Variant report

Variant	rs185267410
Chromosome Location	chr19:45252987-45252988
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:26)
CpG islands
(count:61)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:26 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr19:45252692-45253136	A549	lung:	n/a	chr19:45253056-45253069
2	POLR2A	chr19:45252965-45252994	HepG2	liver:	n/a	n/a
3	MTA3	chr19:45252537-45253543	GM12878	blood:	n/a	n/a
4	POLR2A	chr19:45252552-45253217	PFSK-1	brain:	n/a	n/a
5	CHD1	chr19:45250110-45253686	IMR90	lung:	n/a	chr19:45251838-45251848
6	BCL3	chr19:45248078-45253687	A549	lung:	n/a	chr19:45248561-45248574 chr19:45250739-45250752 chr19:45248567-45248580 chr19:45250771-45250780
7	WRNIP1	chr19:45252626-45253469	GM12878	blood:	n/a	n/a
8	POLR2A	chr19:45252471-45253044	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr19:45251877-45253521	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr19:45249872-45253681	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr19:45252236-45253600	U87	brain:	n/a	n/a
12	FOSL2	chr19:45252606-45253666	A549	lung:	n/a	chr19:45252886-45252895
13	CEBPB	chr19:45252626-45253133	Hela-S3	cervix:	n/a	chr19:45253056-45253069
14	POLR2A	chr19:45252292-45253527	A549	lung:	n/a	n/a
15	TCF12	chr19:45247727-45253774	A549	lung:	n/a	chr19:45248399-45248407 chr19:45249956-45249966
16	RUNX3	chr19:45252943-45253471	GM12878	blood:	n/a	n/a
17	POLR2A	chr19:45252259-45253459	U87	brain:	n/a	n/a
18	MAZ	chr19:45249597-45253664	IMR90	lung:	n/a	chr19:45252537-45252546 chr19:45250878-45250887 chr19:45252540-45252550
19	POLR2A	chr19:45252230-45253606	U87	brain:	n/a	n/a
20	POLR2A	chr19:45252561-45253654	PANC-1	pancreas:	n/a	n/a
21	STAT5A	chr19:45252740-45253133	GM12878	blood:	n/a	chr19:45253090-45253098
22	BCL3	chr19:45247680-45253680	A549	lung:	n/a	chr19:45248561-45248574 chr19:45250739-45250752 chr19:45248567-45248580 chr19:45250771-45250780
23	POLR2A	chr19:45250394-45253526	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr19:45252410-45253639	GM12878	blood:	n/a	n/a
25	POLR2A	chr19:45252853-45253647	GM12878	blood:	n/a	n/a
26	RCOR1	chr19:45252361-45253668	IMR90	lung:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:45252955-45253005	HEEpiC	esophagus:	n/a
2	chr19:45252955-45253005	GM12892	blood:	n/a
3	chr19:45252955-45253005	Hela-S3	cervix:	n/a
4	chr19:45252955-45253005	SK-N-SH	brain:	n/a
5	chr19:45252955-45253005	NT2-D1	testis:	n/a
6	chr19:45252955-45253005	Jurkat	blood:	n/a
7	chr19:45252955-45253005	MCF10A-Er-Src	breast:	n/a
8	chr19:45252955-45253005	AoSMC	blood vessel:	n/a
9	chr19:45252955-45253005	SK-N-MC	brain:	n/a
10	chr19:45252955-45253005	IMR90	lung:	fetal
11	chr19:45252955-45253005	Hepatocyte	liver:	n/a
12	chr19:45252955-45253005	LNCaP	prostate:	n/a
13	chr19:45252955-45253005	NH-A	brain:	n/a
14	chr19:45252955-45253005	BE2_C	brain:	n/a
15	chr19:45252955-45253005	HMEC	breast:	n/a
16	chr19:45252955-45253005	HNPCEpiC	eye:	n/a
17	chr19:45252955-45253005	ovcar-3	ovarian:	n/a
18	chr19:45252955-45253005	HAEpiC	amniotic membrane:	n/a
19	chr19:45252955-45253005	SKMC	muscle:	n/a
20	chr19:45252955-45253005	GM12891	blood:	n/a
21	chr19:45252955-45253005	HCM	heart:	n/a
22	chr19:45252955-45253005	HIPEpiC	eye:	n/a
23	chr19:45252955-45253005	HepG2	liver:	n/a
