Variant report

Variant	rs435380
Chromosome Location	chr19:45407118-45407119
allele	C/T
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	chr19:45406980-45407130	HVMF	connective:	n/a	chr19:45407030-45407046 chr19:45407029-45407047 chr19:45407031-45407052 chr19:45407026-45407039 chr19:45407032-45407045
2	CTCF	chr19:45407000-45407150	HCT-116	colon:	n/a	chr19:45407030-45407046 chr19:45407029-45407047 chr19:45407031-45407052 chr19:45407026-45407039 chr19:45407032-45407045
3	POLR2A	chr19:45406941-45408344	GM12878	blood:	n/a	n/a
4	POLR2A	chr19:45406899-45408444	K562	blood:	n/a	n/a
5	FOXA1	chr19:45406948-45407931	HepG2	liver:	n/a	n/a
6	SP4	chr19:45406843-45407387	H1-hESC	embryonic stem cell:	n/a	n/a
7	CREB1	chr19:45406921-45407448	A549	lung:	n/a	n/a
8	ZBTB7A	chr19:45406916-45407581	K562	blood:	n/a	chr19:45407037-45407046
9	ELF1	chr19:45406799-45407684	GM12878	blood:	n/a	n/a
10	CTCF	chr19:45407000-45407150	HMEC	breast:	n/a	chr19:45407030-45407046 chr19:45407029-45407047 chr19:45407031-45407052 chr19:45407026-45407039 chr19:45407032-45407045
11	MAX	chr19:45406951-45407176	NB4	blood:	n/a	n/a
12	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
13	CTCF	chr19:45406928-45407193	HepG2	liver:	n/a	chr19:45407030-45407046 chr19:45407029-45407047 chr19:45407031-45407052 chr19:45407026-45407039 chr19:45407032-45407045
14	POLR2A	chr19:45406691-45408427	U87	brain:	n/a	n/a
15	FOSL2	chr19:45406879-45407294	A549	lung:	n/a	n/a
16	POLR2A	chr19:45406564-45408390	GM12892	blood:	n/a	n/a
17	ZNF143	chr19:45406880-45407208	K562	blood:	n/a	n/a
18	POLR2A	chr19:45406891-45408399	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr19:45406480-45408437	K562	blood:	n/a	n/a
20	ATF3	chr19:45406734-45408364	A549	lung:	n/a	n/a
21	MAX	chr19:45407048-45407171	Hela-S3	cervix:	n/a	n/a
22	SP1	chr19:45406899-45407551	HepG2	liver:	n/a	chr19:45407300-45407314 chr19:45407409-45407423 chr19:45407412-45407424 chr19:45407305-45407314
23	POLR2A	chr19:45407027-45407349	GM12878	blood:	n/a	n/a
24	HEY1	chr19:45406864-45407742	HepG2	liver:	n/a	n/a
25	POLR2A	chr19:45407032-45408307	HepG2	liver:	n/a	n/a
26	NFIC	chr19:45406849-45407575	HepG2	liver:	n/a	n/a
27	USF2	chr19:45406944-45407284	H1-hESC	embryonic stem cell:	n/a	chr19:45407022-45407038
28	POLR2A	chr19:45406913-45408343	K562	blood:	n/a	n/a
29	JUND	chr19:45406951-45407347	K562	blood:	n/a	n/a
30	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
31	ZBTB7A	chr19:45406967-45407405	HepG2	liver:	n/a	chr19:45407037-45407046
32	FOSL2	chr19:45406736-45407447	A549	lung:	n/a	n/a
33	NFIC	chr19:45406836-45407127	GM12878	blood:	n/a	n/a
34	POLR2A	chr19:45405203-45410051	K562	blood:	n/a	n/a
35	POLR2A	chr19:45406960-45408299	GM12891	blood:	n/a	n/a
36	SMC3	chr19:45406874-45407219	Hela-S3	cervix:	n/a	chr19:45407031-45407045 chr19:45407035-45407045
37	RAD21	chr19:45406896-45407202	Hela-S3	cervix:	n/a	chr19:45407031-45407045 chr19:45407033-45407046 chr19:45407030-45407049 chr19:45407035-45407045
38	GTF2F1	chr19:45406970-45407188	K562	blood:	n/a	n/a
39	CTCF	chr19:45406892-45407203	SK-N-SH_RA	brain:	n/a	chr19:45407030-45407046 chr19:45407029-45407047 chr19:45407031-45407052 chr19:45407026-45407039 chr19:45407032-45407045
40	POLR2A	chr19:45405561-45409156	PFSK-1	brain:	n/a	n/a
41	POLR2A	chr19:45406873-45408415	U87	brain:	n/a	n/a
42	CEBPB	chr19:45406895-45407269	K562	blood:	n/a	n/a
43	YY1	chr19:45406887-45407210	A549	lung:	n/a	n/a
44	CTCF	chr19:45406908-45407179	H1-hESC	embryonic stem cell:	n/a	chr19:45407030-45407046 chr19:45407029-45407047 chr19:45407031-45407052 chr19:45407026-45407039 chr19:45407032-45407045
45	CTCF	chr19:45406980-45407130	GM12871	blood:	n/a	chr19:45407030-45407046 chr19:45407029-45407047 chr19:45407031-45407052 chr19:45407026-45407039 chr19:45407032-45407045
46	HEY1	chr19:45407080-45407561	HepG2	liver:	n/a	n/a
47	RAD21	chr19:45406742-45407454	HCT-116	colon:	n/a	chr19:45407031-45407045 chr19:45407033-45407046 chr19:45407030-45407049 chr19:45407035-45407045
48	POLR2A	chr19:45407014-45408264	PBDE	blood:	n/a	n/a
49	CTCF	chr19:45406862-45407216	Spleen_OC	spleen:	n/a	chr19:45407030-45407046 chr19:45407029-45407047 chr19:45407031-45407052 chr19:45407026-45407039 chr19:45407032-45407045
50	CTCF	chr19:45406980-45407130	GM12866	blood:	n/a	chr19:45407030-45407046 chr19:45407029-45407047 chr19:45407031-45407052 chr19:45407026-45407039 chr19:45407032-45407045

