Variant report

Variant	rs117814223
Chromosome Location	chr19:36630372-36630373
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	MAX	chr19:36630293-36632395	Hela-S3	cervix:	n/a	chr19:36630977-36630987
2	IRF1	chr19:36630364-36631119	K562	blood:	n/a	chr19:36630974-36630988
3	ELF1	chr19:36630324-36631269	MCF-7	breast:	n/a	chr19:36630978-36630990
4	SMC3	chr19:36630315-36631732	Hela-S3	cervix:	n/a	chr19:36630401-36630408
5	POLR2A	chr19:36630078-36631946	HUVEC	blood vessel:	n/a	n/a
6	ELF1	chr19:36630280-36630627	K562	blood:	n/a	n/a
7	SRF	chr19:36630288-36631230	ECC-1	luminal epithelium:	n/a	chr19:36630977-36630987
8	POLR2A	chr19:36630335-36631671	HepG2	liver:	n/a	n/a
9	POLR2A	chr19:36630093-36632455	U87	brain:	n/a	n/a
10	BACH1	chr19:36630298-36630890	K562	blood:	n/a	n/a
11	POLR2A	chr19:36630344-36631246	GM12878	blood:	n/a	n/a
12	POLR2A	chr19:36630208-36633376	K562	blood:	n/a	n/a
13	TAF1	chr19:36630358-36632015	ECC-1	luminal epithelium:	n/a	n/a
14	POLR2A	chr19:36630161-36631899	U87	brain:	n/a	n/a
15	EBF1	chr19:36630351-36630679	GM12878	blood:	n/a	n/a
16	REST	chr19:36630271-36631337	PFSK-1	brain:	n/a	chr19:36631010-36631020 chr19:36631084-36631094 chr19:36630483-36630493
17	SP1	chr19:36630088-36631975	A549	lung:	n/a	chr19:36630422-36630432 chr19:36630833-36630845 chr19:36631478-36631487 chr19:36630724-36630737 chr19:36630416-36630425 chr19:36630977-36630987 chr19:36630835-36630844 chr19:36630977-36630991 chr19:36630833-36630844 chr19:36630423-36630432 chr19:36630977-36630986 chr19:36630978-36630987 chr19:36630415-36630427 chr19:36630422-36630432 chr19:36630781-36630792 chr19:36630976-36630988 chr19:36630833-36630845 chr19:36630417-36630426 chr19:36630976-36630988
18	FOXA2	chr19:36630100-36631236	A549	lung:	n/a	chr19:36630288-36630300
19	POLR2A	chr19:36630350-36631262	HEK293	kidney:	n/a	n/a
20	MAX	chr19:36630263-36631070	K562	blood:	n/a	chr19:36630977-36630987
21	ELF1	chr19:36630150-36631077	K562	blood:	n/a	chr19:36630978-36630990
22	PBX3	chr19:36630079-36632738	A549	lung:	n/a	chr19:36632485-36632494
23	TBP	chr19:36630247-36632362	Hela-S3	cervix:	n/a	n/a
24	RAD21	chr19:36630258-36631421	A549	lung:	n/a	chr19:36630484-36630498 chr19:36630474-36630486
25	TEAD4	chr19:36630232-36631918	K562	blood:	n/a	n/a
26	TCF12	chr19:36630305-36632408	ECC-1	luminal epithelium:	n/a	n/a
27	POLR2A	chr19:36630263-36632392	K562	blood:	n/a	n/a
28	POLR2A	chr19:36630323-36632407	GM12878	blood:	n/a	n/a
29	POLR2A	chr19:36630273-36631211	HepG2	liver:	n/a	n/a
30	FOSL2	chr19:36630035-36631803	A549	lung:	n/a	chr19:36630966-36630974 chr19:36630965-36630975 chr19:36630965-36630975 chr19:36630556-36630567
31	TAF1	chr19:36630313-36630674	Hela-S3	cervix:	n/a	n/a
32	SIN3AK20	chr19:36630288-36631223	SK-N-SH	brain:	n/a	n/a
33	POLR2A	chr19:36630342-36632424	IMR90	lung:	n/a	n/a
34	FOXA2	chr19:36629967-36631229	A549	lung:	n/a	chr19:36630288-36630300
35	TAF1	chr19:36630366-36631244	PFSK-1	brain:	n/a	n/a
36	POLR2A	chr19:36630251-36632725	K562	blood:	n/a	n/a
37	BCL3	chr19:36630064-36632006	A549	lung:	n/a	chr19:36631344-36631353 chr19:36630417-36630426
38	ZMIZ1	chr19:36630093-36631221	K562	blood:	n/a	n/a
39	TEAD4	chr19:36630308-36631935	A549	lung:	n/a	n/a
40	SIN3AK20	chr19:36630248-36631957	PANC-1	pancreas:	n/a	n/a
41	NRF1	chr19:36630317-36631099	GM12878	blood:	n/a	chr19:36630879-36630890 chr19:36630880-36630891 chr19:36630882-36630891 chr19:36630880-36630889 chr19:36630880-36630894 chr19:36630451-36630465 chr19:36630877-36630891
