Variant report

Variant	rs191845148
Chromosome Location	chr19:52800195-52800196
allele	A/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	POLR2A	chr19:52800124-52800331	A549	lung:	n/a	n/a
2	PAX5	chr19:52800192-52800852	GM12878	blood:	n/a	chr19:52800699-52800708
3	POLR2A	chr19:52800020-52800972	K562	blood:	n/a	n/a
4	POLR2A	chr19:52800078-52801315	HepG2	liver:	n/a	n/a
5	POLR2A	chr19:52799947-52800813	PBDE	blood:	n/a	n/a
6	SIN3AK20	chr19:52800044-52800290	SK-N-SH	brain:	n/a	n/a
7	POLR2A	chr19:52800020-52801023	GM18505	blood:	n/a	n/a
8	ZMIZ1	chr19:52800139-52800870	K562	blood:	n/a	n/a
9	MAZ	chr19:52799619-52801613	IMR90	lung:	n/a	n/a
10	CCNT2	chr19:52800052-52800895	K562	blood:	n/a	n/a
11	MAX	chr19:52800115-52800905	K562	blood:	n/a	n/a
12	POLR2A	chr19:52800072-52800955	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr19:52800068-52801080	GM12892	blood:	n/a	n/a
14	POLR2A	chr19:52800068-52800276	K562	blood:	n/a	n/a
15	EGR1	chr19:52799937-52800947	K562	blood:	n/a	chr19:52800768-52800782 chr19:52800511-52800525
16	POLR2A	chr19:52799840-52801347	GM12891	blood:	n/a	n/a
17	POLR2A	chr19:52799923-52801098	K562	blood:	n/a	n/a
18	CHD2	chr19:52800020-52800824	GM12878	blood:	n/a	n/a
19	POLR2A	chr19:52800099-52800281	Hela-S3	cervix:	n/a	n/a
20	ELF1	chr19:52800001-52800286	K562	blood:	n/a	n/a
21	MYC	chr19:52800094-52800832	K562	blood:	n/a	n/a
22	POLR2A	chr19:52799967-52801511	GM12878	blood:	n/a	n/a
23	JUND	chr19:52800129-52800282	H1-hESC	embryonic stem cell:	n/a	chr19:52800245-52800259
24	ARID3A	chr19:52800057-52800292	HepG2	liver:	n/a	n/a
25	POLR2A	chr19:52800025-52801113	HepG2	liver:	n/a	n/a
26	POLR2A	chr19:52800080-52800940	MCF10A-Er-Src	breast:	n/a	n/a
27	REST	chr19:52799805-52801604	H1-neurons	neurons:	n/a	chr19:52800663-52800676 chr19:52800568-52800581 chr19:52800838-52800845 chr19:52801431-52801444 chr19:52800751-52800764 chr19:52801427-52801437
28	POLR2A	chr19:52800045-52801025	GM15510	blood:	n/a	n/a
29	MAX	chr19:52799746-52801246	A549	lung:	n/a	n/a
30	ELF1	chr19:52799994-52800319	HepG2	liver:	n/a	n/a
31	MTA3	chr19:52800001-52801219	GM12878	blood:	n/a	n/a
32	MAX	chr19:52800092-52801089	GM12878	blood:	n/a	n/a
33	IRF1	chr19:52799928-52800649	K562	blood:	n/a	n/a
34	RCOR1	chr19:52800092-52800282	GM12878	blood:	n/a	n/a
35	MXI1	chr19:52799569-52801627	SK-N-SH	brain:	n/a	n/a
36	POLR2A	chr19:52800021-52800962	GM18951	blood:	n/a	n/a
37	POLR2A	chr19:52800019-52801081	HL-60	blood:	n/a	n/a
38	MAX	chr19:52800121-52800649	Hela-S3	cervix:	n/a	n/a
39	CHD2	chr19:52800071-52801083	HepG2	liver:	n/a	n/a
40	POLR2A	chr19:52800141-52800267	A549	lung:	n/a	n/a
41	POLR2A	chr19:52800120-52800927	HepG2	liver:	n/a	n/a
42	MAX	chr19:52799930-52800289	K562	blood:	n/a	n/a
43	POLR2A	chr19:52799929-52801032	GM18526	blood:	n/a	n/a
44	POLR2A	chr19:52800142-52800817	Hela-S3	cervix:	n/a	n/a
45	ELF1	chr19:52799921-52800984	HCT-116	colon:	n/a	chr19:52800716-52800727
46	POLR2A	chr19:52800073-52800810	K562	blood:	n/a	n/a
47	ELF1	chr19:52799938-52801103	GM12878	blood:	n/a	chr19:52800716-52800727
48	ELF1	chr19:52800042-52800298	HepG2	liver:	n/a	n/a
49	POLR2A	chr19:52799996-52800332	H1-neurons	neurons:	n/a	n/a
50	POLR2A	chr19:52800058-52800928	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:52771242..52774496-chr19:52796154..52801198,5	MCF-7	breast:
2	chr19:52771362..52774263-chr19:52797982..52800693,2	K562	blood:
3	chr19:52799793..52802447-chr19:52803288..52807131,4	MCF-7	breast:
4	chr19:52772363..52775107-chr19:52799601..52802037,4	MCF-7	breast:
5	chr19:52799531..52802059-chr19:52803187..52805101,2	K562	blood:
6	chr1:147400307..147400981-chr19:52800137..52800809,2	MCF-7	breast:
7	chr19:52772712..52774263-chr19:52799047..52800693,2	K562	blood:

