Variant report

Variant	rs187024710
Chromosome Location	chr19:41771490-41771491
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	EP300	chr19:41771337-41771500	HepG2	liver:	n/a	n/a
2	UBTF	chr19:41769980-41772007	K562	blood:	n/a	n/a
3	POLR2A	chr19:41768085-41771893	GM19193	blood:	n/a	n/a
4	TBP	chr19:41768989-41772071	K562	blood:	n/a	n/a
5	MTA3	chr19:41768794-41771880	GM12878	blood:	n/a	n/a
6	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
7	ELF1	chr19:41769569-41771653	GM12878	blood:	n/a	chr19:41770081-41770093 chr19:41770286-41770295 chr19:41770719-41770731 chr19:41770262-41770274
8	POLR2A	chr19:41767388-41771764	U87	brain:	n/a	n/a
9	POLR2A	chr19:41768726-41771510	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr19:41768106-41771857	GM18505	blood:	n/a	n/a
11	POLR2A	chr19:41768798-41772064	PANC-1	pancreas:	n/a	n/a
12	POLR2A	chr19:41767678-41771748	Hela-S3	cervix:	n/a	n/a
13	YY1	chr19:41768901-41771505	A549	lung:	n/a	chr19:41770267-41770276 chr19:41770722-41770733 chr19:41770274-41770282 chr19:41770270-41770282 chr19:41770271-41770281 chr19:41770262-41770276 chr19:41771123-41771134 chr19:41770271-41770293 chr19:41770712-41770726
14	POLR2A	chr19:41767844-41772185	SK-N-MC	brain:	n/a	n/a
15	POLR2A	chr19:41768047-41772143	H1-hESC	embryonic stem cell:	n/a	n/a
16	MAX	chr19:41768815-41771564	A549	lung:	n/a	chr19:41770252-41770262
17	PML	chr19:41767871-41771809	GM12878	blood:	n/a	n/a
18	POLR2A	chr19:41771361-41771726	HCT-116	colon:	n/a	n/a
19	MAZ	chr19:41767177-41772220	IMR90	lung:	n/a	chr19:41768441-41768450 chr19:41768481-41768490 chr19:41771759-41771769 chr19:41768482-41768493 chr19:41770252-41770262
20	SIN3AK20	chr19:41768779-41772033	A549	lung:	n/a	n/a
21	HEY1	chr19:41768984-41772078	HepG2	liver:	n/a	chr19:41770714-41770729 chr19:41770719-41770734 chr19:41770075-41770090 chr19:41770716-41770731
22	POLR2A	chr19:41767879-41773979	GM12878	blood:	n/a	n/a
23	MAZ	chr19:41769488-41771971	K562	blood:	n/a	chr19:41771759-41771769 chr19:41770252-41770262
24	TCF12	chr19:41767598-41772879	A549	lung:	n/a	chr19:41771163-41771170
25	POLR2A	chr19:41768105-41771501	MCF-7	breast:	n/a	n/a
26	RCOR1	chr19:41771482-41771708	HepG2	liver:	n/a	n/a
27	MAX	chr19:41771353-41771496	HepG2	liver:	n/a	n/a
28	POLR2A	chr19:41768087-41771614	GM12878	blood:	n/a	n/a
29	MYC	chr19:41768870-41772037	A549	lung:	n/a	chr19:41771759-41771769 chr19:41770252-41770262
30	POLR2A	chr19:41769132-41771816	HepG2	liver:	n/a	n/a
31	POLR2A	chr19:41771343-41771744	HepG2	liver:	n/a	n/a
32	POLR2A	chr19:41768732-41772047	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr19:41766822-41772154	IMR90	lung:	n/a	n/a
34	POLR2A	chr19:41766581-41772173	U87	brain:	n/a	n/a
35	POLR2A	chr19:41768010-41771848	GM12878	blood:	n/a	n/a
36	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
37	TBL1XR1	chr19:41771377-41771490	GM12878	blood:	n/a	n/a
38	TAF1	chr19:41768781-41771895	A549	lung:	n/a	n/a
39	POLR2A	chr19:41768793-41771577	GM12892	blood:	n/a	n/a
40	STAT5A	chr19:41770020-41771539	GM12878	blood:	n/a	chr19:41770309-41770321 chr19:41770255-41770267
41	POLR2A	chr19:41768144-41772381	HepG2	liver:	n/a	n/a
42	POLR2A	chr19:41769862-41771661	GM12878	blood:	n/a	n/a
43	POLR2A	chr19:41768004-41771921	GM12891	blood:	n/a	n/a
44	POLR2A	chr19:41768099-41772039	MCF10A-Er-Src	breast:	n/a	n/a
45	MXI1	chr19:41767723-41772046	SK-N-SH	brain:	n/a	chr19:41770147-41770162
46	CHD1	chr19:41768122-41771697	GM12878	blood:	n/a	chr19:41770254-41770264 chr19:41768452-41768462
47	POLR2A	chr19:41768086-41772048	GM12892	blood:	n/a	n/a
48	RELA	chr19:41768968-41771521	GM12891	blood:	n/a	n/a
49	POLR2A	chr19:41769931-41771879	GM12891	blood:	n/a	n/a
50	CTCF	chr19:41766421-41772168	A549	lung:	n/a	chr19:41768327-41768345 chr19:41769790-41769803 chr19:41768328-41768344

