Variant report

Variant	rs60328056
Chromosome Location	chr19:38717179-38717180
allele	-/ACACACACACACAC
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	RAD21	chr19:38716792-38717291	A549	lung:	n/a	chr19:38717025-38717044 chr19:38717030-38717040 chr19:38717028-38717041
2	ZMIZ1	chr19:38716929-38717203	K562	blood:	n/a	n/a
3	YY1	chr19:38716881-38717213	GM12878	blood:	n/a	chr19:38717068-38717080
4	CTCF	chr19:38716753-38717281	MCF-7	breast:	n/a	chr19:38717027-38717036 chr19:38717029-38717039 chr19:38717024-38717042 chr19:38717027-38717040 chr19:38717026-38717047 chr19:38717180-38717188 chr19:38717025-38717041 chr19:38717027-38717040
5	TCF12	chr19:38716891-38717277	A549	lung:	n/a	n/a
6	RAD21	chr19:38716880-38717211	IMR90	lung:	n/a	chr19:38717025-38717044 chr19:38717030-38717040 chr19:38717028-38717041
7	CTCF	chr19:38716884-38717187	GM19240	blood:	n/a	chr19:38717027-38717036 chr19:38717029-38717039 chr19:38717024-38717042 chr19:38717027-38717040 chr19:38717026-38717047 chr19:38717025-38717041 chr19:38717027-38717040
8	POLR2A	chr19:38716498-38717217	K562	blood:	n/a	n/a
9	CTCF	chr19:38716907-38717186	SK-N-SH_RA	brain:	n/a	chr19:38717027-38717036 chr19:38717029-38717039 chr19:38717024-38717042 chr19:38717027-38717040 chr19:38717026-38717047 chr19:38717025-38717041 chr19:38717027-38717040
10	CTCF	chr19:38716901-38717196	GM19239	blood:	n/a	chr19:38717027-38717036 chr19:38717029-38717039 chr19:38717024-38717042 chr19:38717027-38717040 chr19:38717026-38717047 chr19:38717180-38717188 chr19:38717025-38717041 chr19:38717027-38717040
11	GTF2B	chr19:38717040-38717202	K562	blood:	n/a	n/a
12	RCOR1	chr19:38716876-38717355	K562	blood:	n/a	n/a
13	CTCF	chr19:38716663-38717425	GM12892	blood:	n/a	chr19:38717027-38717036 chr19:38717029-38717039 chr19:38717024-38717042 chr19:38717027-38717040 chr19:38717026-38717047 chr19:38717180-38717188 chr19:38717025-38717041 chr19:38717027-38717040
14	MAX	chr19:38716914-38717197	K562	blood:	n/a	n/a
15	SIN3AK20	chr19:38716933-38717471	A549	lung:	n/a	n/a
16	RUNX3	chr19:38716891-38717219	GM12878	blood:	n/a	n/a
17	CTCF	chr19:38716655-38717300	IMR90	lung:	n/a	chr19:38717027-38717036 chr19:38717029-38717039 chr19:38717024-38717042 chr19:38717027-38717040 chr19:38717026-38717047 chr19:38717180-38717188 chr19:38717025-38717041 chr19:38717027-38717040
18	BCL3	chr19:38716873-38717411	A549	lung:	n/a	n/a
19	SIN3AK20	chr19:38716946-38717188	A549	lung:	n/a	n/a
20	MAX	chr19:38716970-38717194	NB4	blood:	n/a	n/a
21	CTCF	chr19:38716900-38717191	K562	blood:	n/a	chr19:38717027-38717036 chr19:38717029-38717039 chr19:38717024-38717042 chr19:38717027-38717040 chr19:38717026-38717047 chr19:38717180-38717188 chr19:38717025-38717041 chr19:38717027-38717040
22	SP1	chr19:38716864-38717289	H1-hESC	embryonic stem cell:	n/a	chr19:38717004-38717014 chr19:38717004-38717014
23	ZNF143	chr19:38716885-38717209	K562	blood:	n/a	n/a
24	TCF12	chr19:38716904-38717631	A549	lung:	n/a	n/a
25	ZNF143	chr19:38716863-38717209	GM12878	blood:	n/a	n/a
26	CTCF	chr19:38716920-38717218	A549	lung:	n/a	chr19:38717027-38717036 chr19:38717029-38717039 chr19:38717024-38717042 chr19:38717027-38717040 chr19:38717026-38717047 chr19:38717180-38717188 chr19:38717025-38717041 chr19:38717027-38717040
27	CTCF	chr19:38716906-38717183	GM12878	blood:	n/a	chr19:38717027-38717036 chr19:38717029-38717039 chr19:38717024-38717042 chr19:38717027-38717040 chr19:38717026-38717047 chr19:38717025-38717041 chr19:38717027-38717040
28	POLR2A	chr19:38717169-38717196	K562	blood:	n/a	n/a
29	CTCF	chr19:38716917-38717241	HepG2	liver:	n/a	chr19:38717027-38717036 chr19:38717029-38717039 chr19:38717024-38717042 chr19:38717027-38717040 chr19:38717026-38717047 chr19:38717180-38717188 chr19:38717025-38717041 chr19:38717027-38717040
