Variant report

Variant	rs45502100
Chromosome Location	chr6:71666810-71666811
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr6:71666780-71666930	HBMEC	blood vessel:	n/a	n/a
2	MAX	chr6:71665007-71667309	H1-hESC	embryonic stem cell:	n/a	chr6:71666796-71666806
3	REST	chr6:71665188-71667576	H1-neurons	neurons:	n/a	chr6:71666201-71666210 chr6:71666241-71666259 chr6:71665355-71665368 chr6:71666194-71666207 chr6:71666243-71666256 chr6:71666190-71666210 chr6:71665351-71665371 chr6:71666197-71666210 chr6:71666240-71666260 chr6:71666240-71666260 chr6:71666240-71666249 chr6:71665351-71665371
4	CTCF	chr6:71666700-71666850	SK-N-SH_RA	brain:	n/a	n/a
5	POLR2A	chr6:71666579-71667396	H1-neurons	neurons:	n/a	n/a
6	BACH1	chr6:71666632-71667239	H1-hESC	embryonic stem cell:	n/a	n/a
7	MAX	chr6:71666800-71667317	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr6:71666800-71666950	HAc	cerebellar:	n/a	n/a
9	ZNF263	chr6:71665325-71667404	HEK293-T-REx	kidney:	n/a	n/a
10	SIN3A	chr6:71666765-71667253	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr6:71666805-71666919	H1-hESC	embryonic stem cell:	n/a	n/a
12	E2F6	chr6:71664812-71667330	H1-hESC	embryonic stem cell:	n/a	chr6:71666209-71666219 chr6:71666385-71666397 chr6:71666798-71666807 chr6:71666450-71666457 chr6:71666445-71666452 chr6:71666445-71666452 chr6:71665499-71665511 chr6:71666445-71666452 chr6:71666414-71666423 chr6:71666889-71666898
13	RAD21	chr6:71666698-71667208	H1-hESC	embryonic stem cell:	n/a	chr6:71666998-71667011
14	CTCF	chr6:71666780-71666930	HEK293	kidney:	n/a	n/a
15	CTCF	chr6:71666740-71666890	WERI-Rb-1	eye:	n/a	n/a
16	E2F6	chr6:71665007-71666821	H1-hESC	embryonic stem cell:	n/a	chr6:71666209-71666219 chr6:71666385-71666397 chr6:71666798-71666807 chr6:71666450-71666457 chr6:71666445-71666452 chr6:71666445-71666452 chr6:71665499-71665511 chr6:71666445-71666452 chr6:71666414-71666423
17	RAD21	chr6:71666582-71666993	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr6:71666680-71666921	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr6:71666800-71666950	SK-N-SH_RA	brain:	n/a	n/a
20	CTCF	chr6:71665160-71667037	SK-N-SH	brain:	n/a	chr6:71665187-71665195
21	POLR2A	chr6:71666556-71667375	H1-neurons	neurons:	n/a	n/a
22	CTCF	chr6:71666700-71666850	HUVEC	blood vessel:	n/a	n/a
23	CTBP2	chr6:71665240-71667308	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:71666809-71666859	RPTEC	kidney:	n/a
2	chr6:71666809-71666859	HMEC	breast:	n/a
3	chr6:71666809-71666859	HCM	heart:	n/a
4	chr6:71666809-71666859	MCF-7	breast:	n/a
5	chr6:71666803-71666853	HMEC	breast:	n/a
6	chr6:71666809-71666859	IMR90	lung:	fetal
7	chr6:71666803-71666853	AG09309	skin:	n/a
8	chr6:71666803-71666853	SAEC	small airway:	n/a
9	chr6:71666803-71666853	AG04449	skin:	fetal
10	chr6:71666809-71666859	HNPCEpiC	eye:	n/a
11	chr6:71666803-71666853	BJ	skin:	n/a
12	chr6:71666803-71666853	PFSK-1	brain:	n/a
13	chr6:71666803-71666853	CMK	blood:	n/a
14	chr6:71666803-71666853	SK-N-MC	brain:	n/a
15	chr6:71666809-71666859	NH-A	brain:	n/a
16	chr6:71666803-71666853	Jurkat	blood:	n/a
17	chr6:71666809-71666859	AG09319	gingival:	n/a
18	chr6:71666803-71666853	HepG2	liver:	n/a
19	chr6:71666809-71666859	PrEC	prostate:	n/a
20	chr6:71666809-71666859	HUVEC	blood vessel:	n/a
21	chr6:71666809-71666859	Hepatocyte	liver:	n/a
22	chr6:71666803-71666853	SKMC	muscle:	n/a
23	chr6:71666809-71666859	AoSMC	blood vessel:	n/a
24	chr6:71666809-71666859	HEEpiC	esophagus:	n/a
25	chr6:71666803-71666853	MCF10A-Er-Src	breast:	n/a
26	chr6:71666809-71666859	HRPEpiC	eye:	n/a
27	chr6:71666809-71666859	Jurkat	blood:	n/a
28	chr6:71666803-71666853	U87	brain:	n/a
29	chr6:71666803-71666853	IMR90	lung:	fetal
30	chr6:71666803-71666853	PANC-1	pancreas:	n/a
31	chr6:71666809-71666859	HRCEpiC	kidney:	n/a
32	chr6:71666803-71666853	ovcar-3	ovarian:	n/a
33	chr6:71666803-71666853	Hela-S3	cervix:	n/a
34	chr6:71666809-71666859	HEK293	kidney:	embryo
35	chr6:71666803-71666853	HRE	kidney:	n/a
36	chr6:71666803-71666853	AoSMC	blood vessel:	n/a
37	chr6:71666803-71666853	GM12878	blood:	n/a
38	chr6:71666803-71666853	LNCaP	prostate:	n/a
39	chr6:71666809-71666859	T-47D	breast:	n/a
40	chr6:71666809-71666859	HepG2	liver:	n/a
41	chr6:71666809-71666859	U87	brain:	n/a
42	chr6:71666803-71666853	SK-N-SH	brain:	n/a
43	chr6:71666803-71666853	HRCEpiC	kidney:	n/a
44	chr6:71666803-71666853	HCPEpiC	choroid plexus:	n/a
45	chr6:71666803-71666853	HUVEC	blood vessel:	n/a
46	chr6:71666803-71666853	H1-hESC	embryonic stem cell:	embryo
47	chr6:71666803-71666853	AG09319	gingival:	n/a
48	chr6:71666809-71666859	AG09309	skin:	n/a
49	chr6:71666809-71666859	ProgFib	skin:	n/a
50	chr6:71666809-71666859	HCT-116	colon:	n/a

