Variant report

Variant	rs527445506
Chromosome Location	chr19:35653947-35653948
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	CBX3	chr19:35653272-35654371	HCT-116	colon:	n/a	n/a
2	MAFK	chr19:35653676-35653948	HepG2	liver:	n/a	chr19:35653783-35653798 chr19:35653776-35653791
3	ESR1	chr19:35653903-35654208	T-47D	breast:	n/a	n/a
4	EP300	chr19:35653666-35654378	ECC-1	luminal epithelium:	n/a	chr19:35654309-35654323
5	STAT3	chr19:35653740-35654259	MCF10A-Er-Src	breast:	n/a	n/a
6	MAFK	chr19:35653655-35653966	HepG2	liver:	n/a	chr19:35653783-35653798 chr19:35653776-35653791
7	EP300	chr19:35653824-35654287	T-47D	breast:	n/a	n/a
8	TEAD4	chr19:35653793-35654306	ECC-1	luminal epithelium:	n/a	n/a
9	POLR2A	chr19:35653555-35654292	K562	blood:	n/a	n/a
10	FOXA1	chr19:35653795-35654263	T-47D	breast:	n/a	n/a
11	POLR2A	chr19:35653774-35654018	Hela-S3	cervix:	n/a	n/a
12	YY1	chr19:35653817-35654228	HCT-116	colon:	n/a	n/a
13	EP300	chr19:35653715-35654352	T-47D	breast:	n/a	chr19:35654309-35654323
14	STAT3	chr19:35653724-35654300	MCF10A-Er-Src	breast:	n/a	chr19:35653726-35653738
15	STAT3	chr19:35653748-35654294	MCF10A-Er-Src	breast:	n/a	n/a
16	CTCF	chr19:35653800-35653950	HepG2	liver:	n/a	n/a
17	FOS	chr19:35653875-35654184	MCF10A-Er-Src	breast:	n/a	n/a
18	TEAD4	chr19:35653728-35654361	HCT-116	colon:	n/a	n/a
19	POLR2A	chr19:35653744-35654343	HCT-116	colon:	n/a	n/a
20	SP1	chr19:35653605-35654398	HCT-116	colon:	n/a	chr19:35654351-35654365
21	SP1	chr19:35653535-35654456	HCT-116	colon:	n/a	chr19:35654351-35654365
22	MAFK	chr19:35653735-35653959	IMR90	lung:	n/a	chr19:35653783-35653798 chr19:35653776-35653791
23	GATA3	chr19:35653795-35654291	T-47D	breast:	n/a	n/a
24	MAFK	chr19:35653638-35653957	K562	blood:	n/a	chr19:35653783-35653798 chr19:35653776-35653791
25	YY1	chr19:35653893-35654116	HCT-116	colon:	n/a	n/a
26	GATA3	chr19:35653777-35654239	T-47D	breast:	n/a	n/a
27	POLR2A	chr19:35653631-35654432	U87	brain:	n/a	n/a
28	FOS	chr19:35653772-35654255	MCF10A-Er-Src	breast:	n/a	n/a
29	CBX3	chr19:35653333-35654362	HCT-116	colon:	n/a	n/a
30	FOS	chr19:35653742-35654255	MCF10A-Er-Src	breast:	n/a	n/a
31	MYC	chr19:35653842-35654317	MCF10A-Er-Src	breast:	n/a	n/a
32	TEAD4	chr19:35653765-35654311	ECC-1	luminal epithelium:	n/a	n/a
33	MAFF	chr19:35653666-35653952	HepG2	liver:	n/a	chr19:35653781-35653799
34	POLR2A	chr19:35653716-35654426	U87	brain:	n/a	n/a
35	FOS	chr19:35653831-35654179	MCF10A-Er-Src	breast:	n/a	n/a
36	TEAD4	chr19:35653785-35654250	HCT-116	colon:	n/a	n/a
37	RCOR1	chr19:35653863-35654064	K562	blood:	n/a	n/a
38	POLR2A	chr19:35653689-35654258	U87	brain:	n/a	n/a
39	MAX	chr19:35653507-35654428	HCT-116	colon:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:35653699..35655552-chr19:35738412..35739992,2	K562	blood:

Variant related genes	Relation type
FXYD5	TF binding region
ENSG00000105699	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv911616	chr19:35577870-35669071	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
3	esv2757694	chr19:35653642-35673333	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	esv2758757	chr19:35653642-35673333	Genic enhancers Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:35646400-35655000	Weak transcription	Brain Angular Gyrus	brain
2	chr19:35646600-35656800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr19:35646800-35655000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr19:35647000-35654800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr19:35647000-35654800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr19:35647600-35654200	Strong transcription	NHLF	lung
7	chr19:35647600-35655200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr19:35647800-35657000	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr19:35648000-35654200	Strong transcription	Primary hematopoietic stem cells	blood
10	chr19:35648000-35654800	Strong transcription	H9 Cell Line	embryonic stem cell
11	chr19:35648000-35655000	Strong transcription	Sigmoid Colon	Sigmoid Colon
12	chr19:35648000-35655200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr19:35648000-35661600	Strong transcription	H1 Cell Line	embryonic stem cell
14	chr19:35648000-35661800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr19:35648200-35654000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
16	chr19:35648200-35656600	Strong transcription	Fetal Thymus	thymus
17	chr19:35648200-35662800	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr19:35648400-35654000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr19:35648400-35657000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr19:35648600-35654600	Strong transcription	Muscle Satellite Cultured Cells	--
21	chr19:35649200-35657000	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr19:35649400-35655000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr19:35649400-35656400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr19:35649400-35656800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr19:35649400-35657400	Strong transcription	Primary T killer memory cells from peripheral blood	blood
26	chr19:35650000-35656600	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr19:35650200-35654000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr19:35650200-35654800	Strong transcription	Gastric	stomach
29	chr19:35650400-35655800	Strong transcription	Duodenum Mucosa	Duodenum
30	chr19:35650600-35654400	Weak transcription	Fetal Muscle Trunk	muscle
31	chr19:35650600-35655400	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr19:35650800-35655000	Weak transcription	Fetal Intestine Large	intestine
33	chr19:35650800-35656600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
34	chr19:35651800-35654200	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr19:35651800-35657000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
36	chr19:35651800-35657000	Strong transcription	Rectal Mucosa Donor 29	rectum
37	chr19:35652000-35657400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr19:35652000-35657600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
39	chr19:35652000-35661800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
40	chr19:35652200-35654200	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
41	chr19:35652200-35654200	ZNF genes & repeats	Thymus	Thymus
42	chr19:35652200-35655600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr19:35652200-35657800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr19:35652200-35657800	ZNF genes & repeats	Stomach Smooth Muscle	stomach
45	chr19:35652200-35658000	ZNF genes & repeats	GM12878-XiMat	blood
46	chr19:35652200-35658200	ZNF genes & repeats	A549	lung
47	chr19:35652400-35654000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr19:35652400-35654200	ZNF genes & repeats	Adipose Nuclei	Adipose
49	chr19:35652400-35654400	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr19:35652400-35655600	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood

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