24	chr19:45252955-45253005	GM19239	blood:	n/a
25	chr19:45252955-45253005	PANC-1	pancreas:	n/a
26	chr19:45252955-45253005	AG09319	gingival:	n/a
27	chr19:45252955-45253005	HCPEpiC	choroid plexus:	n/a
28	chr19:45252955-45253005	HRCEpiC	kidney:	n/a
29	chr19:45252955-45253005	HCT-116	colon:	n/a
30	chr19:45252955-45253005	T-47D	breast:	n/a
31	chr19:45252955-45253005	HRE	kidney:	n/a
32	chr19:45252955-45253005	A549	lung:	n/a
33	chr19:45252955-45253005	HCF	heart:	n/a
34	chr19:45252955-45253005	HPAEpiC	pulmonary alveolar:	n/a
35	chr19:45252955-45253005	SK-N-SH_RA	brain:	n/a
36	chr19:45252955-45253005	Caco-2	colon:	n/a
37	chr19:45252955-45253005	H1-hESC	embryonic stem cell:	embryo
38	chr19:45252955-45253005	GM06990	blood:	n/a
39	chr19:45252955-45253005	GM12878	blood:	n/a
40	chr19:45252955-45253005	RPTEC	kidney:	n/a
41	chr19:45252955-45253005	HRPEpiC	eye:	n/a
42	chr19:45252955-45253005	AG10803	skin:	n/a
43	chr19:45252955-45253005	AG04449	skin:	fetal
44	chr19:45252955-45253005	PrEC	prostate:	n/a
45	chr19:45252955-45253005	HUVEC	blood vessel:	n/a
46	chr19:45252955-45253005	ProgFib	skin:	n/a
47	chr19:45252955-45253005	HEK293	kidney:	embryo
48	chr19:45252955-45253005	HL-60	blood:	n/a
49	chr19:45252955-45253005	MCF-7	breast:	n/a
50	chr19:45252955-45253005	NB4	blood:	n/a

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:45164861..45166953-chr19:45250378..45253353,2	MCF-7	breast:
2	chr19:45150946..45153817-chr19:45251773..45254167,2	MCF-7	breast:
3	chr19:45251797..45254336-chr19:45349633..45353327,3	K562	blood:
4	chr19:45175686..45178014-chr19:45252899..45254725,2	MCF-7	breast:
5	chr19:45250646..45253385-chr19:45348787..45352398,5	MCF-7	breast:
6	chr19:45249129..45253567-chr19:45309146..45313529,6	MCF-7	breast:
7	chr19:45250044..45254049-chr19:45347224..45351011,6	MCF-7	breast:
8	chr19:45250785..45254453-chr19:45309921..45313662,4	MCF-7	breast:
9	chr19:45252053..45254233-chr19:45351379..45354120,2	MCF-7	breast:
10	chr19:45252003..45254960-chr19:45323071..45325536,2	K562	blood:
11	chr19:45198197..45200350-chr19:45252403..45254162,3	K562	blood:
12	chr19:45222394..45233722-chr19:45248498..45258065,33	MCF-7	breast:
13	chr16:75682151..75683053-chr19:45252133..45253014,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
BCL3	TF binding region
BCL3	CpG island
ENSG00000065427	Chromatin interaction
ENSG00000073008	Chromatin interaction
ENSG00000130202	Chromatin interaction
ENSG00000166848	Chromatin interaction
ENSG00000186567	Chromatin interaction
ENSG00000252200	Chromatin interaction
ENSG00000187244	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912116	chr19:45146103-45298069	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS 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 miRNA	29 gene(s)	inside rSNPs	diseases
2	nsv833841	chr19:45208486-45308043	Enhancers Bivalent/Poised TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
3	esv3335183	chr19:45225161-45253316	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	esv3324918	chr19:45250737-45253285	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	esv3447789	chr19:45251012-45253160	Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:45249800-45253200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr19:45250400-45253200	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr19:45250400-45254000	Active TSS	Sigmoid Colon	Sigmoid Colon
