Variant report

Variant	rs28537728
Chromosome Location	chr19:36630167-36630168
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	POLR2A	chr19:36630078-36631946	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr19:36630093-36632455	U87	brain:	n/a	n/a
3	POLR2A	chr19:36630161-36631899	U87	brain:	n/a	n/a
4	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
5	FOXA2	chr19:36630100-36631236	A549	lung:	n/a	chr19:36630288-36630300
6	ELF1	chr19:36630150-36631077	K562	blood:	n/a	chr19:36630978-36630990
7	PBX3	chr19:36630079-36632738	A549	lung:	n/a	chr19:36632485-36632494
8	FOSL2	chr19:36630035-36631803	A549	lung:	n/a	chr19:36630966-36630974 chr19:36630965-36630975 chr19:36630965-36630975 chr19:36630556-36630567
9	FOXA2	chr19:36629967-36631229	A549	lung:	n/a	chr19:36630288-36630300
10	BCL3	chr19:36630064-36632006	A549	lung:	n/a	chr19:36631344-36631353 chr19:36630417-36630426
11	ZMIZ1	chr19:36630093-36631221	K562	blood:	n/a	n/a
12	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
13	REST	chr19:36629974-36631946	A549	lung:	n/a	chr19:36631010-36631020 chr19:36631084-36631094 chr19:36630483-36630493
14	ETS1	chr19:36629981-36631986	A549	lung:	n/a	chr19:36630417-36630428 chr19:36631013-36631026
15	EP300	chr19:36630071-36631981	A549	lung:	n/a	chr19:36631109-36631125 chr19:36630980-36630996 chr19:36630454-36630470
16	POLR2A	chr19:36630079-36631947	HCT-116	colon:	n/a	n/a
17	MAZ	chr19:36630156-36632398	IMR90	lung:	n/a	chr19:36630977-36630987
18	JUND	chr19:36630136-36631413	A549	lung:	n/a	chr19:36630966-36630974 chr19:36630965-36630975 chr19:36630965-36630975 chr19:36630964-36630975 chr19:36630556-36630567
19	SIX5	chr19:36629867-36631943	A549	lung:	n/a	chr19:36631724-36631740 chr19:36631724-36631740 chr19:36631724-36631740 chr19:36631724-36631740
20	POLR2A	chr19:36630087-36632025	U87	brain:	n/a	n/a
21	CBX3	chr19:36630127-36631153	K562	blood:	n/a	n/a
22	MTA3	chr19:36630124-36632003	GM12878	blood:	n/a	n/a
23	HEY1	chr19:36630131-36631509	HepG2	liver:	n/a	chr19:36630449-36630464
24	RCOR1	chr19:36630079-36631169	K562	blood:	n/a	n/a
25	TAF1	chr19:36630132-36631904	A549	lung:	n/a	n/a
26	ZBTB33	chr19:36630103-36631793	A549	lung:	n/a	chr19:36630597-36630606 chr19:36630951-36630960
27	MAX	chr19:36630096-36632700	A549	lung:	n/a	chr19:36630977-36630987
28	CEBPB	chr19:36630085-36631426	A549	lung:	n/a	n/a
29	SP1	chr19:36630149-36631353	HCT-116	colon:	n/a	chr19:36630422-36630432 chr19:36630833-36630845 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
30	POLR2A	chr19:36630157-36632830	K562	blood:	n/a	n/a
31	POLR2A	chr19:36629805-36630252	HepG2	liver:	n/a	n/a
32	BCL3	chr19:36630076-36631337	A549	lung:	n/a	chr19:36630417-36630426
33	TCF12	chr19:36630132-36631946	A549	lung:	n/a	n/a
34	PBX3	chr19:36630133-36632889	A549	lung:	n/a	chr19:36632485-36632494
35	REST	chr19:36630079-36632549	H1-neurons	neurons:	n/a	chr19:36632183-36632196 chr19:36631010-36631020 chr19:36631084-36631094 chr19:36630483-36630493
36	ZBTB7A	chr19:36630162-36631221	ECC-1	luminal epithelium:	n/a	n/a
37	POLR2A	chr19:36630060-36632977	PANC-1	pancreas:	n/a	n/a
38	POLR2A	chr19:36630040-36632087	PFSK-1	brain:	n/a	n/a
39	E2F6	chr19:36630103-36632137	A549	lung:	n/a	chr19:36630452-36630461 chr19:36630881-36630890 chr19:36631104-36631111
40	EP300	chr19:36629988-36631941	A549	lung:	n/a	chr19:36631109-36631125 chr19:36630980-36630996 chr19:36630454-36630470
41	NR2F2	chr19:36630030-36631988	K562	blood:	n/a	n/a
42	TCF12	chr19:36629896-36631985	A549	lung:	n/a	n/a
43	SIN3AK20	chr19:36630087-36631903	A549	lung:	n/a	n/a
44	MAX	chr19:36630065-36632838	A549	lung:	n/a	chr19:36630977-36630987
45	POLR2A	chr19:36629975-36632762	PANC-1	pancreas:	n/a	n/a
46	POLR2A	chr19:36630131-36632543	HL-60	blood:	n/a	n/a
47	RCOR1	chr19:36630142-36630973	K562	blood:	n/a	n/a
48	TRIM28	chr19:36630167-36631159	K562	blood:	n/a	chr19:36630967-36630976
49	POLR2A	chr19:36630075-36632522	PFSK-1	brain:	n/a	n/a
50	ELF1	chr19:36630160-36632375	GM12878	blood:	n/a	chr19:36630978-36630990