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	chr19:45404737..45407317-chr19:45408582..45411169,3	MCF-7	breast:
10	chr19:45406329..45407317-chr19:45454544..45455390,2	MCF-7	breast:
11	chr19:45400598..45402586-chr19:45404857..45407837,2	MCF-7	breast:
12	chr19:45406575..45407498-chr19:45841582..45842395,3	K562	blood:
13	chr19:45393575..45396068-chr19:45405116..45407648,2	MCF-7	breast:
14	chr19:45406133..45407518-chr19:45454532..45455483,6	K562	blood:
15	chr19:45405563..45412018-chr19:45456830..45459683,7	MCF-7	breast:
16	chr19:45396519..45400631-chr19:45405107..45409651,5	MCF-7	breast:

Variant related genes	Relation type
APOE	TF binding region
ENSG00000267282	Chromatin interaction
ENSG00000130203	Chromatin interaction
ENSG00000267114	Chromatin interaction
ENSG00000234906	Chromatin interaction
ENSG00000130204	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]
rs439382	1.00[ASN][1000 genomes]
rs446037	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:45395800-45407200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr19:45396000-45408600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr19:45396200-45407600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr19:45396600-45407600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr19:45396800-45407800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr19:45397000-45408400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr19:45397000-45408800	Weak transcription	Psoas Muscle	Psoas
8	chr19:45397600-45407800	Weak transcription	Primary B cells from cord blood	blood
9	chr19:45398200-45407200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr19:45399600-45408200	Weak transcription	Fetal Brain Male	brain
11	chr19:45399800-45407200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr19:45400000-45407800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr19:45400200-45407600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr19:45400400-45414200	Weak transcription	Hela-S3	cervix
15	chr19:45400600-45409000	Weak transcription	Fetal Kidney	kidney
16	chr19:45401400-45408800	Weak transcription	Right Atrium	heart
17	chr19:45403400-45407600	Strong transcription	GM12878-XiMat	blood
18	chr19:45403600-45407200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr19:45403600-45407200	Weak transcription	NHDF-Ad	bronchial
20	chr19:45403600-45409000	Weak transcription	HSMM	muscle
21	chr19:45404000-45407200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr19:45404400-45408600	Weak transcription	Primary hematopoietic stem cells	blood
23	chr19:45404600-45407200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr19:45404800-45407200	Weak transcription	Colonic Mucosa	Colon
25	chr19:45404800-45407800	Weak transcription	Aorta	Aorta
26	chr19:45404800-45407800	Weak transcription	HUVEC	blood vessel
27	chr19:45405000-45407800	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr19:45405000-45408600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr19:45405600-45407200	Strong transcription	NHLF	lung
30	chr19:45405600-45407200	Weak transcription	Osteobl	bone
31	chr19:45405800-45407200	Genic enhancers	A549	lung
32	chr19:45406200-45407200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr19:45406200-45407200	Weak transcription	Rectal Smooth Muscle	rectum
34	chr19:45406200-45407600	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr19:45406200-45407600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr19:45406200-45407800	Weak transcription	NH-A	brain
37	chr19:45406200-45408200	Weak transcription	Small Intestine	intestine
38	chr19:45406200-45408600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr19:45406200-45408600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr19:45406200-45408800	Weak transcription	Left Ventricle	heart
41	chr19:45406200-45408800	Weak transcription	NHEK	skin
42	chr19:45406200-45409200	Weak transcription	HSMMtube	muscle
43	chr19:45406400-45407200	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr19:45406400-45407200	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr19:45406400-45407200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr19:45406400-45407200	Weak transcription	Colon Smooth Muscle	Colon
47	chr19:45406400-45407200	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr19:45406400-45408000	Weak transcription	Fetal Thymus	thymus
49	chr19:45406400-45408200	Weak transcription	Primary T cells from cord blood	blood
50	chr19:45406400-45408600	Weak transcription	H9 Cell Line	embryonic stem cell

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