Variant report

Variant	rs560635232
Chromosome Location	chr19:41882603-41882604
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	CEBPD	chr19:41882216-41882794	HepG2	liver:	n/a	n/a
2	POLR2A	chr19:41882388-41882687	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr19:41882038-41882694	HUVEC	blood vessel:	n/a	n/a
4	STAT5A	chr19:41882351-41882750	GM12878	blood:	n/a	chr19:41882394-41882402 chr19:41882375-41882387
5	POLR2A	chr19:41881952-41883286	SK-N-MC	brain:	n/a	n/a
6	POLR2A	chr19:41882301-41882922	SK-N-SH	brain:	n/a	n/a
7	POLR2A	chr19:41882039-41882625	PANC-1	pancreas:	n/a	n/a
8	POLR2A	chr19:41882078-41882891	SK-N-MC	brain:	n/a	n/a
9	ZBTB33	chr19:41882131-41882661	A549	lung:	n/a	n/a
10	POLR2A	chr19:41882182-41883533	A549	lung:	n/a	n/a
11	BCL3	chr19:41881874-41883724	A549	lung:	n/a	chr19:41882570-41882579
12	POLR2A	chr19:41882176-41883384	K562	blood:	n/a	n/a
13	ZBTB7A	chr19:41882533-41882871	HepG2	liver:	n/a	chr19:41882679-41882686
14	TCF12	chr19:41882120-41882643	A549	lung:	n/a	n/a
15	NR3C1	chr19:41881954-41882619	A549	lung:	n/a	n/a
16	PBX3	chr19:41882144-41883695	A549	lung:	n/a	n/a
17	JUND	chr19:41882287-41883067	A549	lung:	n/a	chr19:41882757-41882765 chr19:41882380-41882389
18	ELF1	chr19:41882308-41882824	GM12878	blood:	n/a	n/a
19	NR3C1	chr19:41882025-41882910	A549	lung:	n/a	n/a
20	CEBPB	chr19:41882100-41882753	H1-hESC	embryonic stem cell:	n/a	n/a
21	EGR1	chr19:41882495-41882765	K562	blood:	n/a	chr19:41882611-41882625
22	CREB1	chr19:41882272-41883236	A549	lung:	n/a	n/a
23	ZBTB7A	chr19:41882333-41882734	HepG2	liver:	n/a	chr19:41882679-41882686
24	POLR2A	chr19:41882383-41882649	HUVEC	blood vessel:	n/a	n/a
25	POLR2A	chr19:41882293-41883272	HL-60	blood:	n/a	n/a
26	POLR2A	chr19:41882304-41882627	ECC-1	luminal epithelium:	n/a	n/a
27	MTA3	chr19:41882030-41883338	GM12878	blood:	n/a	n/a
28	EGR1	chr19:41882385-41882859	H1-hESC	embryonic stem cell:	n/a	chr19:41882611-41882625
29	POLR2A	chr19:41882183-41882865	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr19:41882141-41883069	GM12878	blood:	n/a	n/a
31	EGR1	chr19:41882495-41882719	GM12878	blood:	n/a	chr19:41882611-41882625
32	POLR2A	chr19:41881878-41883460	HepG2	liver:	n/a	n/a
33	POLR2A	chr19:41882389-41882864	A549	lung:	n/a	n/a
34	POLR2A	chr19:41882367-41882715	HUVEC	blood vessel:	n/a	n/a
35	POLR2A	chr19:41882151-41882735	HUVEC	blood vessel:	n/a	n/a
36	TCF12	chr19:41881959-41883493	A549	lung:	n/a	n/a
37	HEY1	chr19:41882258-41882806	HepG2	liver:	n/a	n/a
38	POLR2A	chr19:41882091-41882872	HepG2	liver:	n/a	n/a
39	FOSL2	chr19:41882043-41882969	HepG2	liver:	n/a	chr19:41882757-41882765 chr19:41882380-41882389
40	SIN3A	chr19:41882178-41882919	H1-hESC	embryonic stem cell:	n/a	n/a
41	HNF4A	chr19:41882260-41882852	HepG2	liver:	n/a	n/a
42	POLR2A	chr19:41882313-41882874	A549	lung:	n/a	n/a
43	CEBPB	chr19:41882070-41882645	MCF-7	breast:	n/a	n/a
44	ZBTB7A	chr19:41882372-41882929	ECC-1	luminal epithelium:	n/a	chr19:41882679-41882686
45	POLR2A	chr19:41882150-41883300	MCF10A-Er-Src	breast:	n/a	n/a
46	TBP	chr19:41882351-41882682	H1-hESC	embryonic stem cell:	n/a	n/a
47	BCL3	chr19:41881822-41883679	A549	lung:	n/a	chr19:41882570-41882579
48	POLR2A	chr19:41882308-41883189	A549	lung:	n/a	n/a
49	SP1	chr19:41882396-41882871	H1-hESC	embryonic stem cell:	n/a	chr19:41882611-41882622 chr19:41882600-41882611
50	CEBPB	chr19:41882016-41882792	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:41880830..41883046-chr19:41887103..41889706,2	MCF-7	breast:
2	chr19:41882074..41885616-chr19:41888544..41893640,5	K562	blood:
3	chr19:41869853..41871782-chr19:41881681..41884054,2	K562	blood:

Variant related genes	Relation type
BCKDHA	TF binding region
TMEM91	TF binding region
ENSG00000255730	TF binding region
ENSG00000123810	Chromatin interaction
ENSG00000142046	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521311	chr19:41856886-41882712	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
2	esv996035	chr19:41881445-41887549	Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41871200-41884000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr19:41871200-41888600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr19:41871400-41888400	Weak transcription	Dnd41	blood
4	chr19:41875400-41882800	Weak transcription	K562	blood
5	chr19:41875400-41883000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr19:41880400-41894000	Weak transcription	HSMMtube	muscle
7	chr19:41881400-41883000	Flanking Active TSS	Placenta	Placenta
8	chr19:41881800-41883200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr19:41881800-41883400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr19:41882000-41882800	Active TSS	H1 Cell Line	embryonic stem cell
11	chr19:41882000-41882800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr19:41882000-41882800	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr19:41882000-41882800	Active TSS	HUES64 Cell Line	embryonic stem cell
14	chr19:41882000-41882800	Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr19:41882000-41882800	Flanking Active TSS	Primary B cells from peripheral blood	blood
16	chr19:41882000-41882800	Active TSS	Fetal Intestine Small	intestine
17	chr19:41882000-41882800	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr19:41882000-41882800	Active TSS	Right Atrium	heart
19	chr19:41882000-41882800	Active TSS	HepG2	liver
20	chr19:41882000-41883000	Active TSS	H9 Cell Line	embryonic stem cell
21	chr19:41882000-41883000	Flanking Active TSS	Primary hematopoietic stem cells	blood
22	chr19:41882000-41883000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
23	chr19:41882000-41883000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr19:41882000-41883000	Active TSS	Fetal Intestine Large	intestine
25	chr19:41882000-41883000	Flanking Active TSS	Fetal Muscle Leg	muscle
26	chr19:41882000-41883000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
27	chr19:41882000-41883000	Flanking Active TSS	Stomach Smooth Muscle	stomach
28	chr19:41882000-41883000	Flanking Active TSS	NH-A	brain
29	chr19:41882000-41883200	Active TSS	ES-I3 Cell Line	embryonic stem cell
30	chr19:41882000-41883200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
31	chr19:41882000-41883200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr19:41882000-41883200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr19:41882000-41883200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr19:41882000-41883200	Active TSS	iPS-15b Cell Line	embryonic stem cell
35	chr19:41882000-41883200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr19:41882000-41883200	Flanking Active TSS	Primary B cells from cord blood	blood
37	chr19:41882000-41883200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr19:41882000-41883200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr19:41882000-41883200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr19:41882000-41883200	Flanking Active TSS	Adipose Nuclei	Adipose
41	chr19:41882000-41883200	Active TSS	Brain Cingulate Gyrus	brain
42	chr19:41882000-41883200	Active TSS	Brain Inferior Temporal Lobe	brain
43	chr19:41882000-41883200	Flanking Active TSS	Fetal Stomach	stomach
44	chr19:41882000-41883200	Flanking Active TSS	Rectal Smooth Muscle	rectum
45	chr19:41882000-41883200	Flanking Active TSS	HMEC	breast
46	chr19:41882000-41883200	Flanking Active TSS	NHEK	skin
47	chr19:41882000-41883200	Flanking Active TSS	Osteobl	bone
48	chr19:41882000-41883400	Flanking Active TSS	Brain Anterior Caudate	brain
49	chr19:41882000-41883400	Flanking Active TSS	Brain Germinal Matrix	brain
50	chr19:41882000-41883600	Enhancers	Spleen	Spleen

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