Variant report

Variant	rs2302183
Chromosome Location	chr19:38853297-38853298
allele	A/G
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	SIN3AK20	chr19:38851954-38853308	A549	lung:	n/a	n/a
2	NR2F2	chr19:38852831-38853443	K562	blood:	n/a	n/a
3	POLR2A	chr19:38852918-38853418	MCF-7	breast:	n/a	n/a
4	TCF12	chr19:38850909-38853674	A549	lung:	n/a	chr19:38852144-38852154
5	SIN3AK20	chr19:38852256-38853491	PANC-1	pancreas:	n/a	n/a
6	TBP	chr19:38852266-38853432	H1-hESC	embryonic stem cell:	n/a	n/a
7	CBX3	chr19:38853149-38853532	K562	blood:	n/a	n/a
8	TAF7	chr19:38853002-38853405	H1-hESC	embryonic stem cell:	n/a	n/a
9	ZNF384	chr19:38853051-38853590	K562	blood:	n/a	n/a
10	MAZ	chr19:38852954-38853435	Hela-S3	cervix:	n/a	n/a
11	ZNF143	chr19:38852793-38853527	H1-hESC	embryonic stem cell:	n/a	chr19:38852945-38852955
12	E2F4	chr19:38852927-38853408	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr19:38852994-38853510	ProgFib	skin:	n/a	n/a
14	BCL3	chr19:38851416-38853478	A549	lung:	n/a	chr19:38852942-38852951
15	ELF1	chr19:38852650-38853303	A549	lung:	n/a	chr19:38852945-38852957
16	EP300	chr19:38852622-38853312	A549	lung:	n/a	n/a
17	MAX	chr19:38852792-38853341	A549	lung:	n/a	n/a
18	CREB1	chr19:38852644-38853421	A549	lung:	n/a	n/a
19	POLR2A	chr19:38852246-38853516	H1-neurons	neurons:	n/a	n/a
20	TAF1	chr19:38852998-38853305	H1-hESC	embryonic stem cell:	n/a	n/a
21	SIX5	chr19:38852638-38853677	A549	lung:	n/a	n/a
22	ZBTB7A	chr19:38853062-38853485	K562	blood:	n/a	n/a
23	MAX	chr19:38852263-38853520	K562	blood:	n/a	chr19:38852622-38852632
24	POLR2A	chr19:38852660-38853503	H1-hESC	embryonic stem cell:	n/a	n/a
25	TBL1XR1	chr19:38852892-38853474	K562	blood:	n/a	n/a
26	POLR2A	chr19:38852862-38853362	PFSK-1	brain:	n/a	n/a
27	POLR2A	chr19:38852765-38853437	Hela-S3	cervix:	n/a	n/a
28	BACH1	chr19:38853057-38853470	H1-hESC	embryonic stem cell:	n/a	n/a
29	HMGN3	chr19:38852221-38853464	K562	blood:	n/a	n/a
30	SIN3AK20	chr19:38852629-38853558	H1-hESC	embryonic stem cell:	n/a	n/a
31	MYC	chr19:38852285-38853478	K562	blood:	n/a	chr19:38852622-38852632
32	SP1	chr19:38852053-38853642	A549	lung:	n/a	chr19:38852912-38852923 chr19:38852970-38852980 chr19:38852971-38852980 chr19:38852681-38852691 chr19:38852622-38852632 chr19:38852637-38852647 chr19:38852618-38852632 chr19:38852636-38852648 chr19:38852623-38852632 chr19:38852970-38852979 chr19:38852969-38852981 chr19:38852681-38852691 chr19:38852621-38852633 chr19:38852970-38852980 chr19:38852939-38852946 chr19:38852638-38852647 chr19:38852637-38852647 chr19:38852200-38852210 chr19:38852636-38852648 chr19:38852633-38852647 chr19:38852637-38852646 chr19:38852622-38852631 chr19:38852940-38852952 chr19:38852638-38852647
33	POLR2A	chr19:38852987-38853359	Hela-S3	cervix:	n/a	n/a
34	GABPA	chr19:38852734-38853305	A549	lung:	n/a	n/a
35	TCF12	chr19:38853213-38853447	H1-hESC	embryonic stem cell:	n/a	n/a
36	MAX	chr19:38852790-38853399	ECC-1	luminal epithelium:	n/a	n/a
37	POLR2A	chr19:38852929-38853314	U87	brain:	n/a	n/a
38	GABPA	chr19:38852740-38853428	K562	blood:	n/a	n/a
39	SIN3AK20	chr19:38852046-38853502	MCF-7	breast:	n/a	n/a
40	E2F6	chr19:38852939-38853485	K562	blood:	n/a	n/a
41	MYC	chr19:38852833-38853454	K562	blood:	n/a	n/a
42	YY1	chr19:38852874-38853364	ECC-1	luminal epithelium:	n/a	chr19:38852944-38852953 chr19:38853159-38853171
43	JUND	chr19:38852593-38853338	A549	lung:	n/a	n/a
44	SIN3AK20	chr19:38852619-38853329	A549	lung:	n/a	n/a
45	CHD2	chr19:38852968-38853346	Hela-S3	cervix:	n/a	n/a
46	GABPA	chr19:38853171-38853463	K562	blood:	n/a	n/a
47	MAX	chr19:38852962-38853538	K562	blood:	n/a	n/a
48	YY1	chr19:38852765-38853381	SK-N-SH_RA	brain:	n/a	chr19:38852944-38852953 chr19:38853159-38853171
