Variant report

Variant	rs446037
Chromosome Location	chr19:45407437-45407438
allele	A/C
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	RUNX3	chr19:45407249-45407458	GM12878	blood:	n/a	n/a
2	POLR2A	chr19:45406941-45408344	GM12878	blood:	n/a	n/a
3	POLR2A	chr19:45406899-45408444	K562	blood:	n/a	n/a
4	POLR2A	chr19:45407237-45407977	GM12878	blood:	n/a	n/a
5	FOXA1	chr19:45406948-45407931	HepG2	liver:	n/a	n/a
6	CREB1	chr19:45406921-45407448	A549	lung:	n/a	n/a
7	ZBTB7A	chr19:45406916-45407581	K562	blood:	n/a	chr19:45407037-45407046
8	ELF1	chr19:45406799-45407684	GM12878	blood:	n/a	n/a
9	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
10	CTCF	chr19:45407300-45407450	AoAF	blood vessel:	n/a	n/a
11	MAFK	chr19:45407147-45407465	H1-hESC	embryonic stem cell:	n/a	chr19:45407372-45407382
12	POLR2A	chr19:45406691-45408427	U87	brain:	n/a	n/a
13	POLR2A	chr19:45406564-45408390	GM12892	blood:	n/a	n/a
14	POLR2A	chr19:45406891-45408399	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr19:45406480-45408437	K562	blood:	n/a	n/a
16	ATF3	chr19:45406734-45408364	A549	lung:	n/a	n/a
17	SP1	chr19:45406899-45407551	HepG2	liver:	n/a	chr19:45407300-45407314 chr19:45407409-45407423 chr19:45407412-45407424 chr19:45407305-45407314
18	HEY1	chr19:45406864-45407742	HepG2	liver:	n/a	n/a
19	POLR2A	chr19:45407032-45408307	HepG2	liver:	n/a	n/a
20	NFIC	chr19:45406849-45407575	HepG2	liver:	n/a	n/a
21	POLR2A	chr19:45406913-45408343	K562	blood:	n/a	n/a
22	HNF4G	chr19:45406886-45407495	HepG2	liver:	n/a	chr19:45407243-45407258 chr19:45407245-45407257 chr19:45407194-45407209 chr19:45407243-45407258 chr19:45407243-45407258 chr19:45407191-45407213 chr19:45407243-45407258 chr19:45407243-45407258
23	FOSL2	chr19:45406736-45407447	A549	lung:	n/a	n/a
24	POLR2A	chr19:45405203-45410051	K562	blood:	n/a	n/a
25	POLR2A	chr19:45406960-45408299	GM12891	blood:	n/a	n/a
26	POLR2A	chr19:45405561-45409156	PFSK-1	brain:	n/a	n/a
27	POLR2A	chr19:45406873-45408415	U87	brain:	n/a	n/a
28	HEY1	chr19:45407080-45407561	HepG2	liver:	n/a	n/a
29	RAD21	chr19:45406742-45407454	HCT-116	colon:	n/a	chr19:45407031-45407045 chr19:45407033-45407046 chr19:45407030-45407049 chr19:45407035-45407045
30	POLR2A	chr19:45407014-45408264	PBDE	blood:	n/a	n/a
31	RAD21	chr19:45406872-45407482	HepG2	liver:	n/a	chr19:45407031-45407045 chr19:45407033-45407046 chr19:45407030-45407049 chr19:45407035-45407045
32	CTCF	chr19:45406826-45407447	H1-hESC	embryonic stem cell:	n/a	chr19:45407030-45407046 chr19:45407029-45407047 chr19:45407031-45407052 chr19:45407026-45407039 chr19:45407032-45407045
33	PML	chr19:45406818-45407485	K562	blood:	n/a	n/a
34	SIN3AK20	chr19:45406719-45407566	A549	lung:	n/a	n/a
35	POLR2A	chr19:45406788-45408320	K562	blood:	n/a	n/a
36	POLR2A	chr19:45405620-45409311	SK-N-MC	brain:	n/a	n/a
37	MAFF	chr19:45407076-45407551	HepG2	liver:	n/a	chr19:45407371-45407385 chr19:45407365-45407383
38	POLR2A	chr19:45406827-45408452	HepG2	liver:	n/a	n/a
39	SP1	chr19:45407004-45408249	A549	lung:	n/a	chr19:45407300-45407314 chr19:45407409-45407423 chr19:45407412-45407424 chr19:45407305-45407314
40	POLR2A	chr19:45405457-45408484	GM12892	blood:	n/a	n/a
41	HNF4A	chr19:45406983-45407474	HepG2	liver:	n/a	chr19:45407243-45407258 chr19:45407245-45407257 chr19:45407194-45407209 chr19:45407243-45407258 chr19:45407243-45407258 chr19:45407243-45407258 chr19:45407191-45407213 chr19:45407243-45407258 chr19:45407243-45407258
42	POLR2A	chr19:45406992-45407662	GM15510	blood:	n/a	n/a
43	POLR2A	chr19:45406924-45408372	MCF-7	breast:	n/a	n/a
44	POLR2A	chr19:45406805-45408290	HCT-116	colon:	n/a	n/a
45	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
46	PBX3	chr19:45406871-45408484	A549	lung:	n/a	n/a
47	RAD21	chr19:45406892-45407619	A549	lung:	n/a	chr19:45407031-45407045 chr19:45407033-45407046 chr19:45407030-45407049 chr19:45407552-45407562 chr19:45407035-45407045
48	POLR2A	chr19:45405893-45410103	K562	blood:	n/a	n/a
49	FOSL2	chr19:45406929-45408384	HepG2	liver:	n/a	n/a
50	POLR2A	chr19:45406752-45408450	PANC-1	pancreas:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:45406597..45407482-chr19:45454723..45455538,4	MCF-7	breast:
2	chr19:45405446..45407479-chr19:45558545..45561751,3	K562	blood:
3	chr19:45406582..45407489-chr19:45492129..45492712,2	K562	blood:
4	chr19:45406873..45407525-chr19:45492323..45493024,2	MCF-7	breast:
5	chr19:45406839..45408683-chr19:45455179..45456897,2	MCF-7	breast:
6	chr19:45406430..45407977-chr19:45445993..45448710,2	K562	blood:
7	chr19:45406430..45412448-chr19:45445993..45451546,6	K562	blood:
8	chr19:45406398..45408162-chr19:45456600..45459438,2	K562	blood:
9	chr19:45400598..45402586-chr19:45404857..45407837,2	MCF-7	breast:
10	chr19:45406575..45407498-chr19:45841582..45842395,3	K562	blood:
