Variant report

Variant	rs2733747
Chromosome Location	chr19:35746072-35746073
allele	C/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	POLR2A	chr19:35745924-35746129	HepG2	liver:	n/a	n/a
2	POLR2A	chr19:35745759-35746126	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr19:35746055-35746236	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr19:35745800-35746165	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr19:35745916-35746249	K562	blood:	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: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs2073898	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs528717	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs531922	0.89[EUR][1000 genomes]
rs534127	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs557867	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs559702	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs7249832	0.97[EUR][1000 genomes]
rs8107529	0.97[EUR][1000 genomes]
rs916145	0.91[CEU][hapmap]

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:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:35740600-35748000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr19:35740600-35748200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr19:35740800-35747000	Weak transcription	Small Intestine	intestine
4	chr19:35740800-35747400	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr19:35741000-35747400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr19:35741000-35748000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr19:35741000-35748200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr19:35741200-35758000	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr19:35741400-35748200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr19:35741400-35757800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr19:35741600-35747000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr19:35741600-35747000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr19:35741600-35747800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr19:35741600-35748200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr19:35741800-35746800	Genic enhancers	Liver	Liver
16	chr19:35742000-35756200	Strong transcription	NHEK	skin
17	chr19:35742600-35748000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr19:35742600-35755200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr19:35742800-35746200	Strong transcription	Fetal Intestine Small	intestine
20	chr19:35742800-35747400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr19:35743200-35750600	Weak transcription	K562	blood
22	chr19:35743400-35746800	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr19:35743800-35756600	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr19:35744000-35746600	Strong transcription	Rectal Mucosa Donor 31	rectum
25	chr19:35744200-35746200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr19:35744400-35746200	Strong transcription	Duodenum Mucosa	Duodenum
27	chr19:35744400-35746200	Strong transcription	Esophagus	oesophagus
28	chr19:35744400-35746400	Strong transcription	Fetal Stomach	stomach
29	chr19:35744400-35746600	Strong transcription	Placenta Amnion	Placenta Amnion
30	chr19:35744400-35746600	Strong transcription	Hela-S3	cervix
31	chr19:35744400-35746800	Enhancers	Stomach Mucosa	stomach
32	chr19:35744400-35757600	Strong transcription	Fetal Intestine Large	intestine
33	chr19:35744600-35746200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr19:35744600-35746400	Enhancers	Left Ventricle	heart
35	chr19:35744600-35752400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr19:35744600-35752600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr19:35744800-35746800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr19:35744800-35746800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr19:35744800-35746800	Strong transcription	Primary B cells from peripheral blood	blood
40	chr19:35744800-35748200	Weak transcription	Placenta	Placenta
41	chr19:35744800-35750200	Weak transcription	Colonic Mucosa	Colon
42	chr19:35744800-35757600	Strong transcription	H1 Cell Line	embryonic stem cell
43	chr19:35744800-35757600	Strong transcription	HUES48 Cell Line	embryonic stem cell
44	chr19:35744800-35757800	Strong transcription	H9 Cell Line	embryonic stem cell
45	chr19:35744800-35758000	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr19:35745000-35757800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
47	chr19:35745200-35746200	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr19:35745200-35746200	Enhancers	Right Atrium	heart
49	chr19:35745200-35746400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
50	chr19:35745200-35746400	Genic enhancers	HepG2	liver

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