Variant report

Variant	rs1106606
Chromosome Location	chr6:33396096-33396097
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:85)
CpG islands
(count:61)
Chromatin interactive
region (count:34)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:85 , 50 per page) page: 1 2

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	NR2F2	chr6:33395964-33397370	K562	blood:	n/a	n/a
3	MAX	chr6:33395661-33396587	SK-N-SH	brain:	n/a	chr6:33396267-33396277
4	MYC	chr6:33396031-33396782	MCF10A-Er-Src	breast:	n/a	chr6:33396267-33396277
5	HEY1	chr6:33396008-33396581	K562	blood:	n/a	n/a
6	MTA3	chr6:33395965-33396888	GM12878	blood:	n/a	n/a
7	ZBTB7A	chr6:33396064-33396201	HepG2	liver:	n/a	n/a
8	MAX	chr6:33395782-33396710	A549	lung:	n/a	chr6:33396267-33396277
9	MYC	chr6:33396059-33396591	MCF-7	breast:	n/a	chr6:33396267-33396277
10	ZBTB7A	chr6:33394801-33396233	K562	blood:	n/a	chr6:33395249-33395263
11	MYC	chr6:33396042-33396675	K562	blood:	n/a	chr6:33396267-33396277
12	MYC	chr6:33396027-33396519	K562	blood:	n/a	chr6:33396267-33396277
13	MAX	chr6:33395760-33396645	K562	blood:	n/a	chr6:33396267-33396277
14	EGR1	chr6:33395688-33396298	ECC-1	luminal epithelium:	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
15	MAZ	chr6:33395287-33396706	K562	blood:	n/a	n/a
16	MYC	chr6:33395703-33396623	MCF-7	breast:	n/a	chr6:33396267-33396277
17	MYC	chr6:33395329-33396701	K562	blood:	n/a	chr6:33396267-33396277
18	ZBTB7A	chr6:33394843-33396480	ECC-1	luminal epithelium:	n/a	chr6:33395249-33395263
19	TEAD4	chr6:33396028-33396840	K562	blood:	n/a	n/a
20	POLR2A	chr6:33396034-33396662	K562	blood:	n/a	n/a
21	MXI1	chr6:33392524-33397784	SK-N-SH	brain:	n/a	chr6:33394814-33394829 chr6:33394812-33394827 chr6:33394872-33394881 chr6:33394456-33394471
22	E2F6	chr6:33395585-33396518	K562	blood:	n/a	chr6:33396161-33396171
23	TCF12	chr6:33395585-33396204	ECC-1	luminal epithelium:	n/a	n/a
24	CHD2	chr6:33395434-33396458	GM12878	blood:	n/a	n/a
25	MAX	chr6:33395252-33396740	K562	blood:	n/a	chr6:33396267-33396277
26	CBX3	chr6:33395941-33396749	K562	blood:	n/a	n/a
27	MAX	chr6:33395800-33396622	ECC-1	luminal epithelium:	n/a	chr6:33396267-33396277
28	MAZ	chr6:33395357-33396595	GM12878	blood:	n/a	n/a
29	YY1	chr6:33395275-33396103	K562	blood:	n/a	n/a
30	CCNT2	chr6:33395467-33396523	K562	blood:	n/a	chr6:33396120-33396129 chr6:33395849-33395858 chr6:33395859-33395868
31	MAX	chr6:33395374-33396818	HepG2	liver:	n/a	chr6:33396267-33396277
32	RUNX3	chr6:33395719-33396636	GM12878	blood:	n/a	n/a
33	EGR1	chr6:33395776-33396130	GM12878	blood:	n/a	n/a
34	POLR2A	chr6:33395962-33396709	HL-60	blood:	n/a	n/a
35	MAZ	chr6:33395109-33397100	IMR90	lung:	n/a	n/a
36	MAX	chr6:33395999-33396601	K562	blood:	n/a	chr6:33396267-33396277
37	E2F6	chr6:33395428-33396660	K562	blood:	n/a	chr6:33396161-33396171
38	MAX	chr6:33395742-33396652	ECC-1	luminal epithelium:	n/a	chr6:33396267-33396277
39	POLR2A	chr6:33396013-33396340	MCF-7	breast:	n/a	n/a
40	ZBTB7A	chr6:33394969-33396487	K562	blood:	n/a	chr6:33395249-33395263
41	MYC	chr6:33395961-33396679	NB4	blood:	n/a	chr6:33396267-33396277
42	ELF1	chr6:33395634-33396481	K562	blood:	n/a	chr6:33395847-33395859 chr6:33396161-33396173
43	POLR2A	chr6:33394784-33396710	Raji	blood:	n/a	n/a
44	CTCF	chr6:33396060-33396210	WERI-Rb-1	eye:	n/a	chr6:33396157-33396170 chr6:33396194-33396203
45	CTCF	chr6:33396040-33396190	BJ	skin:	n/a	chr6:33396157-33396170
46	RUNX3	chr6:33395947-33396267	GM12878	blood:	n/a	n/a