30	CTCF	chr19:38716833-38717252	K562	blood:	n/a	chr19:38717027-38717036 chr19:38717029-38717039 chr19:38717024-38717042 chr19:38717027-38717040 chr19:38717026-38717047 chr19:38717180-38717188 chr19:38717025-38717041 chr19:38717027-38717040
31	CTCF	chr19:38716642-38717199	GM12891	blood:	n/a	chr19:38717027-38717036 chr19:38717029-38717039 chr19:38717024-38717042 chr19:38717027-38717040 chr19:38717026-38717047 chr19:38717180-38717188 chr19:38717025-38717041 chr19:38717027-38717040
32	RAD21	chr19:38716941-38717193	HepG2	liver:	n/a	chr19:38717025-38717044 chr19:38717030-38717040 chr19:38717028-38717041
33	YY1	chr19:38716924-38717218	GM12878	blood:	n/a	chr19:38717068-38717080
34	RAD21	chr19:38716913-38717198	A549	lung:	n/a	chr19:38717025-38717044 chr19:38717030-38717040 chr19:38717028-38717041
35	CTCF	chr19:38716543-38717543	SK-N-SH	brain:	n/a	chr19:38717027-38717036 chr19:38717029-38717039 chr19:38717024-38717042 chr19:38717027-38717040 chr19:38717026-38717047 chr19:38717180-38717188 chr19:38717025-38717041 chr19:38717027-38717040
36	RAD21	chr19:38716882-38717181	SK-N-SH_RA	brain:	n/a	chr19:38717025-38717044 chr19:38717030-38717040 chr19:38717028-38717041
37	CREB1	chr19:38716925-38717246	A549	lung:	n/a	n/a
38	CTCF	chr19:38716879-38717194	NHEK	skin:	n/a	chr19:38717027-38717036 chr19:38717029-38717039 chr19:38717024-38717042 chr19:38717027-38717040 chr19:38717026-38717047 chr19:38717180-38717188 chr19:38717025-38717041 chr19:38717027-38717040
39	SMC3	chr19:38716898-38717201	GM12878	blood:	n/a	chr19:38717026-38717040 chr19:38717030-38717040
40	CTCF	chr19:38716903-38717238	H1-hESC	embryonic stem cell:	n/a	chr19:38717027-38717036 chr19:38717029-38717039 chr19:38717024-38717042 chr19:38717027-38717040 chr19:38717026-38717047 chr19:38717180-38717188 chr19:38717025-38717041 chr19:38717027-38717040
41	CTCF	chr19:38716905-38717328	K562	blood:	n/a	chr19:38717027-38717036 chr19:38717029-38717039 chr19:38717024-38717042 chr19:38717027-38717040 chr19:38717026-38717047 chr19:38717180-38717188 chr19:38717025-38717041 chr19:38717027-38717040
42	MAZ	chr19:38716925-38717215	K562	blood:	n/a	n/a
43	MAX	chr19:38716965-38717448	K562	blood:	n/a	n/a
44	RAD21	chr19:38716922-38717231	H1-hESC	embryonic stem cell:	n/a	chr19:38717025-38717044 chr19:38717030-38717040 chr19:38717028-38717041
45	POLR2A	chr19:38716495-38717226	K562	blood:	n/a	n/a
46	HEY1	chr19:38716550-38717242	K562	blood:	n/a	n/a
47	SMC3	chr19:38716868-38717497	SK-N-SH	brain:	n/a	chr19:38717026-38717040 chr19:38717030-38717040
48	ZNF143	chr19:38716853-38717201	H1-hESC	embryonic stem cell:	n/a	n/a
49	JUND	chr19:38716913-38717184	K562	blood:	n/a	n/a
50	CTCF	chr19:38716772-38717277	A549	lung:	n/a	chr19:38717027-38717036 chr19:38717029-38717039 chr19:38717024-38717042 chr19:38717027-38717040 chr19:38717026-38717047 chr19:38717180-38717188 chr19:38717025-38717041 chr19:38717027-38717040

No.	Distal block	Cell Line	Cell type
1	chr19:38717093..38718677-chr19:38724126..38726976,2	K562	blood:
2	chr19:38716611..38717479-chr19:38825815..38826777,3	K562	blood:
3	chr19:38717014..38717887-chr19:38825862..38826722,3	MCF-7	breast:
4	chr19:38715204..38718579-chr19:38826351..38828588,3	K562	blood:
5	chr19:38713729..38715323-chr19:38716058..38719030,2	K562	blood:
6	chr19:38715242..38718088-chr19:38941035..38943575,2	K562	blood:
7	chr19:38716917..38718796-chr19:38722935..38725683,2	MCF-7	breast:
8	chr19:38651241..38653210-chr19:38716095..38718461,3	K562	blood:
9	chr19:38715608..38719883-chr19:38825304..38828918,6	K562	blood:
10	chr19:38651349..38653210-chr19:38716095..38718461,2	K562	blood:

Variant related genes	Relation type
DPF1	TF binding region
ENSG00000099338	Chromatin interaction