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	chr19:36604617..36608522-chr19:36628102..36632329,9	MCF-7	breast:
4	chr19:36543201..36546500-chr19:36630161..36633757,3	MCF-7	breast:
5	chr19:36629466..36631434-chr19:38753724..38756328,2	MCF-7	breast:
6	chr19:36543278..36547003-chr19:36629856..36633093,3	MCF-7	breast:
7	chr19:36604314..36608037-chr19:36629557..36633745,12	MCF-7	breast:
8	chr19:36628146..36630638-chr19:37017222..37019646,2	K562	blood:
9	chr19:36629887..36633258-chr19:36704150..36708473,10	K562	blood:
10	chr19:36604594..36608993-chr19:36628830..36633466,13	K562	blood:

Variant related genes	Relation type
CAPNS1	TF binding region
ENSG00000105254	Chromatin interaction
ENSG00000105258	Chromatin interaction
ENSG00000161277	Chromatin interaction
ENSG00000251247	Chromatin interaction
ENSG00000167635	Chromatin interaction
ENSG00000167642	Chromatin interaction
ENSG00000228629	Chromatin interaction
ENSG00000266963	Chromatin interaction
ENSG00000196357	Chromatin interaction
ENSG00000075702	Chromatin interaction
ENSG00000197863	Chromatin interaction
ENSG00000254004	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:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36619600-36630200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr19:36619800-36630200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr19:36623600-36630200	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr19:36623600-36630200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr19:36623800-36630400	Weak transcription	Lung	lung
6	chr19:36624000-36630200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr19:36624200-36630200	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr19:36626600-36630200	Weak transcription	Right Ventricle	heart
9	chr19:36626600-36630400	Weak transcription	Esophagus	oesophagus
10	chr19:36626600-36630400	Weak transcription	Gastric	stomach
11	chr19:36628000-36630200	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr19:36628000-36630200	Weak transcription	Brain Cingulate Gyrus	brain
13	chr19:36628000-36630200	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr19:36628000-36630200	Weak transcription	Left Ventricle	heart
15	chr19:36628000-36630400	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr19:36628200-36630200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr19:36628200-36630200	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr19:36628200-36630200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr19:36628200-36630200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr19:36628200-36630200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr19:36628200-36630200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr19:36628200-36630200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr19:36628200-36630200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr19:36628200-36630200	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr19:36628200-36630200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr19:36628200-36630200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr19:36628200-36630200	Weak transcription	Adipose Nuclei	Adipose
28	chr19:36628200-36630200	Weak transcription	Liver	Liver
29	chr19:36628200-36630200	Weak transcription	Brain Hippocampus Middle	brain
30	chr19:36628200-36630200	Weak transcription	Colonic Mucosa	Colon
31	chr19:36628200-36630200	Weak transcription	Colon Smooth Muscle	Colon
32	chr19:36628200-36630200	Weak transcription	Fetal Intestine Large	intestine
33	chr19:36628200-36630200	Weak transcription	Placenta	Placenta
34	chr19:36628200-36630200	Weak transcription	Pancreas	Pancrea
35	chr19:36628200-36630200	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr19:36628200-36630200	Weak transcription	Psoas Muscle	Psoas
37	chr19:36628200-36630200	Weak transcription	Rectal Smooth Muscle	rectum
38	chr19:36628200-36630200	Weak transcription	Right Atrium	heart
39	chr19:36628200-36630200	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr19:36628200-36630200	Enhancers	Hela-S3	cervix
41	chr19:36628200-36630200	Weak transcription	HSMM	muscle
42	chr19:36628200-36630200	Weak transcription	HSMMtube	muscle
43	chr19:36628200-36630200	Weak transcription	K562	blood
44	chr19:36628200-36630200	Weak transcription	NHLF	lung
45	chr19:36628200-36630400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr19:36628200-36630400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr19:36628200-36630400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr19:36628200-36630400	Weak transcription	Spleen	Spleen
49	chr19:36628400-36630200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr19:36628400-36630200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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