47	E2F4	chr6:33395546-33396520	K562	blood:	n/a	chr6:33396161-33396171
48	MAX	chr6:33395978-33396732	HepG2	liver:	n/a	chr6:33396267-33396277
49	SIN3AK20	chr6:33395992-33396626	K562	blood:	n/a	n/a
50	MAX	chr6:33395988-33396592	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	chr6:33396096-33396146	Jurkat	blood:	n/a
2	chr6:33396096-33396146	IMR90	lung:	fetal
3	chr6:33396096-33396146	AoSMC	blood vessel:	n/a
4	chr6:33396096-33396146	HRPEpiC	eye:	n/a
5	chr6:33396096-33396146	K562	blood:	n/a
6	chr6:33396096-33396146	HAEpiC	amniotic membrane:	n/a
7	chr6:33396096-33396146	AG04449	skin:	fetal
8	chr6:33396096-33396146	HRE	kidney:	n/a
9	chr6:33396096-33396146	Hepatocyte	liver:	n/a
10	chr6:33396096-33396146	NHBE	bronchial:	n/a
11	chr6:33396096-33396146	ProgFib	skin:	n/a
12	chr6:33396096-33396146	GM12892	blood:	n/a
13	chr6:33396096-33396146	GM19239	blood:	n/a
14	chr6:33396096-33396146	Caco-2	colon:	n/a
15	chr6:33396096-33396146	NHDF-neo	bronchial:	n/a
16	chr6:33396096-33396146	HPAEpiC	pulmonary alveolar:	n/a
17	chr6:33396096-33396146	PrEC	prostate:	n/a
18	chr6:33396096-33396146	Hela-S3	cervix:	n/a
19	chr6:33396096-33396146	AG10803	skin:	n/a
20	chr6:33396096-33396146	AG04450	lung:	fetal
21	chr6:33396096-33396146	HIPEpiC	eye:	n/a
22	chr6:33396096-33396146	AG09309	skin:	n/a
23	chr6:33396096-33396146	HEEpiC	esophagus:	n/a
24	chr6:33396096-33396146	NH-A	brain:	n/a
25	chr6:33396096-33396146	RPTEC	kidney:	n/a
26	chr6:33396096-33396146	HNPCEpiC	eye:	n/a
27	chr6:33396096-33396146	MCF-7	breast:	n/a
28	chr6:33396096-33396146	BJ	skin:	n/a
29	chr6:33396096-33396146	HCF	heart:	n/a
30	chr6:33396096-33396146	HUVEC	blood vessel:	n/a
31	chr6:33396096-33396146	HCT-116	colon:	n/a
32	chr6:33396096-33396146	PANC-1	pancreas:	n/a
33	chr6:33396096-33396146	AG09319	gingival:	n/a
34	chr6:33396096-33396146	HepG2	liver:	n/a
35	chr6:33396096-33396146	HEK293	kidney:	embryo
36	chr6:33396096-33396146	HL-60	blood:	n/a
37	chr6:33396096-33396146	HMEC	breast:	n/a
38	chr6:33396096-33396146	GM06990	blood:	n/a
39	chr6:33396096-33396146	NT2-D1	testis:	n/a
40	chr6:33396096-33396146	HRCEpiC	kidney:	n/a
41	chr6:33396096-33396146	H1-hESC	embryonic stem cell:	embryo
42	chr6:33396096-33396146	PFSK-1	brain:	n/a
43	chr6:33396096-33396146	SK-N-SH	brain:	n/a
44	chr6:33396096-33396146	SKMC	muscle:	n/a
45	chr6:33396096-33396146	ECC-1	luminal epithelium:	n/a
46	chr6:33396096-33396146	HCM	heart:	n/a
47	chr6:33396096-33396146	SAEC	small airway:	n/a
48	chr6:33396096-33396146	BE2_C	brain:	n/a
49	chr6:33396096-33396146	LNCaP	prostate:	n/a
50	chr6:33396096-33396146	NB4	blood:	n/a

(count:34 , 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	chr6:32939106..32941739-chr6:33393311..33396155,4	K562	blood:
10	chr6:33376532..33378307-chr6:33395106..33396877,2	MCF-7	breast:
11	chr6:33247920..33248672-chr6:33395406..33396274,2	K562	blood:
12	chr6:33238168..33246812-chr6:33390354..33398427,26	K562	blood:
13	chr6:33280655..33282668-chr6:33393419..33397905,7	K562	blood:
14	chr6:33395342..33398838-chr6:33677022..33679442,4	K562	blood:
15	chr6:33392929..33396981-chr6:33537285..33540754,6	MCF-7	breast:
16	chr6:33392449..33400629-chr6:33419013..33424035,12	MCF-7	breast:
17	chr6:33395175..33398193-chr6:33670762..33673349,3	MCF-7	breast:
18	chr6:33238378..33242418-chr6:33393683..33397768,6	MCF-7	breast:
19	chr6:33237732..33247113-chr6:33390735..33401356,31	K562	blood:
20	chr6:33356676..33362230-chr6:33391756..33396223,11	K562	blood:
21	chr6:33254824..33258515-chr6:33394130..33398725,7	K562	blood:
22	chr6:33213767..33216511-chr6:33394618..33396286,2	K562	blood:
23	chr6:33171043..33174774-chr6:33394411..33396707,3	K562	blood:
24	chr6:33393221..33396330-chr6:33404523..33406240,3	MCF-7	breast:
25	chr6:33393869..33396201-chr6:33479107..33481448,2	MCF-7	breast:
26	chr6:33395740..33397757-chr6:34203838..34205956,2	K562	blood:
27	chr6:33392315..33397649-chr6:33418358..33425832,9	K562	blood:
28	chr6:33265065..33267440-chr6:33393801..33396358,3	MCF-7	breast:
29	chr6:33357853..33359874-chr6:33395413..33397642,3	K562	blood:
30	chr6:33378034..33378798-chr6:33395635..33396385,2	K562	blood:
31	chr6:33394909..33396953-chr6:33473800..33476253,2	MCF-7	breast:
32	chr6:33394932..33398976-chr6:33412593..33416199,4	MCF-7	breast:
33	chr6:33171898..33174531-chr6:33393519..33397558,3	K562	blood:
34	chr6:33263595..33269524-chr6:33390524..33397848,10	K562	blood:

No data

Variant related genes	Relation type
SYNGAP1	TF binding region
SYNGAP1	CpG island
ENSG00000237649	Chromatin interaction
ENSG00000204256	Chromatin interaction
ENSG00000235863	Chromatin interaction
ENSG00000227057	Chromatin interaction
ENSG00000231925	Chromatin interaction
ENSG00000263756	Chromatin interaction
ENSG00000204209	Chromatin interaction
ENSG00000213588	Chromatin interaction
ENSG00000264085	Chromatin interaction
ENSG00000225644	Chromatin interaction
ENSG00000223837	Chromatin interaction
ENSG00000204228	Chromatin interaction
ENSG00000137309	Chromatin interaction
ENSG00000223501	Chromatin interaction
ENSG00000197283	Chromatin interaction
ENSG00000237441	Chromatin interaction
ENSG00000272217	Chromatin interaction
ENSG00000231500	Chromatin interaction
ENSG00000112511	Chromatin interaction
ENSG00000236104	Chromatin interaction
ENSG00000204220	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11751696	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11753355	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11756267	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11756767	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2235982	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41267647	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41271245	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4231	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55699469	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7752202	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9277997	0.85[EUR][1000 genomes]
rs9278001	0.86[EUR][1000 genomes]
rs9278005	0.89[EUR][1000 genomes]
rs9278006	0.89[EUR][1000 genomes]
rs9278007	0.89[EUR][1000 genomes]
rs9278015	0.89[EUR][1000 genomes]
rs9278016	0.89[EUR][1000 genomes]
rs9278019	0.89[EUR][1000 genomes]
rs9278027	0.87[EUR][1000 genomes]
rs9278028	0.90[EUR][1000 genomes]
rs9278034	0.90[EUR][1000 genomes]
rs9278036	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9278038	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9278039	0.80[EUR][1000 genomes]
rs9278040	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9278043	0.95[EUR][1000 genomes]
rs9278044	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9278045	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9278046	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9278049	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]

