Variant report

Variant	rs62112772
Chromosome Location	chr19:35745088-35745089
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	EP300	chr19:35744633-35745095	HepG2	liver:	n/a	n/a
2	SP1	chr19:35744571-35745172	HepG2	liver:	n/a	n/a
3	FOXA2	chr19:35744409-35745171	HepG2	liver:	n/a	n/a
4	POLR2A	chr19:35744154-35745180	H1-hESC	embryonic stem cell:	n/a	n/a
5	EP300	chr19:35744638-35745102	HepG2	liver:	n/a	n/a
6	FOXA1	chr19:35744523-35745181	HepG2	liver:	n/a	n/a
7	NFIC	chr19:35744618-35745106	HepG2	liver:	n/a	n/a
8	MYBL2	chr19:35744439-35745097	HepG2	liver:	n/a	n/a
9	POLR2A	chr19:35745024-35745236	HepG2	liver:	n/a	n/a
10	POLR2A	chr19:35744185-35745156	H1-hESC	embryonic stem cell:	n/a	n/a
11	MBD4	chr19:35744631-35745117	HepG2	liver:	n/a	n/a
12	FOXA1	chr19:35744591-35745156	HepG2	liver:	n/a	n/a
13	CEBPB	chr19:35744979-35745146	HepG2	liver:	n/a	chr19:35745052-35745063
14	SP1	chr19:35744648-35745117	H1-hESC	embryonic stem cell:	n/a	n/a
15	FOXA1	chr19:35744552-35745154	HepG2	liver:	n/a	n/a
16	CEBPB	chr19:35744925-35745126	HepG2	liver:	n/a	chr19:35745052-35745063
17	CEBPB	chr19:35744848-35745118	H1-hESC	embryonic stem cell:	n/a	chr19:35745052-35745063
18	EP300	chr19:35744693-35745171	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:35604465..35607274-chr19:35744430..35746368,2	MCF-7	breast:
2	chr19:35729081..35731637-chr19:35744746..35747518,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000271366	TF binding region
ENSG00000089356	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10405246	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10410675	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10414846	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10419261	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10419959	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10421096	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10421504	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10421599	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10421768	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10424619	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1051995	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1052033	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12973672	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12974791	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12975284	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12979058	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12979792	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12981527	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12984022	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12985618	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12986033	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13345192	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2073899	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2280744	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2280745	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2280747	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28365133	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28365136	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34832786	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35250673	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35497966	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35959789	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs564117	0.81[EUR][1000 genomes]
rs62109572	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71352913	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7256866	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8101606	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv1060100	chr19:35658505-36170042	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv543993	chr19:35658505-36170042	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
4	nsv1066553	chr19:35698638-35749563	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
5	nsv510765	chr19:35708226-35890668	Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
6	esv2758497	chr19:35711078-35887113	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
7	esv2758758	chr19:35711078-35887113	Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
8	nsv978896	chr19:35724047-35748472	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
9	nsv911618	chr19:35734107-35807845	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
10	esv1836312	chr19:35741456-35786868	Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:35740600-35745200	Weak transcription	Right Atrium	heart
2	chr19:35740600-35748000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr19:35740600-35748200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr19:35740800-35747000	Weak transcription	Small Intestine	intestine
5	chr19:35740800-35747400	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr19:35741000-35746000	Weak transcription	Fetal Heart	heart
7	chr19:35741000-35747400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr19:35741000-35748000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr19:35741000-35748200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr19:35741200-35745400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr19:35741200-35758000	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr19:35741400-35745400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr19:35741400-35748200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr19:35741400-35757800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr19:35741600-35747000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr19:35741600-35747000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr19:35741600-35747800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr19:35741600-35748200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr19:35741800-35745200	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr19:35741800-35746800	Genic enhancers	Liver	Liver
21	chr19:35742000-35756200	Strong transcription	NHEK	skin
22	chr19:35742400-35746000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr19:35742600-35745200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr19:35742600-35748000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr19:35742600-35755200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr19:35742800-35746200	Strong transcription	Fetal Intestine Small	intestine
27	chr19:35742800-35747400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr19:35743200-35745400	Weak transcription	HMEC	breast
29	chr19:35743200-35750600	Weak transcription	K562	blood
30	chr19:35743400-35746000	Weak transcription	Gastric	stomach
31	chr19:35743400-35746800	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr19:35743600-35745400	Genic enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr19:35743800-35745600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr19:35743800-35756600	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr19:35744000-35746600	Strong transcription	Rectal Mucosa Donor 31	rectum
36	chr19:35744200-35745600	Genic enhancers	HUES6 Cell Line	embryonic stem cell
37	chr19:35744200-35745600	Strong transcription	Sigmoid Colon	Sigmoid Colon
38	chr19:35744200-35745800	Genic enhancers	Spleen	Spleen
39	chr19:35744200-35746200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr19:35744400-35745600	Genic enhancers	GM12878-XiMat	blood
41	chr19:35744400-35746000	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr19:35744400-35746000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr19:35744400-35746200	Strong transcription	Duodenum Mucosa	Duodenum
44	chr19:35744400-35746200	Strong transcription	Esophagus	oesophagus
45	chr19:35744400-35746400	Strong transcription	Fetal Stomach	stomach
46	chr19:35744400-35746600	Strong transcription	Placenta Amnion	Placenta Amnion
47	chr19:35744400-35746600	Strong transcription	Hela-S3	cervix
48	chr19:35744400-35746800	Enhancers	Stomach Mucosa	stomach
49	chr19:35744400-35757600	Strong transcription	Fetal Intestine Large	intestine
50	chr19:35744600-35745400	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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