ENSG00000011332	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs2384781	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs7253360	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7253473	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7256364	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8101485	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8108197	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8109991	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949296	chr19:38034722-38763140	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv833821	chr19:38629937-38756792	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv911657	chr19:38655449-38753786	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38715200-38718200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr19:38715200-38719000	Weak transcription	Right Atrium	heart
3	chr19:38715200-38719200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr19:38715200-38719200	Weak transcription	Pancreas	Pancrea
5	chr19:38715400-38717200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr19:38715400-38717200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr19:38715400-38717200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr19:38715400-38717200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr19:38715400-38717200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr19:38715400-38717200	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr19:38715400-38718200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr19:38715400-38718200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr19:38715400-38718400	Weak transcription	Brain Angular Gyrus	brain
14	chr19:38715400-38718400	Weak transcription	Fetal Heart	heart
15	chr19:38715400-38718600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr19:38715400-38719000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr19:38715400-38719200	Weak transcription	NH-A	brain
18	chr19:38715400-38719200	Weak transcription	NHDF-Ad	bronchial
19	chr19:38715600-38718000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr19:38715600-38718000	Weak transcription	NHEK	skin
21	chr19:38715600-38719400	Weak transcription	Brain Anterior Caudate	brain
22	chr19:38715600-38719600	Weak transcription	Hela-S3	cervix
23	chr19:38716000-38717600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
24	chr19:38716600-38717200	Active TSS	Brain Germinal Matrix	brain
25	chr19:38716600-38717400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr19:38716600-38718000	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr19:38716600-38718000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr19:38716600-38718400	Enhancers	H1 Cell Line	embryonic stem cell
29	chr19:38716600-38718600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr19:38716600-38719200	Enhancers	A549	lung
31	chr19:38716600-38720800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
32	chr19:38716800-38718600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr19:38716800-38719200	Enhancers	Fetal Brain Male	brain
34	chr19:38717000-38717200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
35	chr19:38717000-38717200	Active TSS	iPS-20b Cell Line	embryonic stem cell
36	chr19:38717000-38717200	Bivalent Enhancer	HepG2	liver
37	chr19:38717000-38717200	Active TSS	K562	blood
38	chr19:38717000-38717400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr19:38717000-38717400	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr19:38717000-38717400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
41	chr19:38717000-38717400	Enhancers	Brain Cingulate Gyrus	brain
42	chr19:38717000-38717400	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr19:38717000-38717400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
44	chr19:38717000-38717400	Bivalent Enhancer	Stomach Mucosa	stomach
45	chr19:38717000-38718000	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr19:38717000-38718800	Flanking Active TSS	Fetal Brain Female	brain

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