49	TEAD4	chr19:38852928-38853469	K562	blood:	n/a	n/a
50	RCOR1	chr19:38853134-38853425	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:38794216..38796351-chr19:38852337..38854290,3	MCF-7	breast:
2	chr19:38851531..38855576-chr19:38863499..38866575,5	MCF-7	breast:
3	chr19:38851019..38853857-chr19:38863435..38867110,13	MCF-7	breast:
4	chr19:38851827..38854715-chr19:38877414..38880419,4	K562	blood:
5	chr19:38851103..38853998-chr19:38877778..38880419,3	K562	blood:
6	chr19:38850348..38855103-chr19:38862504..38867180,11	K562	blood:
7	chr19:38755112..38757929-chr19:38851639..38853560,2	MCF-7	breast:
8	chr19:38826255..38829380-chr19:38850634..38854376,3	MCF-7	breast:
9	chr19:38852887..38853409-chr8:126442063..126443013,2	Hela-S3	cervix:
10	chr19:38826766..38829028-chr19:38851929..38854753,2	K562	blood:
11	chr19:38849999..38854779-chr19:38863669..38868606,10	K562	blood:
12	chr19:38851829..38853788-chr19:38876902..38878905,2	MCF-7	breast:
13	chr19:38846299..38848988-chr19:38850348..38854198,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000266963	TF binding region
CATSPERG	TF binding region
ENSG00000099338	Chromatin interaction
ENSG00000173334	Chromatin interaction
ENSG00000099341	Chromatin interaction
ENSG00000188766	Chromatin interaction
ENSG00000167642	Chromatin interaction
ENSG00000179168	Chromatin interaction
ENSG00000167644	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11666449	0.95[EUR][1000 genomes]
rs11668651	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11669131	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11669230	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11671779	0.97[ASN][1000 genomes]
rs11672219	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11672531	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11672793	0.82[AMR][1000 genomes]
rs11673012	0.93[ASN][1000 genomes]
rs11673203	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11673222	0.97[ASN][1000 genomes]
rs2286473	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2302182	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2304177	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2368484	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2887262	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34989303	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35308902	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3745951	0.87[ASN][1000 genomes]
rs3745952	0.92[ASN][1000 genomes]
rs4386247	0.95[ASN][1000 genomes]
rs45437199	0.88[ASN][1000 genomes]
rs4801723	0.89[EUR][1000 genomes]
rs4802326	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4802327	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4804016	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4804046	0.87[AMR][1000 genomes]
rs57681346	0.90[EUR][1000 genomes]
rs60082376	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60487067	0.92[EUR][1000 genomes]
rs61091932	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7256575	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73041302	0.92[ASN][1000 genomes]
rs8106900	0.95[ASN][1000 genomes]
rs931749	0.92[ASN][1000 genomes]
rs931750	0.92[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	nsv1063471	chr19:38734744-39148392	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	73 gene(s)	inside rSNPs	diseases
2	nsv833822	chr19:38760748-38945105	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
3	nsv911658	chr19:38785318-39002140	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
4	nsv470140	chr19:38840139-39119494	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
5	nsv911659	chr19:38852357-39002140	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
