013..33424035,12	MCF-7	breast:
15	chr6:33395175..33398193-chr6:33670762..33673349,3	MCF-7	breast:
16	chr6:33238378..33242418-chr6:33393683..33397768,6	MCF-7	breast:
17	chr6:33237732..33247113-chr6:33390735..33401356,31	K562	blood:
18	chr6:33254824..33258515-chr6:33394130..33398725,7	K562	blood:
19	chr6:33171043..33174774-chr6:33394411..33396707,3	K562	blood:
20	chr6:33393221..33396330-chr6:33404523..33406240,3	MCF-7	breast:
21	chr6:33395740..33397757-chr6:34203838..34205956,2	K562	blood:
22	chr6:33392315..33397649-chr6:33418358..33425832,9	K562	blood:
23	chr6:33265065..33267440-chr6:33393801..33396358,3	MCF-7	breast:
24	chr6:33357853..33359874-chr6:33395413..33397642,3	K562	blood:
25	chr6:33378034..33378798-chr6:33395635..33396385,2	K562	blood:
26	chr6:33394909..33396953-chr6:33473800..33476253,2	MCF-7	breast:
27	chr6:33394932..33398976-chr6:33412593..33416199,4	MCF-7	breast:
28	chr6:33171898..33174531-chr6:33393519..33397558,3	K562	blood:
29	chr6:33263595..33269524-chr6:33390524..33397848,10	K562	blood:

No data

Variant related genes	Relation type
SYNGAP1	TF binding region
SYNGAP1	CpG island
ENSG00000237441	Chromatin interaction
ENSG00000223501	Chromatin interaction
ENSG00000223837	Chromatin interaction
ENSG00000204209	Chromatin interaction
ENSG00000112511	Chromatin interaction
ENSG00000204220	Chromatin interaction
ENSG00000137309	Chromatin interaction
ENSG00000231500	Chromatin interaction
ENSG00000264085	Chromatin interaction
ENSG00000204256	Chromatin interaction
ENSG00000237649	Chromatin interaction
ENSG00000204228	Chromatin interaction
ENSG00000213588	Chromatin interaction
ENSG00000231925	Chromatin interaction
ENSG00000227057	Chromatin interaction
ENSG00000197283	Chromatin interaction
ENSG00000235863	Chromatin interaction
ENSG00000236104	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1755040	0.88[AMR][1000 genomes]
rs1977139	0.83[AMR][1000 genomes]
rs210131	0.81[EUR][1000 genomes]
rs210153	0.81[AMR][1000 genomes]
rs210190	0.92[AMR][1000 genomes]
rs2747476	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28800551	0.92[AMR][1000 genomes]
rs3119019	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3119021	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3119022	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3119024	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3119025	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3119026	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3119027	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3130023	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3130024	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3130026	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3130032	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3130035	0.85[EUR][1000 genomes]
rs34416888	0.84[AMR][1000 genomes]
rs35432298	0.92[AMR][1000 genomes]
rs35700288	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35796955	0.92[AMR][1000 genomes]
rs35817932	0.92[AMR][1000 genomes]
rs36003672	0.92[AMR][1000 genomes]
rs406009	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs413722	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs421328	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs449978	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes]
rs4713634	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs498066	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6910721	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[TSI][hapmap]
rs7762843	0.91[CEU][hapmap];1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830635	chr6:33238005-33413787	Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
2	nsv830637	chr6:33329365-33510704	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
3	nsv885769	chr6:33377522-33412197	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	48 gene(s)	inside rSNPs	diseases
4	nsv602832	chr6:33382241-33520221	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	nsv932196	chr6:33383131-33400706	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	36 gene(s)	inside rSNPs	diseases
6	esv3329984	chr6:33392649-33396572	Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33392800-33396600	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr6:33393000-33396400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr6:33395200-33396400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr6:33395200-33396400	Active TSS	Brain Substantia Nigra	brain
5	chr6:33395200-33396600	Active TSS	Fetal Kidney	kidney
6	chr6:33395400-33396400	Active TSS	Brain Hippocampus Middle	brain
7	chr6:33395400-33396600	Active TSS	HSMMtube	muscle
8	chr6:33395400-33396800	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr6:33395600-33397600	Enhancers	Stomach Mucosa	stomach
10	chr6:33396000-33396400	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr6:33396000-33396400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr6:33396000-33396400	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr6:33396000-33396400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
14	chr6:33396000-33396400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
15	chr6:33396000-33396400	Flanking Active TSS	Placenta	Placenta
16	chr6:33396000-33396400	Flanking Active TSS	Gastric	stomach
17	chr6:33396000-33396400	Flanking Active TSS	Right Atrium	heart
18	chr6:33396000-33396400	Flanking Active TSS	Spleen	Spleen
19	chr6:33396000-33396600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
20	chr6:33396000-33396600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr6:33396000-33396600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr6:33396000-33396600	Flanking Active TSS	Primary B cells from peripheral blood	blood
23	chr6:33396000-33396600	Flanking Active TSS	Primary hematopoietic stem cells	blood
24	chr6:33396000-33396600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
25	chr6:33396000-33396600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr6:33396000-33396600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
27	chr6:33396000-33396600	Flanking Active TSS	Adipose Nuclei	Adipose
28	chr6:33396000-33396600	Flanking Active TSS	Liver	Liver
29	chr6:33396000-33396600	Flanking Active TSS	Duodenum Mucosa	Duodenum
30	chr6:33396000-33396600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
31	chr6:33396000-33396600	Flanking Active TSS	Fetal Intestine Large	intestine
32	chr6:33396000-33396600	Flanking Active TSS	Fetal Intestine Small	intestine
33	chr6:33396000-33396600	Flanking Active TSS	Fetal Muscle Trunk	muscle
34	chr6:33396000-33396600	Flanking Active TSS	Fetal Muscle Leg	muscle
35	chr6:33396000-33396600	Flanking Active TSS	Lung	lung
36	chr6:33396000-33396600	Flanking Active TSS	Pancreas	Pancrea
37	chr6:33396000-33396600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
38	chr6:33396000-33396600	Flanking Active TSS	Right Ventricle	heart
39	chr6:33396000-33396600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
40	chr6:33396000-33396600	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
41	chr6:33396000-33396600	Flanking Active TSS	HepG2	liver
42	chr6:33396000-33396600	Flanking Active TSS	HMEC	breast
43	chr6:33396000-33396600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
44	chr6:33396000-33396800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr6:33396000-33396800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
46	chr6:33396000-33396800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
47	chr6:33396000-33396800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
48	chr6:33396000-33396800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr6:33396000-33396800	Flanking Active TSS	Colonic Mucosa	Colon
50	chr6:33396000-33396800	Flanking Active TSS	Fetal Thymus	thymus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links