42	SP1	chr19:36630080-36632576	A549	lung:	n/a	chr19:36630422-36630432 chr19:36630833-36630845 chr19:36632143-36632152 chr19:36631478-36631487 chr19:36632142-36632152 chr19:36632141-36632153 chr19:36632191-36632201 chr19:36632142-36632151 chr19:36632141-36632153 chr19:36630724-36630737 chr19:36630416-36630425 chr19:36630977-36630987 chr19:36630835-36630844 chr19:36630977-36630991 chr19:36632143-36632152 chr19:36632192-36632201 chr19:36630833-36630844 chr19:36630423-36630432 chr19:36630977-36630986 chr19:36630978-36630987 chr19:36630415-36630427 chr19:36632321-36632333 chr19:36632142-36632152 chr19:36630422-36630432 chr19:36630781-36630792 chr19:36630976-36630988 chr19:36630833-36630845 chr19:36630417-36630426 chr19:36632191-36632201 chr19:36630976-36630988
43	EP300	chr19:36630305-36631176	ECC-1	luminal epithelium:	n/a	chr19:36631109-36631125 chr19:36630980-36630996 chr19:36630454-36630470
44	PML	chr19:36630303-36631257	K562	blood:	n/a	chr19:36630967-36630976
45	ELF1	chr19:36630170-36631930	A549	lung:	n/a	chr19:36630978-36630990
46	POLR2A	chr19:36630273-36632419	A549	lung:	n/a	n/a
47	REST	chr19:36629974-36631946	A549	lung:	n/a	chr19:36631010-36631020 chr19:36631084-36631094 chr19:36630483-36630493
48	ETS1	chr19:36629981-36631986	A549	lung:	n/a	chr19:36630417-36630428 chr19:36631013-36631026
49	EP300	chr19:36630071-36631981	A549	lung:	n/a	chr19:36631109-36631125 chr19:36630980-36630996 chr19:36630454-36630470
50	ZKSCAN1	chr19:36630360-36631229	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:36629391..36631341-chr19:38851035..38853209,2	MCF-7	breast:
2	chr19:36629161..36631921-chr19:37341375..37343285,2	MCF-7	breast:
3	chr19:36601521..36604291-chr19:36630338..36633807,8	MCF-7	breast:
4	chr19:36604617..36608522-chr19:36628102..36632329,9	MCF-7	breast:
5	chr19:36543201..36546500-chr19:36630161..36633757,3	MCF-7	breast:
6	chr19:36629466..36631434-chr19:38753724..38756328,2	MCF-7	breast:
7	chr19:36630278..36632151-chr19:36704046..36706551,3	MCF-7	breast:
8	chr19:36543278..36547003-chr19:36629856..36633093,3	MCF-7	breast:
9	chr19:36604314..36608037-chr19:36629557..36633745,12	MCF-7	breast:
10	chr19:36628146..36630638-chr19:37017222..37019646,2	K562	blood:
11	chr19:36629887..36633258-chr19:36704150..36708473,10	K562	blood:
12	chr19:36604594..36608993-chr19:36628830..36633466,13	K562	blood:

Variant related genes	Relation type
CAPNS1	TF binding region
ENSG00000228629	Chromatin interaction
ENSG00000196357	Chromatin interaction
ENSG00000167635	Chromatin interaction
ENSG00000254004	Chromatin interaction
ENSG00000105258	Chromatin interaction
ENSG00000251247	Chromatin interaction
ENSG00000161277	Chromatin interaction
ENSG00000075702	Chromatin interaction
ENSG00000105261	Chromatin interaction
ENSG00000197863	Chromatin interaction
ENSG00000167642	Chromatin interaction
ENSG00000266963	Chromatin interaction
ENSG00000105254	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	esv3526489	chr19:36306483-36741945	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	esv3526490	chr19:36306483-36741945	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
3	esv1831737	chr19:36324324-36690874	Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	esv2752541	chr19:36563057-36690874	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
5	nsv911642	chr19:36620778-36651499	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	nsv911643	chr19:36627790-36651499	Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv911644	chr19:36628463-36643695	Transcr. at gene 5' and 3' Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
8	nsv911645	chr19:36628463-36651499	ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
9	nsv911646	chr19:36629631-36643695	Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
10	nsv911647	chr19:36629631-36651499	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36623800-36630400	Weak transcription	Lung	lung