6	nsv911660	chr19:38852357-39060238	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2302183	C19orf33	cis	Heart Left Ventricle	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38851400-38853400	Active TSS	Hela-S3	cervix
2	chr19:38852000-38853400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr19:38852000-38853400	Active TSS	Right Atrium	heart
4	chr19:38852000-38853600	Active TSS	H9 Cell Line	embryonic stem cell
5	chr19:38852000-38853600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
6	chr19:38852000-38853600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
7	chr19:38852200-38853400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr19:38852200-38853400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr19:38852200-38853400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
10	chr19:38852200-38853400	Active TSS	Aorta	Aorta
11	chr19:38852200-38853400	Active TSS	Esophagus	oesophagus
12	chr19:38852200-38853400	Active TSS	Left Ventricle	heart
13	chr19:38852200-38853400	Flanking Active TSS	Pancreas	Pancrea
14	chr19:38852200-38853400	Active TSS	NH-A	brain
15	chr19:38852200-38853600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr19:38852200-38853600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr19:38852200-38853600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr19:38852200-38853600	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
19	chr19:38852200-38853600	Active TSS	Brain Cingulate Gyrus	brain
20	chr19:38852200-38853600	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr19:38852200-38853600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
22	chr19:38852200-38853600	Flanking Active TSS	Placenta	Placenta
23	chr19:38852200-38853600	Active TSS	Psoas Muscle	Psoas
24	chr19:38852200-38853800	Active TSS	H1 Cell Line	embryonic stem cell
25	chr19:38852200-38853800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr19:38852200-38853800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr19:38852200-38853800	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
28	chr19:38852200-38853800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr19:38852400-38853400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr19:38852400-38853400	Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr19:38852400-38853400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
32	chr19:38852400-38853400	Active TSS	Muscle Satellite Cultured Cells	--
33	chr19:38852400-38853400	Active TSS	Brain Substantia Nigra	brain
34	chr19:38852400-38853400	Bivalent/Poised TSS	Fetal Intestine Large	intestine
35	chr19:38852400-38853400	Active TSS	Fetal Lung	lung
36	chr19:38852400-38853400	Active TSS	Rectal Mucosa Donor 31	rectum
37	chr19:38852400-38853400	Active TSS	Sigmoid Colon	Sigmoid Colon
38	chr19:38852400-38853400	Active TSS	A549	lung
39	chr19:38852400-38853400	Active TSS	NHDF-Ad	bronchial
40	chr19:38852400-38853400	Active TSS	NHEK	skin
41	chr19:38852400-38853600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
42	chr19:38852400-38853600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr19:38852400-38853600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr19:38852400-38853600	Flanking Active TSS	Primary hematopoietic stem cells	blood
45	chr19:38852400-38853600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr19:38852400-38853600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr19:38852400-38853600	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
48	chr19:38852400-38853600	Active TSS	HSMMtube	muscle
49	chr19:38852400-38853600	Active TSS	NHLF	lung
50	chr19:38852400-38853800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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