Variant report

Variant	rs560513874
Chromosome Location	chr19:41771616-41771617
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	UBTF	chr19:41769980-41772007	K562	blood:	n/a	n/a
2	POLR2A	chr19:41768085-41771893	GM19193	blood:	n/a	n/a
3	TBP	chr19:41768989-41772071	K562	blood:	n/a	n/a
4	MTA3	chr19:41768794-41771880	GM12878	blood:	n/a	n/a
5	JUND	chr19:41768915-41772213	A549	lung:	n/a	chr19:41770714-41770723 chr19:41769880-41769889 chr19:41769949-41769961 chr19:41770306-41770315 chr19:41770166-41770175 chr19:41769082-41769093
6	ELF1	chr19:41769569-41771653	GM12878	blood:	n/a	chr19:41770081-41770093 chr19:41770286-41770295 chr19:41770719-41770731 chr19:41770262-41770274
7	POLR2A	chr19:41767388-41771764	U87	brain:	n/a	n/a
8	POLR2A	chr19:41768106-41771857	GM18505	blood:	n/a	n/a
9	POLR2A	chr19:41768798-41772064	PANC-1	pancreas:	n/a	n/a
10	POLR2A	chr19:41767678-41771748	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr19:41767844-41772185	SK-N-MC	brain:	n/a	n/a
12	SIN3A	chr19:41771575-41771618	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr19:41768047-41772143	H1-hESC	embryonic stem cell:	n/a	n/a
14	PML	chr19:41767871-41771809	GM12878	blood:	n/a	n/a
15	POLR2A	chr19:41771361-41771726	HCT-116	colon:	n/a	n/a
16	MAZ	chr19:41767177-41772220	IMR90	lung:	n/a	chr19:41768441-41768450 chr19:41768481-41768490 chr19:41771759-41771769 chr19:41768482-41768493 chr19:41770252-41770262
17	SIN3AK20	chr19:41768779-41772033	A549	lung:	n/a	n/a
18	HEY1	chr19:41768984-41772078	HepG2	liver:	n/a	chr19:41770714-41770729 chr19:41770719-41770734 chr19:41770075-41770090 chr19:41770716-41770731
19	POLR2A	chr19:41767879-41773979	GM12878	blood:	n/a	n/a
20	MAZ	chr19:41769488-41771971	K562	blood:	n/a	chr19:41771759-41771769 chr19:41770252-41770262
21	TCF12	chr19:41767598-41772879	A549	lung:	n/a	chr19:41771163-41771170
22	RCOR1	chr19:41771482-41771708	HepG2	liver:	n/a	n/a
23	MYC	chr19:41768870-41772037	A549	lung:	n/a	chr19:41771759-41771769 chr19:41770252-41770262
24	POLR2A	chr19:41769132-41771816	HepG2	liver:	n/a	n/a
25	POLR2A	chr19:41771343-41771744	HepG2	liver:	n/a	n/a
26	POLR2A	chr19:41768732-41772047	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr19:41766822-41772154	IMR90	lung:	n/a	n/a
28	POLR2A	chr19:41771576-41772037	K562	blood:	n/a	n/a
29	POLR2A	chr19:41766581-41772173	U87	brain:	n/a	n/a
30	POLR2A	chr19:41768010-41771848	GM12878	blood:	n/a	n/a
31	JUN	chr19:41771542-41771751	HepG2	liver:	n/a	n/a
32	FOSL2	chr19:41767461-41772092	A549	lung:	n/a	chr19:41770714-41770723 chr19:41769880-41769889 chr19:41769949-41769961 chr19:41770306-41770315 chr19:41770166-41770175 chr19:41769082-41769093 chr19:41768151-41768159
33	TAF1	chr19:41768781-41771895	A549	lung:	n/a	n/a
34	POLR2A	chr19:41768144-41772381	HepG2	liver:	n/a	n/a
35	POLR2A	chr19:41769862-41771661	GM12878	blood:	n/a	n/a
36	POLR2A	chr19:41768004-41771921	GM12891	blood:	n/a	n/a
37	POLR2A	chr19:41768099-41772039	MCF10A-Er-Src	breast:	n/a	n/a
38	MXI1	chr19:41767723-41772046	SK-N-SH	brain:	n/a	chr19:41770147-41770162
39	CHD1	chr19:41768122-41771697	GM12878	blood:	n/a	chr19:41770254-41770264 chr19:41768452-41768462
40	POLR2A	chr19:41768086-41772048	GM12892	blood:	n/a	n/a
41	POLR2A	chr19:41769931-41771879	GM12891	blood:	n/a	n/a
42	CTCF	chr19:41766421-41772168	A549	lung:	n/a	chr19:41768327-41768345 chr19:41769790-41769803 chr19:41768328-41768344
43	POLR2A	chr19:41768826-41772140	HL-60	blood:	n/a	n/a
44	POLR2A	chr19:41771588-41771821	H1-hESC	embryonic stem cell:	n/a	n/a
45	PBX3	chr19:41768870-41771649	A549	lung:	n/a	chr19:41770167-41770176
46	HEY1	chr19:41771256-41772103	K562	blood:	n/a	n/a
47	SP1	chr19:41767683-41771936	A549	lung:	n/a	chr19:41770157-41770178 chr19:41770908-41770917 chr19:41771123-41771132 chr19:41769743-41769755 chr19:41770714-41770726 chr19:41771119-41771133 chr19:41770051-41770065 chr19:41770903-41770917 chr19:41770906-41770918 chr19:41768450-41768461 chr19:41769814-41769835 chr19:41770716-41770725 chr19:41770902-41770915 chr19:41768450-41768462 chr19:41768451-41768461 chr19:41770907-41770917 chr19:41768452-41768461 chr19:41769745-41769754 chr19:41768447-41768461 chr19:41770907-41770916 chr19:41770050-41770062 chr19:41770714-41770726 chr19:41768451-41768460 chr19:41768452-41768461 chr19:41770715-41770724 chr19:41768450-41768462 chr19:41770906-41770918
48	TEAD4	chr19:41771445-41771942	K562	blood:	n/a	n/a
49	BCL3	chr19:41767350-41772062	A549	lung:	n/a	chr19:41770820-41770833 chr19:41769404-41769417 chr19:41770075-41770084 chr19:41768447-41768460 chr19:41770716-41770725 chr19:41771949-41771957
50	POLR2A	chr19:41768088-41772099	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:41766631..41773289-chr19:41812153..41817614,9	K562	blood:
2	chr19:41703762..41708765-chr19:41768363..41772371,6	MCF-7	breast:
3	chr19:41770083..41771772-chr19:41780839..41782366,2	MCF-7	breast:
4	chr19:41769421..41772801-chr19:41806181..41809917,4	MCF-7	breast:
5	chr19:41726065..41727668-chr19:41770273..41771927,2	K562	blood:
6	chr19:41307021..41309215-chr19:41770332..41772001,2	MCF-7	breast:
7	chr19:41770477..41773138-chr19:41858876..41861675,2	MCF-7	breast:
8	chr19:41768451..41772660-chr19:41814640..41817683,6	MCF-7	breast:
9	chr19:41767589..41772847-chr19:41812402..41817981,15	MCF-7	breast:

Variant related genes	Relation type
HNRNPUL1	TF binding region
ENSG00000269858	Chromatin interaction
ENSG00000167601	Chromatin interaction
ENSG00000142046	Chromatin interaction
ENSG00000105323	Chromatin interaction
ENSG00000167600	Chromatin interaction
ENSG00000105329	Chromatin interaction
ENSG00000268797	Chromatin interaction
ENSG00000142039	Chromatin interaction

Extended variants
information (count: 1 )
Associated
traits (count: 0)

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv17637	chr19:41770228-41815282	Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 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	chr19:41767400-41772400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr19:41767600-41771800	Active TSS	Right Ventricle	heart
3	chr19:41767600-41772200	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr19:41767600-41772200	Active TSS	Psoas Muscle	Psoas
5	chr19:41767600-41772400	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr19:41767600-41772400	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr19:41767800-41771800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr19:41767800-41771800	Active TSS	Fetal Kidney	kidney
9	chr19:41767800-41772000	Active TSS	Aorta	Aorta
10	chr19:41767800-41772200	Active TSS	Esophagus	oesophagus
11	chr19:41767800-41772200	Active TSS	Lung	lung
12	chr19:41767800-41772400	Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr19:41767800-41772400	Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr19:41767800-41772400	Active TSS	Right Atrium	heart
15	chr19:41767800-41772600	Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr19:41767800-41773200	Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr19:41768000-41771800	Active TSS	Fetal Intestine Large	intestine
18	chr19:41768000-41772000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr19:41768000-41772000	Active TSS	Gastric	stomach
20	chr19:41768000-41772200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr19:41768000-41772200	Active TSS	Ovary	ovary
22	chr19:41768000-41772400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr19:41768000-41772400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr19:41768000-41772400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
25	chr19:41768000-41772400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr19:41768000-41772400	Active TSS	HSMMtube	muscle
27	chr19:41768000-41772600	Active TSS	H9 Cell Line	embryonic stem cell
28	chr19:41768200-41771800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr19:41768200-41771800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr19:41768200-41771800	Active TSS	Muscle Satellite Cultured Cells	--
31	chr19:41768200-41771800	Active TSS	NHEK	skin
32	chr19:41768200-41772200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr19:41768200-41772200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr19:41768200-41772400	Active TSS	HUES6 Cell Line	embryonic stem cell
35	chr19:41768200-41772400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr19:41768200-41772400	Active TSS	Fetal Intestine Small	intestine
37	chr19:41768200-41772400	Active TSS	Rectal Mucosa Donor 29	rectum
38	chr19:41768200-41772400	Active TSS	Hela-S3	cervix
39	chr19:41768200-41772400	Active TSS	K562	blood
40	chr19:41768200-41772400	Active TSS	NHDF-Ad	bronchial
41	chr19:41768400-41772000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr19:41768400-41772400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr19:41768600-41772400	Active TSS	GM12878-XiMat	blood
44	chr19:41768800-41771800	Active TSS	Fetal Muscle Trunk	muscle
45	chr19:41769600-41771800	Active TSS	Primary T helper cells PMA-I stimulated	--
46	chr19:41769600-41772000	Active TSS	Osteobl	bone
47	chr19:41769600-41772400	Active TSS	HSMM	muscle
48	chr19:41769600-41772400	Active TSS	NHLF	lung
49	chr19:41770200-41772000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
50	chr19:41770200-41772000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood

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