2	chr19:36626600-36630400	Weak transcription	Esophagus	oesophagus
3	chr19:36626600-36630400	Weak transcription	Gastric	stomach
4	chr19:36628000-36630400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr19:36628200-36630400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr19:36628200-36630400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr19:36628200-36630400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr19:36628200-36630400	Weak transcription	Spleen	Spleen
9	chr19:36628400-36630400	Weak transcription	NHDF-Ad	bronchial
10	chr19:36628600-36630400	Weak transcription	Stomach Mucosa	stomach
11	chr19:36629600-36630400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr19:36630000-36630600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
13	chr19:36630000-36630600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr19:36630000-36630800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
15	chr19:36630000-36630800	Flanking Active TSS	Primary hematopoietic stem cells	blood
16	chr19:36630000-36630800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr19:36630000-36630800	Flanking Active TSS	HMEC	breast
18	chr19:36630000-36632200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr19:36630000-36632200	Active TSS	Brain Inferior Temporal Lobe	brain
20	chr19:36630200-36630400	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr19:36630200-36630400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr19:36630200-36630400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr19:36630200-36630400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr19:36630200-36630400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr19:36630200-36630400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
26	chr19:36630200-36630400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr19:36630200-36630400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr19:36630200-36630400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr19:36630200-36630400	Flanking Active TSS	Brain Germinal Matrix	brain
30	chr19:36630200-36630400	Flanking Active TSS	Duodenum Mucosa	Duodenum
31	chr19:36630200-36630400	Flanking Active TSS	Fetal Intestine Large	intestine
32	chr19:36630200-36630400	Flanking Active TSS	Fetal Intestine Small	intestine
33	chr19:36630200-36630400	Flanking Active TSS	Placenta	Placenta
34	chr19:36630200-36630400	Flanking Active TSS	Fetal Stomach	stomach
35	chr19:36630200-36630400	Enhancers	Pancreas	Pancrea
36	chr19:36630200-36630400	Flanking Active TSS	Placenta Amnion	Placenta Amnion
37	chr19:36630200-36630400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
38	chr19:36630200-36630400	Flanking Active TSS	A549	lung
39	chr19:36630200-36630400	Flanking Active TSS	Hela-S3	cervix
40	chr19:36630200-36630400	Flanking Active TSS	HSMMtube	muscle
41	chr19:36630200-36630400	Active TSS	NH-A	brain
42	chr19:36630200-36630400	Enhancers	Osteobl	bone
43	chr19:36630200-36630600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr19:36630200-36630600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr19:36630200-36630600	Flanking Active TSS	Primary B cells from peripheral blood	blood
46	chr19:36630200-36630600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
47	chr19:36630200-36630600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
48	chr19:36630200-36630600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
49	chr19:36630200-36630600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
50	chr19:36630200-36630600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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