Variant report

Variant	rs112180123
Chromosome Location	chr19:36630786-36630787
allele	A/C
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	ETS1	chr19:36630730-36631134	K562	blood:	n/a	chr19:36631013-36631026
2	MXI1	chr19:36630378-36631839	K562	blood:	n/a	n/a
3	MAX	chr19:36630293-36632395	Hela-S3	cervix:	n/a	chr19:36630977-36630987
4	IRF1	chr19:36630364-36631119	K562	blood:	n/a	chr19:36630974-36630988
5	ELF1	chr19:36630324-36631269	MCF-7	breast:	n/a	chr19:36630978-36630990
6	SMC3	chr19:36630315-36631732	Hela-S3	cervix:	n/a	chr19:36630401-36630408
7	POLR2A	chr19:36630078-36631946	HUVEC	blood vessel:	n/a	n/a
8	TEAD4	chr19:36630604-36631954	ECC-1	luminal epithelium:	n/a	n/a
9	USF2	chr19:36630640-36631001	GM12878	blood:	n/a	chr19:36630979-36630995
10	SRF	chr19:36630288-36631230	ECC-1	luminal epithelium:	n/a	chr19:36630977-36630987
11	STAT3	chr19:36630434-36631022	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr19:36630335-36631671	HepG2	liver:	n/a	n/a
13	POLR2A	chr19:36630093-36632455	U87	brain:	n/a	n/a
14	BACH1	chr19:36630298-36630890	K562	blood:	n/a	n/a
15	GABPA	chr19:36630427-36631947	A549	lung:	n/a	chr19:36630880-36630891 chr19:36630882-36630891 chr19:36630880-36630889 chr19:36630880-36630894 chr19:36630451-36630465 chr19:36630877-36630891
16	NFIC	chr19:36630528-36631360	GM12878	blood:	n/a	n/a
17	POLR2A	chr19:36630344-36631246	GM12878	blood:	n/a	n/a
18	POLR2A	chr19:36630208-36633376	K562	blood:	n/a	n/a
19	YY1	chr19:36630686-36631215	ECC-1	luminal epithelium:	n/a	chr19:36630976-36630990
20	TAF1	chr19:36630358-36632015	ECC-1	luminal epithelium:	n/a	n/a
21	POLR2A	chr19:36630161-36631899	U87	brain:	n/a	n/a
22	MYC	chr19:36630768-36631108	MCF10A-Er-Src	breast:	n/a	chr19:36630977-36630987
23	REST	chr19:36630271-36631337	PFSK-1	brain:	n/a	chr19:36631010-36631020 chr19:36631084-36631094 chr19:36630483-36630493
24	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
25	YY1	chr19:36630694-36631142	ECC-1	luminal epithelium:	n/a	chr19:36630976-36630990
26	FOXA2	chr19:36630100-36631236	A549	lung:	n/a	chr19:36630288-36630300
27	POLR2A	chr19:36630377-36631382	PBDE	blood:	n/a	n/a
28	CUX1	chr19:36630570-36630951	GM12878	blood:	n/a	n/a
29	MAFK	chr19:36630433-36631048	K562	blood:	n/a	n/a
30	POLR2A	chr19:36630350-36631262	HEK293	kidney:	n/a	n/a
31	STAT3	chr19:36630614-36631000	MCF10A-Er-Src	breast:	n/a	n/a
32	RELA	chr19:36630480-36631076	GM19099	blood:	n/a	n/a
33	FOS	chr19:36630665-36631161	HUVEC	blood vessel:	n/a	chr19:36630966-36630974 chr19:36630965-36630975 chr19:36630964-36630975 chr19:36630965-36630975
34	MAX	chr19:36630263-36631070	K562	blood:	n/a	chr19:36630977-36630987
35	JUND	chr19:36630755-36631106	H1-hESC	embryonic stem cell:	n/a	chr19:36630966-36630974 chr19:36630965-36630975 chr19:36630965-36630975 chr19:36630964-36630975
36	ELF1	chr19:36630150-36631077	K562	blood:	n/a	chr19:36630978-36630990
37	PBX3	chr19:36630079-36632738	A549	lung:	n/a	chr19:36632485-36632494
38	GTF2F1	chr19:36630584-36631013	H1-hESC	embryonic stem cell:	n/a	n/a
39	YY1	chr19:36630723-36631050	H1-hESC	embryonic stem cell:	n/a	chr19:36630976-36630990
40	JUND	chr19:36630673-36631115	HepG2	liver:	n/a	chr19:36630966-36630974 chr19:36630965-36630975 chr19:36630965-36630975 chr19:36630964-36630975