Variant related genes	Relation type
ZNF480	TF binding region
ENSG00000188092	Chromatin interaction
ENSG00000198464	Chromatin interaction
ENSG00000196214	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1065410	chr19:52103914-52889530	Genic enhancers Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	596 gene(s)	inside rSNPs	diseases
2	esv3366000	chr19:52491073-52842946	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv1066015	chr19:52502213-52890308	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv544059	chr19:52502213-52890308	Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	nsv833873	chr19:52788939-52937281	Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv1066537	chr19:52794424-53044977	Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	nsv544060	chr19:52794424-53044977	ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv912299	chr19:52795985-52832830	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
9	esv20268	chr19:52800177-52800862	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52792200-52800400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:52799400-52800200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
3	chr19:52799600-52800200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr19:52799600-52800200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr19:52799600-52800200	Flanking Active TSS	Primary B cells from cord blood	blood
6	chr19:52799600-52800200	Flanking Active TSS	Primary hematopoietic stem cells	blood
7	chr19:52799600-52800200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
8	chr19:52799600-52800200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
9	chr19:52799600-52800200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
10	chr19:52799600-52800200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
11	chr19:52799600-52800200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr19:52799600-52800200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
13	chr19:52799600-52800200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
14	chr19:52799600-52800200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr19:52799600-52800200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
16	chr19:52799600-52800200	Flanking Active TSS	Fetal Muscle Trunk	muscle
17	chr19:52799600-52800200	Flanking Active TSS	Fetal Muscle Leg	muscle
18	chr19:52799600-52800200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
19	chr19:52799600-52800200	Flanking Active TSS	Dnd41	blood
20	chr19:52799600-52800200	Flanking Active TSS	HUVEC	blood vessel
21	chr19:52799600-52800200	Flanking Active TSS	Osteobl	bone
22	chr19:52799600-52800800	Active TSS	Hela-S3	cervix
23	chr19:52799600-52800800	Active TSS	HSMMtube	muscle
24	chr19:52799600-52800800	Active TSS	K562	blood
25	chr19:52799600-52801000	Active TSS	Esophagus	oesophagus
26	chr19:52799600-52801000	Active TSS	Fetal Heart	heart
27	chr19:52799600-52801000	Active TSS	Gastric	stomach
28	chr19:52799600-52801000	Active TSS	Psoas Muscle	Psoas
29	chr19:52799600-52801000	Active TSS	Stomach Smooth Muscle	stomach
30	chr19:52799600-52801000	Active TSS	NH-A	brain
31	chr19:52799600-52801200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr19:52799600-52801200	Active TSS	Brain Hippocampus Middle	brain
33	chr19:52799600-52801200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
34	chr19:52799600-52801200	Active TSS	A549	lung
35	chr19:52799600-52801200	Active TSS	NHLF	lung
36	chr19:52799600-52801400	Active TSS	H9 Cell Line	embryonic stem cell
37	chr19:52799600-52801400	Active TSS	Fetal Intestine Small	intestine
38	chr19:52799600-52801400	Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr19:52799600-52801400	Active TSS	GM12878-XiMat	blood
40	chr19:52799600-52801600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr19:52799600-52801600	Active TSS	HUES6 Cell Line	embryonic stem cell
42	chr19:52799600-52801600	Active TSS	HUES64 Cell Line	embryonic stem cell
43	chr19:52799600-52801600	Active TSS	Fetal Kidney	kidney
44	chr19:52799600-52801800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr19:52799600-52801800	Active TSS	Colonic Mucosa	Colon
46	chr19:52799800-52800200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
47	chr19:52799800-52800200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
48	chr19:52799800-52800600	Active TSS	H1 Cell Line	embryonic stem cell
49	chr19:52799800-52800800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr19:52799800-52800800	Active TSS	Lung	lung

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