Variant report

Variant	rs191144264
Chromosome Location	chr19:35654288-35654289
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	EP300	chr19:35653666-35654378	ECC-1	luminal epithelium:	n/a	chr19:35654309-35654323
3	TEAD4	chr19:35653793-35654306	ECC-1	luminal epithelium:	n/a	n/a
4	POLR2A	chr19:35653555-35654292	K562	blood:	n/a	n/a
5	EP300	chr19:35653715-35654352	T-47D	breast:	n/a	chr19:35654309-35654323
6	STAT3	chr19:35653724-35654300	MCF10A-Er-Src	breast:	n/a	chr19:35653726-35653738
7	STAT3	chr19:35653748-35654294	MCF10A-Er-Src	breast:	n/a	n/a
8	TEAD4	chr19:35653728-35654361	HCT-116	colon:	n/a	n/a
9	POLR2A	chr19:35653744-35654343	HCT-116	colon:	n/a	n/a
10	SP1	chr19:35653605-35654398	HCT-116	colon:	n/a	chr19:35654351-35654365
11	SP1	chr19:35653535-35654456	HCT-116	colon:	n/a	chr19:35654351-35654365
12	GATA3	chr19:35653795-35654291	T-47D	breast:	n/a	n/a
13	POLR2A	chr19:35653631-35654432	U87	brain:	n/a	n/a
14	CBX3	chr19:35653333-35654362	HCT-116	colon:	n/a	n/a
15	MYC	chr19:35653842-35654317	MCF10A-Er-Src	breast:	n/a	n/a
16	TEAD4	chr19:35653765-35654311	ECC-1	luminal epithelium:	n/a	n/a
17	POLR2A	chr19:35653716-35654426	U87	brain:	n/a	n/a
18	MAX	chr19:35653507-35654428	HCT-116	colon:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:35654052..35658593-chr19:35736953..35742683,9	K562	blood:
2	chr19:35653699..35655552-chr19:35738412..35739992,2	K562	blood:
3	chr19:35653961..35658211-chr19:35756444..35760028,4	K562	blood:
4	chr19:35653961..35659020-chr19:35755691..35760689,8	K562	blood:

Variant related genes	Relation type
FXYD5	TF binding region
ENSG00000105698	Chromatin interaction
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:101 , 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	chr19:35647600-35655200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr19:35647800-35657000	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr19:35648000-35654800	Strong transcription	H9 Cell Line	embryonic stem cell
9	chr19:35648000-35655000	Strong transcription	Sigmoid Colon	Sigmoid Colon
10	chr19:35648000-35655200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr19:35648000-35661600	Strong transcription	H1 Cell Line	embryonic stem cell
12	chr19:35648000-35661800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr19:35648200-35656600	Strong transcription	Fetal Thymus	thymus
14	chr19:35648200-35662800	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr19:35648400-35657000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr19:35648600-35654600	Strong transcription	Muscle Satellite Cultured Cells	--
17	chr19:35649200-35657000	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr19:35649400-35655000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr19:35649400-35656400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr19:35649400-35656800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr19:35649400-35657400	Strong transcription	Primary T killer memory cells from peripheral blood	blood
22	chr19:35650000-35656600	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr19:35650200-35654800	Strong transcription	Gastric	stomach
24	chr19:35650400-35655800	Strong transcription	Duodenum Mucosa	Duodenum
25	chr19:35650600-35654400	Weak transcription	Fetal Muscle Trunk	muscle
26	chr19:35650600-35655400	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr19:35650800-35655000	Weak transcription	Fetal Intestine Large	intestine
28	chr19:35650800-35656600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
29	chr19:35651800-35657000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
30	chr19:35651800-35657000	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr19:35652000-35657400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr19:35652000-35657600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
33	chr19:35652000-35661800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
34	chr19:35652200-35655600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr19:35652200-35657800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr19:35652200-35657800	ZNF genes & repeats	Stomach Smooth Muscle	stomach
37	chr19:35652200-35658000	ZNF genes & repeats	GM12878-XiMat	blood
38	chr19:35652200-35658200	ZNF genes & repeats	A549	lung
39	chr19:35652400-35654400	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr19:35652400-35655600	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
41	chr19:35652400-35655600	ZNF genes & repeats	Aorta	Aorta
42	chr19:35652400-35655600	ZNF genes & repeats	Left Ventricle	heart
43	chr19:35652400-35655600	ZNF genes & repeats	HSMM	muscle
44	chr19:35652400-35656200	ZNF genes & repeats	NH-A	brain
45	chr19:35652400-35657400	ZNF genes & repeats	Primary B cells from cord blood	blood
46	chr19:35652400-35657800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr19:35652400-35658400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
48	chr19:35652400-35658400	ZNF genes & repeats	Lung	lung
49	chr19:35652400-35658600	ZNF genes & repeats	Placenta	Placenta
50	chr19:35652600-35657400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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