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	chr19:41219692..41221966-chr19:41769353..41771568,2	MCF-7	breast:
5	chr19:41769421..41772801-chr19:41806181..41809917,4	MCF-7	breast:
6	chr19:41726065..41727668-chr19:41770273..41771927,2	K562	blood:
7	chr19:41769787..41771602-chr19:41823393..41825966,2	MCF-7	breast:
8	chr19:41307021..41309215-chr19:41770332..41772001,2	MCF-7	breast:
9	chr19:41769462..41771518-chr9:139890234..139892822,2	MCF-7	breast:
10	chr19:41770477..41773138-chr19:41858876..41861675,2	MCF-7	breast:
11	chr19:41768451..41772660-chr19:41814640..41817683,6	MCF-7	breast:
12	chr19:41767589..41772847-chr19:41812402..41817981,15	MCF-7	breast:
13	chr11:85955487..85956419-chr19:41770952..41771539,2	Hela-S3	cervix:

Variant related genes	Relation type
HNRNPUL1	TF binding region
ENSG00000269858	Chromatin interaction
ENSG00000142046	Chromatin interaction
ENSG00000268797	Chromatin interaction
ENSG00000105329	Chromatin interaction
ENSG00000074266	Chromatin interaction
ENSG00000167600	Chromatin interaction
ENSG00000123815	Chromatin interaction
ENSG00000105323	Chromatin interaction
ENSG00000142039	Chromatin interaction
ENSG00000167601	Chromatin interaction
ENSG00000169583	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	chr19:41768000-41771600	Active TSS	Cortex derived primary cultured neurospheres	brain
18	chr19:41768000-41771600	Active TSS	Placenta	Placenta
19	chr19:41768000-41771600	Active TSS	Left Ventricle	heart
20	chr19:41768000-41771600	Active TSS	Rectal Smooth Muscle	rectum
21	chr19:41768000-41771600	Active TSS	Sigmoid Colon	Sigmoid Colon
22	chr19:41768000-41771800	Active TSS	Fetal Intestine Large	intestine
23	chr19:41768000-41772000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr19:41768000-41772000	Active TSS	Gastric	stomach
25	chr19:41768000-41772200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr19:41768000-41772200	Active TSS	Ovary	ovary
27	chr19:41768000-41772400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr19:41768000-41772400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr19:41768000-41772400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
30	chr19:41768000-41772400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr19:41768000-41772400	Active TSS	HSMMtube	muscle
32	chr19:41768000-41772600	Active TSS	H9 Cell Line	embryonic stem cell
33	chr19:41768200-41771600	Active TSS	H1 Cell Line	embryonic stem cell
34	chr19:41768200-41771600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
35	chr19:41768200-41771600	Active TSS	Primary T helper naive cells from peripheral blood	blood
36	chr19:41768200-41771600	Active TSS	Brain Substantia Nigra	brain
37	chr19:41768200-41771600	Active TSS	Duodenum Mucosa	Duodenum
38	chr19:41768200-41771600	Active TSS	Fetal Lung	lung
39	chr19:41768200-41771600	Active TSS	Pancreas	Pancrea
40	chr19:41768200-41771600	Active TSS	Stomach Mucosa	stomach
41	chr19:41768200-41771600	Active TSS	HMEC	breast
42	chr19:41768200-41771600	Active TSS	NH-A	brain
43	chr19:41768200-41771800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr19:41768200-41771800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr19:41768200-41771800	Active TSS	Muscle Satellite Cultured Cells	--
46	chr19:41768200-41771800	Active TSS	NHEK	skin
47	chr19:41768200-41772200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr19:41768200-41772200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr19:41768200-41772400	Active TSS	HUES6 Cell Line	embryonic stem cell
50	chr19:41768200-41772400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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