Variant related genes	Relation type
B3GAT2	TF binding region
B3GAT2	CpG island

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs17708000	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv886148	chr6:71623253-71694742	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	esv3339485	chr6:71665256-71667804	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:71663600-71667000	Active TSS	Brain Cingulate Gyrus	brain
2	chr6:71663800-71667200	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr6:71663800-71667600	Active TSS	Brain Anterior Caudate	brain
4	chr6:71664200-71667600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr6:71664600-71667000	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
6	chr6:71664600-71667400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
7	chr6:71664800-71667200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
8	chr6:71664800-71667400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
9	chr6:71664800-71667400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
10	chr6:71664800-71667800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr6:71665000-71667000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
12	chr6:71665000-71667000	Active TSS	Fetal Brain Female	brain
13	chr6:71665000-71667400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr6:71665000-71667600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
15	chr6:71665000-71667600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
16	chr6:71665200-71667000	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
17	chr6:71665200-71667000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr6:71665200-71667000	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
19	chr6:71665200-71667000	Flanking Bivalent TSS/Enh	Placenta Amnion	Placenta Amnion
20	chr6:71665200-71667200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr6:71665200-71667200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr6:71665200-71667200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr6:71665200-71667200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr6:71665200-71667200	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
25	chr6:71665200-71667200	Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr6:71665200-71667200	Flanking Active TSS	Pancreas	Pancrea
27	chr6:71665200-71667200	Bivalent/Poised TSS	HSMM	muscle
28	chr6:71665200-71667400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr6:71665200-71667400	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr6:71665200-71667400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr6:71665200-71667400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr6:71665200-71667400	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
33	chr6:71665200-71667400	Active TSS	Brain Angular Gyrus	brain
34	chr6:71665200-71667400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
35	chr6:71665400-71667000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr6:71665400-71667000	Active TSS	Breast Myoepithelial Primary Cells	Breast
37	chr6:71665400-71667000	Active TSS	Aorta	Aorta
38	chr6:71665400-71667000	Active TSS	Brain Substantia Nigra	brain
39	chr6:71665400-71667000	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
40	chr6:71665400-71667000	Active TSS	Fetal Kidney	kidney
41	chr6:71665400-71667000	Flanking Active TSS	Lung	lung
42	chr6:71665400-71667200	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
43	chr6:71665400-71667200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr6:71665400-71667200	Bivalent/Poised TSS	HSMMtube	muscle
45	chr6:71665400-71667200	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
46	chr6:71665400-71667400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr6:71665400-71667400	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr6:71665400-71667400	Bivalent/Poised TSS	NHLF	lung
49	chr6:71665600-71667000	Flanking Active TSS	Liver	Liver
50	chr6:71665600-71667000	Bivalent/Poised TSS	Fetal Lung	lung

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