41	TBP	chr19:36630247-36632362	Hela-S3	cervix:	n/a	n/a
42	RAD21	chr19:36630258-36631421	A549	lung:	n/a	chr19:36630484-36630498 chr19:36630474-36630486
43	CHD2	chr19:36630455-36631186	K562	blood:	n/a	n/a
44	RELA	chr19:36630404-36631320	GM18951	blood:	n/a	n/a
45	TEAD4	chr19:36630232-36631918	K562	blood:	n/a	n/a
46	CTCF	chr19:36630640-36630790	HRPEpiC	eye:	n/a	n/a
47	TCF12	chr19:36630305-36632408	ECC-1	luminal epithelium:	n/a	n/a
48	FOXA1	chr19:36630742-36631113	T-47D	breast:	n/a	n/a
49	EBF1	chr19:36630594-36631084	GM12878	blood:	n/a	n/a
50	IRF4	chr19:36630410-36631072	GM12878	blood:	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	chr19:36630678..36632307-chr19:36642468..36644265,2	K562	blood:
4	chr19:36601521..36604291-chr19:36630338..36633807,8	MCF-7	breast:
5	chr17:80416314..80417083-chr19:36630660..36631409,2	Hela-S3	cervix:
6	chr19:36604617..36608522-chr19:36628102..36632329,9	MCF-7	breast:
7	chr19:36543201..36546500-chr19:36630161..36633757,3	MCF-7	breast:
8	chr19:36629466..36631434-chr19:38753724..38756328,2	MCF-7	breast:
9	chr19:36630278..36632151-chr19:36704046..36706551,3	MCF-7	breast:
10	chr19:36630602..36632414-chr19:38875371..38878496,3	MCF-7	breast:
11	chr19:36630683..36631317-chr22:43010387..43011247,2	Hela-S3	cervix:
12	chr19:36630466..36632159-chr19:36704253..36707369,3	K562	blood:
13	chr19:36543278..36547003-chr19:36629856..36633093,3	MCF-7	breast:
14	chr19:36604314..36608037-chr19:36629557..36633745,12	MCF-7	breast:
15	chr19:36629887..36633258-chr19:36704150..36708473,10	K562	blood:
16	chr19:36604026..36607708-chr19:36630473..36633466,10	K562	blood:
17	chr19:36604594..36608993-chr19:36628830..36633466,13	K562	blood:
18	chr19:36630769..36631425-chr3:57678429..57679174,2	Hela-S3	cervix:
19	chr19:36630738..36632299-chr19:36705733..36707758,2	MCF-7	breast:
20	chr19:36544655..36547364-chr19:36630776..36632492,2	K562	blood:
21	chr13:38923439..38924342-chr19:36630421..36631091,2	Hela-S3	cervix:

Variant related genes	Relation type
CAPNS1	TF binding region
ENSG00000241933	Chromatin interaction
ENSG00000105258	Chromatin interaction
ENSG00000167635	Chromatin interaction
ENSG00000174839	Chromatin interaction
ENSG00000266963	Chromatin interaction
ENSG00000196357	Chromatin interaction
ENSG00000141562	Chromatin interaction
ENSG00000197863	Chromatin interaction
ENSG00000105261	Chromatin interaction
ENSG00000265458	Chromatin interaction
ENSG00000161281	Chromatin interaction
ENSG00000100227	Chromatin interaction
ENSG00000105254	Chromatin interaction
ENSG00000120686	Chromatin interaction
ENSG00000251247	Chromatin interaction
ENSG00000167642	Chromatin interaction
ENSG00000075702	Chromatin interaction
ENSG00000161277	Chromatin interaction
ENSG00000267090	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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36630000-36630800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
2	chr19:36630000-36630800	Flanking Active TSS	Primary hematopoietic stem cells	blood
3	chr19:36630000-36630800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr19:36630000-36630800	Flanking Active TSS	HMEC	breast