11	chr19:45393575..45396068-chr19:45405116..45407648,2	MCF-7	breast:
12	chr19:45406133..45407518-chr19:45454532..45455483,6	K562	blood:
13	chr19:45407367..45409189-chr19:45457819..45459866,2	K562	blood:
14	chr19:45405563..45412018-chr19:45456830..45459683,7	MCF-7	breast:
15	chr19:45396519..45400631-chr19:45405107..45409651,5	MCF-7	breast:

Variant related genes	Relation type
APOE	TF binding region
ENSG00000234906	Chromatin interaction
ENSG00000130204	Chromatin interaction
ENSG00000267282	Chromatin interaction
ENSG00000267114	Chromatin interaction
ENSG00000104853	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs157583	1.00[ASN][1000 genomes]
rs157587	1.00[ASN][1000 genomes]
rs166907	1.00[ASN][1000 genomes]
rs205909	0.89[AFR][1000 genomes]
rs394819	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs417357	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs434132	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs435380	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs439382	1.00[ASN][1000 genomes]
rs490243	1.00[AFR][1000 genomes];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:110 , 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	chr19:45396200-45407600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr19:45396600-45407600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr19:45396800-45407800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr19:45397000-45408400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr19:45397000-45408800	Weak transcription	Psoas Muscle	Psoas
7	chr19:45397600-45407800	Weak transcription	Primary B cells from cord blood	blood
8	chr19:45399600-45408200	Weak transcription	Fetal Brain Male	brain
9	chr19:45400000-45407800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr19:45400200-45407600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr19:45400400-45414200	Weak transcription	Hela-S3	cervix
12	chr19:45400600-45409000	Weak transcription	Fetal Kidney	kidney
13	chr19:45401400-45408800	Weak transcription	Right Atrium	heart
14	chr19:45403400-45407600	Strong transcription	GM12878-XiMat	blood
15	chr19:45403600-45409000	Weak transcription	HSMM	muscle
16	chr19:45404400-45408600	Weak transcription	Primary hematopoietic stem cells	blood
17	chr19:45404800-45407800	Weak transcription	Aorta	Aorta
18	chr19:45404800-45407800	Weak transcription	HUVEC	blood vessel
19	chr19:45405000-45407800	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr19:45405000-45408600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr19:45406200-45407600	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr19:45406200-45407600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr19:45406200-45407800	Weak transcription	NH-A	brain
24	chr19:45406200-45408200	Weak transcription	Small Intestine	intestine
25	chr19:45406200-45408600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr19:45406200-45408600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr19:45406200-45408800	Weak transcription	Left Ventricle	heart
28	chr19:45406200-45408800	Weak transcription	NHEK	skin
29	chr19:45406200-45409200	Weak transcription	HSMMtube	muscle
30	chr19:45406400-45408000	Weak transcription	Fetal Thymus	thymus
31	chr19:45406400-45408200	Weak transcription	Primary T cells from cord blood	blood
32	chr19:45406400-45408600	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr19:45406400-45408600	Weak transcription	Fetal Lung	lung
34	chr19:45406400-45408600	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr19:45406400-45408800	Weak transcription	HMEC	breast
36	chr19:45406400-45409000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr19:45406600-45407600	Weak transcription	Brain Germinal Matrix	brain
38	chr19:45406600-45407600	Genic enhancers	Right Ventricle	heart
39	chr19:45406600-45407800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr19:45406600-45408000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr19:45406600-45408000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr19:45406600-45408000	Weak transcription	Fetal Brain Female	brain
43	chr19:45406600-45408400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr19:45406600-45408600	Flanking Active TSS	HepG2	liver
45	chr19:45406800-45407600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr19:45406800-45407800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr19:45406800-45407800	Weak transcription	Thymus	Thymus
48	chr19:45406800-45408000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr19:45406800-45408600	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr19:45406800-45409200	Weak transcription	Gastric	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links