4	chr19:45250600-45253000	Active TSS	Right Ventricle	heart
5	chr19:45250600-45253000	Active TSS	HSMM	muscle
6	chr19:45250600-45253200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr19:45250600-45253200	Active TSS	Liver	Liver
8	chr19:45250600-45253200	Active TSS	Fetal Kidney	kidney
9	chr19:45250600-45253200	Active TSS	Left Ventricle	heart
10	chr19:45250600-45253200	Active TSS	Ovary	ovary
11	chr19:45250600-45253200	Active TSS	Right Atrium	heart
12	chr19:45250600-45253200	Active TSS	NHLF	lung
13	chr19:45250600-45253400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr19:45250600-45253400	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr19:45250800-45253000	Active TSS	A549	lung
16	chr19:45250800-45253200	Active TSS	Brain Angular Gyrus	brain
17	chr19:45250800-45253200	Active TSS	Esophagus	oesophagus
18	chr19:45251000-45253000	Active TSS	Aorta	Aorta
19	chr19:45251000-45253000	Active TSS	Spleen	Spleen
20	chr19:45251000-45253200	Active TSS	Lung	lung
21	chr19:45251000-45253400	Active TSS	Small Intestine	intestine
22	chr19:45251200-45253200	Active TSS	Pancreas	Pancrea
23	chr19:45251600-45253000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr19:45251600-45253000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr19:45251600-45253000	Active TSS	Breast Myoepithelial Primary Cells	Breast
26	chr19:45251600-45253000	Active TSS	Duodenum Smooth Muscle	Duodenum
27	chr19:45251600-45253000	Active TSS	GM12878-XiMat	blood
28	chr19:45251600-45253200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr19:45251600-45253200	Active TSS	Brain Anterior Caudate	brain
30	chr19:45251600-45253200	Active TSS	Hela-S3	cervix
31	chr19:45251600-45253800	Active TSS	NHDF-Ad	bronchial
32	chr19:45251600-45254800	Active TSS	Brain Hippocampus Middle	brain
33	chr19:45252000-45253200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
34	chr19:45252000-45253200	Active TSS	Gastric	stomach
35	chr19:45252000-45254200	Flanking Active TSS	Primary hematopoietic stem cells	blood
36	chr19:45252200-45253000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr19:45252200-45253000	Bivalent/Poised TSS	Fetal Thymus	thymus
38	chr19:45252200-45253200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
39	chr19:45252200-45253200	Flanking Active TSS	Fetal Muscle Trunk	muscle
40	chr19:45252200-45253400	Bivalent Enhancer	Fetal Brain Male	brain
41	chr19:45252200-45253400	Active TSS	Stomach Mucosa	stomach
42	chr19:45252200-45255000	Flanking Active TSS	Primary B cells from cord blood	blood
43	chr19:45252400-45253000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
44	chr19:45252400-45253000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr19:45252400-45253000	Flanking Active TSS	Brain Cingulate Gyrus	brain
46	chr19:45252400-45253000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
47	chr19:45252400-45253200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
48	chr19:45252400-45253200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
49	chr19:45252400-45253400	Flanking Active TSS	Primary B cells from peripheral blood	blood
50	chr19:45252400-45253400	Flanking Active TSS	Primary T cells from cord blood	blood

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