5	chr19:36630000-36632200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr19:36630000-36632200	Active TSS	Brain Inferior Temporal Lobe	brain
7	chr19:36630200-36630800	Flanking Active TSS	Primary B cells from cord blood	blood
8	chr19:36630200-36630800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
9	chr19:36630200-36630800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
10	chr19:36630200-36630800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
11	chr19:36630200-36630800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr19:36630200-36630800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
13	chr19:36630200-36630800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
14	chr19:36630200-36630800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr19:36630200-36630800	Flanking Active TSS	Adipose Nuclei	Adipose
16	chr19:36630200-36630800	Flanking Active TSS	Dnd41	blood
17	chr19:36630200-36630800	Flanking Active TSS	HUVEC	blood vessel
18	chr19:36630200-36630800	Flanking Active TSS	NHEK	skin
19	chr19:36630200-36631800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
20	chr19:36630200-36631800	Bivalent/Poised TSS	HepG2	liver
21	chr19:36630200-36632200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr19:36630200-36632200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr19:36630200-36632200	Active TSS	Brain Anterior Caudate	brain
24	chr19:36630200-36632200	Active TSS	Brain Cingulate Gyrus	brain
25	chr19:36630200-36632200	Active TSS	Brain Hippocampus Middle	brain
26	chr19:36630200-36632200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
27	chr19:36630200-36632200	Active TSS	Colonic Mucosa	Colon
28	chr19:36630200-36632200	Active TSS	Colon Smooth Muscle	Colon
29	chr19:36630200-36632200	Active TSS	Duodenum Smooth Muscle	Duodenum
30	chr19:36630200-36632200	Active TSS	Fetal Lung	lung
31	chr19:36630200-36632200	Active TSS	Left Ventricle	heart
32	chr19:36630200-36632200	Active TSS	Psoas Muscle	Psoas
33	chr19:36630200-36632200	Active TSS	Rectal Mucosa Donor 31	rectum
34	chr19:36630200-36632200	Active TSS	Right Atrium	heart
35	chr19:36630200-36632200	Active TSS	Right Ventricle	heart
36	chr19:36630200-36632200	Active TSS	K562	blood
37	chr19:36630200-36632400	Active TSS	HUES6 Cell Line	embryonic stem cell
38	chr19:36630200-36632400	Active TSS	HUES64 Cell Line	embryonic stem cell
39	chr19:36630200-36632400	Active TSS	iPS-15b Cell Line	embryonic stem cell
40	chr19:36630200-36632400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr19:36630200-36632400	Active TSS	Primary T cells from cord blood	blood
42	chr19:36630200-36632400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr19:36630200-36632400	Active TSS	Aorta	Aorta
44	chr19:36630200-36632400	Active TSS	Fetal Brain Female	brain
45	chr19:36630200-36632400	Active TSS	Pancreatic Islets	Pancreatic Islet
46	chr19:36630200-36632600	Active TSS	H1 Cell Line	embryonic stem cell
47	chr19:36630200-36632600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr19:36630200-36632600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr19:36630200-36632600	Active TSS	iPS-20b Cell Line	embryonic stem cell
50	chr19:36630200-36632600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell

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