Variant report

Variant	rs118092381
Chromosome Location	chr19:41193300-41193301
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	TCF12	chr19:41193079-41193599	GM12878	blood:	n/a	chr19:41193447-41193454
2	TAL1	chr19:41193194-41193866	K562	blood:	n/a	chr19:41193342-41193357 chr19:41193713-41193728 chr19:41193342-41193357 chr19:41193342-41193357 chr19:41193713-41193728
3	RUNX3	chr19:41193020-41193983	GM12878	blood:	n/a	chr19:41193522-41193539
4	HDAC2	chr19:41193280-41193671	K562	blood:	n/a	n/a
5	MTA3	chr19:41193188-41193902	GM12878	blood:	n/a	n/a
6	TCF12	chr19:41193053-41193638	GM12878	blood:	n/a	chr19:41193447-41193454
7	STAT5A	chr19:41193177-41193935	GM12878	blood:	n/a	n/a
8	POU2F2	chr19:41193007-41193652	GM12891	blood:	n/a	chr19:41193351-41193365 chr19:41193354-41193367
9	CHD2	chr19:41193256-41193983	GM12878	blood:	n/a	n/a
10	ATF2	chr19:41193253-41193920	GM12878	blood:	n/a	chr19:41193593-41193604
11	PML	chr19:41193047-41193968	GM12878	blood:	n/a	n/a
12	PAX5	chr19:41193130-41193640	GM12878	blood:	n/a	n/a
13	STAT5A	chr19:41193052-41195402	K562	blood:	n/a	n/a
14	POLR2A	chr19:41193287-41197366	IMR90	lung:	n/a	n/a
15	MXI1	chr19:41192631-41197581	IMR90	lung:	n/a	chr19:41193038-41193053 chr19:41193021-41193036
16	MXI1	chr19:41192932-41193912	K562	blood:	n/a	chr19:41193038-41193053 chr19:41193021-41193036
17	SPI1	chr19:41193261-41193642	GM12878	blood:	n/a	n/a
18	RCOR1	chr19:41193266-41193533	GM12878	blood:	n/a	n/a
19	BHLHE40	chr19:41193254-41193697	GM12878	blood:	n/a	n/a
20	PAX5	chr19:41193126-41194048	GM12878	blood:	n/a	n/a
21	MAX	chr19:41193238-41194546	K562	blood:	n/a	chr19:41193826-41193835 chr19:41193824-41193835 chr19:41193823-41193836 chr19:41193825-41193834 chr19:41193825-41193834 chr19:41193823-41193836 chr19:41193825-41193834 chr19:41193824-41193835 chr19:41194393-41194403
22	BCL3	chr19:41193138-41194079	GM12878	blood:	n/a	n/a
23	ATF2	chr19:41193129-41193822	GM12878	blood:	n/a	chr19:41193593-41193604
24	POLR2A	chr19:41193285-41193927	K562	blood:	n/a	n/a
25	RUNX3	chr19:41193032-41193983	GM12878	blood:	n/a	chr19:41193522-41193539
26	EP300	chr19:41193284-41193840	GM12878	blood:	n/a	n/a
27	CHD1	chr19:41192595-41197591	IMR90	lung:	n/a	chr19:41196943-41196953 chr19:41196593-41196603
28	TCF3	chr19:41193058-41193605	GM12878	blood:	n/a	n/a
29	MTA3	chr19:41193138-41194143	GM12878	blood:	n/a	n/a
30	STAT5A	chr19:41193198-41195366	GM12878	blood:	n/a	n/a
31	TEAD4	chr19:41193037-41193998	K562	blood:	n/a	n/a
32	EGR1	chr19:41193272-41193651	K562	blood:	n/a	n/a
33	SPI1	chr19:41193287-41193633	GM12878	blood:	n/a	n/a
34	SPI1	chr19:41193289-41193646	GM12891	blood:	n/a	n/a
35	CBX3	chr19:41193033-41194110	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:41191561..41193487-chr19:41256304..41257809,2	K562	blood:
2	chr19:41191987..41193561-chr19:41255476..41257809,2	K562	blood:
3	chr19:41192210..41194375-chr19:41305816..41308792,2	MCF-7	breast:
4	chr19:41186952..41192144-chr19:41192156..41195982,8	MCF-7	breast:
5	chr19:41185972..41188881-chr19:41192870..41195079,2	K562	blood:
6	chr19:41191573..41194549-chr19:41222613..41224121,2	K562	blood:
7	chr19:41191702..41194594-chr19:41196563..41198200,2	MCF-7	breast:
8	chr19:41193182..41199089-chr19:41206241..41209564,9	MCF-7	breast:
9	chr19:41191453..41200740-chr19:41219595..41226457,20	MCF-7	breast:

Variant related genes	Relation type
NUMBL	TF binding region
ENSG00000268797	Chromatin interaction
ENSG00000188493	Chromatin interaction
ENSG00000123815	Chromatin interaction
ENSG00000077312	Chromatin interaction
ENSG00000086544	Chromatin interaction
ENSG00000269858	Chromatin interaction
ENSG00000105245	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1830682	chr19:40880127-41270055	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	139 gene(s)	inside rSNPs	diseases
2	nsv911723	chr19:41075990-41195279	Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv911727	chr19:41111069-41200511	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv911728	chr19:41111069-41211056	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	esv1800615	chr19:41127465-41270055	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
6	nsv1058707	chr19:41146147-41200820	Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	20 gene(s)	inside rSNPs	diseases
7	nsv1067017	chr19:41185992-41231251	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	36 gene(s)	inside rSNPs	diseases
8	esv3432319	chr19:41190112-41196510	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
9	esv3391681	chr19:41192212-41196610	Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
10	nsv820299	chr19:41193264-41195994	Active TSS Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41169800-41195400	Weak transcription	Psoas Muscle	Psoas
2	chr19:41172600-41193400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr19:41172600-41193600	Strong transcription	Cortex derived primary cultured neurospheres	brain
4	chr19:41175800-41194200	Weak transcription	Fetal Heart	heart
5	chr19:41175800-41196000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr19:41176000-41195200	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr19:41176200-41195600	Weak transcription	Small Intestine	intestine
8	chr19:41179200-41194800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr19:41179200-41195800	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr19:41179800-41196000	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr19:41180800-41193600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr19:41181200-41195200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr19:41184200-41193800	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr19:41184600-41194800	Weak transcription	Fetal Thymus	thymus
15	chr19:41186600-41193400	Strong transcription	H1 Cell Line	embryonic stem cell
16	chr19:41186600-41194200	Strong transcription	H9 Cell Line	embryonic stem cell
17	chr19:41187000-41195600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr19:41187200-41195200	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr19:41187200-41195800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr19:41187400-41193600	Weak transcription	HUVEC	blood vessel
21	chr19:41187400-41195200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr19:41187600-41195800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr19:41188800-41195800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr19:41191800-41194800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr19:41191800-41194800	Weak transcription	HMEC	breast
26	chr19:41191800-41195600	Weak transcription	Primary hematopoietic stem cells	blood
27	chr19:41192000-41193400	Weak transcription	Hela-S3	cervix
28	chr19:41192000-41193600	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr19:41192000-41193800	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr19:41192000-41193800	Weak transcription	Pancreas	Pancrea
31	chr19:41192000-41194400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr19:41192000-41194800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr19:41192000-41195000	Weak transcription	Fetal Intestine Large	intestine
34	chr19:41192000-41195200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr19:41192000-41195200	Weak transcription	Brain Substantia Nigra	brain
36	chr19:41192200-41193400	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr19:41192200-41193800	Weak transcription	Brain Angular Gyrus	brain
38	chr19:41192200-41194600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr19:41192600-41193400	Genic enhancers	Fetal Muscle Leg	muscle
40	chr19:41192600-41193800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr19:41192600-41193800	Weak transcription	Fetal Kidney	kidney
42	chr19:41192600-41194600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr19:41192600-41195200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr19:41192600-41195200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr19:41192600-41195800	Weak transcription	Liver	Liver
46	chr19:41192600-41196000	Enhancers	Primary B cells from peripheral blood	blood
47	chr19:41192600-41196000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
48	chr19:41192800-41193400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr19:41192800-41193400	Weak transcription	Ovary	ovary
50	chr19:41192800-41193600	Weak transcription	Brain Cingulate Gyrus	brain

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