Variant report

Variant	rs434132
Chromosome Location	chr19:45407720-45407721
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	chr19:45406941-45408344	GM12878	blood:	n/a	n/a
2	POLR2A	chr19:45406899-45408444	K562	blood:	n/a	n/a
3	POLR2A	chr19:45407237-45407977	GM12878	blood:	n/a	n/a
4	FOXA1	chr19:45406948-45407931	HepG2	liver:	n/a	n/a
5	RAD21	chr19:45406697-45408353	SK-N-SH	brain:	n/a	chr19:45407031-45407045 chr19:45407033-45407046 chr19:45407030-45407049 chr19:45407552-45407562 chr19:45407035-45407045
6	POLR2A	chr19:45406691-45408427	U87	brain:	n/a	n/a
7	POLR2A	chr19:45406564-45408390	GM12892	blood:	n/a	n/a
8	POLR2A	chr19:45406891-45408399	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr19:45406480-45408437	K562	blood:	n/a	n/a
10	ATF3	chr19:45406734-45408364	A549	lung:	n/a	n/a
11	HEY1	chr19:45406864-45407742	HepG2	liver:	n/a	n/a
12	POLR2A	chr19:45407032-45408307	HepG2	liver:	n/a	n/a
13	POLR2A	chr19:45406913-45408343	K562	blood:	n/a	n/a
14	POLR2A	chr19:45405203-45410051	K562	blood:	n/a	n/a
15	POLR2A	chr19:45406960-45408299	GM12891	blood:	n/a	n/a
16	TEAD4	chr19:45407476-45408392	K562	blood:	n/a	n/a
17	POLR2A	chr19:45405561-45409156	PFSK-1	brain:	n/a	n/a
18	POLR2A	chr19:45406873-45408415	U87	brain:	n/a	n/a
19	POLR2A	chr19:45407014-45408264	PBDE	blood:	n/a	n/a
20	POLR2A	chr19:45406788-45408320	K562	blood:	n/a	n/a
21	POLR2A	chr19:45405620-45409311	SK-N-MC	brain:	n/a	n/a
22	POLR2A	chr19:45406827-45408452	HepG2	liver:	n/a	n/a
23	SP1	chr19:45407004-45408249	A549	lung:	n/a	chr19:45407300-45407314 chr19:45407409-45407423 chr19:45407412-45407424 chr19:45407305-45407314
24	POLR2A	chr19:45405457-45408484	GM12892	blood:	n/a	n/a
25	POLR2A	chr19:45406924-45408372	MCF-7	breast:	n/a	n/a
26	POLR2A	chr19:45406805-45408290	HCT-116	colon:	n/a	n/a
27	CTCF	chr19:45406716-45407798	SK-N-SH	brain:	n/a	chr19:45407030-45407046 chr19:45407029-45407047 chr19:45407031-45407052 chr19:45407026-45407039 chr19:45407032-45407045
28	PBX3	chr19:45406871-45408484	A549	lung:	n/a	n/a
29	POLR2A	chr19:45405893-45410103	K562	blood:	n/a	n/a
30	FOSL2	chr19:45406929-45408384	HepG2	liver:	n/a	n/a
31	POLR2A	chr19:45406752-45408450	PANC-1	pancreas:	n/a	n/a
32	ELF1	chr19:45407339-45407724	GM12878	blood:	n/a	n/a
33	TCF12	chr19:45407410-45408246	A549	lung:	n/a	n/a
34	POLR2A	chr19:45406979-45408409	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr19:45406477-45408463	GM12892	blood:	n/a	n/a
36	REST	chr19:45406916-45408375	A549	lung:	n/a	chr19:45407312-45407325 chr19:45407856-45407863 chr19:45407312-45407325 chr19:45407308-45407318
37	POLR2A	chr19:45406796-45408473	HUVEC	blood vessel:	n/a	n/a
38	GATA3	chr19:45406793-45408435	A549	lung:	n/a	n/a
39	MYBL2	chr19:45406880-45408226	HepG2	liver:	n/a	n/a
40	MBD4	chr19:45406828-45408432	HepG2	liver:	n/a	n/a
41	ATF2	chr19:45407616-45408400	H1-hESC	embryonic stem cell:	n/a	n/a
42	NFATC1	chr19:45406916-45408421	GM12878	blood:	n/a	n/a
43	TEAD4	chr19:45406794-45408373	HepG2	liver:	n/a	n/a
44	POLR2A	chr19:45406504-45408412	GM12878	blood:	n/a	n/a
45	PBX3	chr19:45406875-45408419	A549	lung:	n/a	n/a
46	POLR2A	chr19:45406590-45408154	GM12878	blood:	n/a	n/a
47	PBX3	chr19:45406875-45408445	SK-N-SH	brain:	n/a	n/a
48	RUNX3	chr19:45407577-45408340	GM12878	blood:	n/a	n/a
49	MTA3	chr19:45406910-45408444	GM12878	blood:	n/a	n/a
50	POLR2A	chr19:45405435-45408468	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:45406839..45408683-chr19:45455179..45456897,2	MCF-7	breast:
2	chr19:45406430..45407977-chr19:45445993..45448710,2	K562	blood:
3	chr19:45406430..45412448-chr19:45445993..45451546,6	K562	blood:
4	chr19:45407631..45409490-chr19:45429198..45431974,3	K562	blood:
5	chr19:45406398..45408162-chr19:45456600..45459438,2	K562	blood:
6	chr19:45400598..45402586-chr19:45404857..45407837,2	MCF-7	breast:
7	chr19:45407631..45409490-chr19:45429549..45431974,2	K562	blood:
8	chr19:45407367..45409189-chr19:45457819..45459866,2	K562	blood:
9	chr19:45405563..45412018-chr19:45456830..45459683,7	MCF-7	breast:
10	chr19:45396519..45400631-chr19:45405107..45409651,5	MCF-7	breast:

Variant related genes	Relation type
APOE	TF binding region
ENSG00000267114	Chromatin interaction
ENSG00000234906	Chromatin interaction
ENSG00000214855	Chromatin interaction
ENSG00000130204	Chromatin interaction
ENSG00000104853	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs157583	1.00[ASN][1000 genomes]
rs157587	1.00[ASN][1000 genomes]
rs166907	1.00[ASN][1000 genomes]
rs394819	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs417357	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs435380	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs439382	1.00[ASN][1000 genomes]
rs446037	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs490243	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs491153	1.00[AMR][1000 genomes];1.00[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	nsv912129	chr19:45379791-45448465	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv912130	chr19:45382034-45448465	Bivalent Enhancer Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv912131	chr19:45391582-45415640	Flanking Active TSS Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv912132	chr19:45393473-45415640	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv912133	chr19:45395619-45482884	Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer 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	23 gene(s)	inside rSNPs	diseases
6	nsv912134	chr19:45395619-45528799	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:45396000-45408600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr19:45396800-45407800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
3	chr19:45397000-45408400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr19:45397000-45408800	Weak transcription	Psoas Muscle	Psoas
5	chr19:45397600-45407800	Weak transcription	Primary B cells from cord blood	blood
6	chr19:45399600-45408200	Weak transcription	Fetal Brain Male	brain
7	chr19:45400000-45407800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr19:45400400-45414200	Weak transcription	Hela-S3	cervix
9	chr19:45400600-45409000	Weak transcription	Fetal Kidney	kidney
10	chr19:45401400-45408800	Weak transcription	Right Atrium	heart
11	chr19:45403600-45409000	Weak transcription	HSMM	muscle
12	chr19:45404400-45408600	Weak transcription	Primary hematopoietic stem cells	blood
13	chr19:45404800-45407800	Weak transcription	Aorta	Aorta
14	chr19:45404800-45407800	Weak transcription	HUVEC	blood vessel
15	chr19:45405000-45407800	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr19:45405000-45408600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr19:45406200-45407800	Weak transcription	NH-A	brain
18	chr19:45406200-45408200	Weak transcription	Small Intestine	intestine
19	chr19:45406200-45408600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr19:45406200-45408600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr19:45406200-45408800	Weak transcription	Left Ventricle	heart
22	chr19:45406200-45408800	Weak transcription	NHEK	skin
23	chr19:45406200-45409200	Weak transcription	HSMMtube	muscle
24	chr19:45406400-45408000	Weak transcription	Fetal Thymus	thymus
25	chr19:45406400-45408200	Weak transcription	Primary T cells from cord blood	blood
26	chr19:45406400-45408600	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr19:45406400-45408600	Weak transcription	Fetal Lung	lung
28	chr19:45406400-45408600	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr19:45406400-45408800	Weak transcription	HMEC	breast
30	chr19:45406400-45409000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr19:45406600-45407800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr19:45406600-45408000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr19:45406600-45408000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr19:45406600-45408000	Weak transcription	Fetal Brain Female	brain
35	chr19:45406600-45408400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr19:45406600-45408600	Flanking Active TSS	HepG2	liver
37	chr19:45406800-45407800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr19:45406800-45407800	Weak transcription	Thymus	Thymus
39	chr19:45406800-45408000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr19:45406800-45408600	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr19:45406800-45409200	Weak transcription	Gastric	stomach
42	chr19:45406800-45409600	Weak transcription	Dnd41	blood
43	chr19:45406800-45414200	Weak transcription	Lung	lung
44	chr19:45407000-45407800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr19:45407000-45407800	Enhancers	Brain Hippocampus Middle	brain
46	chr19:45407000-45407800	Enhancers	Fetal Muscle Leg	muscle
47	chr19:45407000-45407800	Enhancers	Placenta	Placenta
48	chr19:45407000-45408000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr19:45407000-45408000	Enhancers	Brain Anterior Caudate	brain
50	chr19:45407000-45408000	Enhancers	Duodenum Mucosa	Duodenum

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