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	chr6:33392800-33396200	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr6:33392800-33396600	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr6:33393000-33396400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr6:33393200-33396200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr6:33393400-33396200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr6:33395200-33396200	Active TSS	H9 Cell Line	embryonic stem cell
7	chr6:33395200-33396200	Active TSS	Aorta	Aorta
8	chr6:33395200-33396200	Active TSS	Ovary	ovary
9	chr6:33395200-33396400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr6:33395200-33396400	Active TSS	Brain Substantia Nigra	brain
11	chr6:33395200-33396600	Active TSS	Fetal Kidney	kidney
12	chr6:33395400-33396200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:33395400-33396200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr6:33395400-33396200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr6:33395400-33396200	Active TSS	HUES64 Cell Line	embryonic stem cell
16	chr6:33395400-33396200	Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr6:33395400-33396200	Active TSS	iPS-18 Cell Line	embryonic stem cell
18	chr6:33395400-33396200	Active TSS	iPS-20b Cell Line	embryonic stem cell
19	chr6:33395400-33396200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr6:33395400-33396200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr6:33395400-33396200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr6:33395400-33396200	Active TSS	Primary T cells from cord blood	blood
23	chr6:33395400-33396200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
24	chr6:33395400-33396200	Active TSS	Primary T helper naive cells from peripheral blood	blood
25	chr6:33395400-33396200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr6:33395400-33396200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr6:33395400-33396200	Active TSS	Brain Angular Gyrus	brain
28	chr6:33395400-33396200	Active TSS	Brain Anterior Caudate	brain
29	chr6:33395400-33396200	Active TSS	Brain Inferior Temporal Lobe	brain
30	chr6:33395400-33396200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr6:33395400-33396200	Active TSS	Colon Smooth Muscle	Colon
32	chr6:33395400-33396200	Active TSS	Duodenum Smooth Muscle	Duodenum
33	chr6:33395400-33396200	Active TSS	Fetal Brain Female	brain
34	chr6:33395400-33396200	Active TSS	Fetal Lung	lung
35	chr6:33395400-33396200	Active TSS	Fetal Stomach	stomach
36	chr6:33395400-33396200	Active TSS	Left Ventricle	heart
37	chr6:33395400-33396200	Active TSS	Psoas Muscle	Psoas
38	chr6:33395400-33396200	Active TSS	Rectal Smooth Muscle	rectum
39	chr6:33395400-33396200	Active TSS	Sigmoid Colon	Sigmoid Colon
40	chr6:33395400-33396200	Active TSS	Small Intestine	intestine
41	chr6:33395400-33396200	Active TSS	A549	lung
42	chr6:33395400-33396200	Active TSS	Hela-S3	cervix
43	chr6:33395400-33396200	Active TSS	NHDF-Ad	bronchial
44	chr6:33395400-33396200	Active TSS	NHEK	skin
45	chr6:33395400-33396400	Active TSS	Brain Hippocampus Middle	brain
46	chr6:33395400-33396600	Active TSS	HSMMtube	muscle
47	chr6:33395400-33396800	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr6:33395600-33396200	Active TSS	HUES48 Cell Line	embryonic stem cell
49	chr6:33395600-33396200	Active TSS	Breast Myoepithelial Primary Cells	Breast
50	chr6:33395600-33396200	Active TSS	Primary B cells from cord blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links