Variant report

Variant	rs113333979
Chromosome Location	chr19:36627792-36627793
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	chr19:36627753-36628267	Hela-S3	cervix:	n/a	n/a
2	GATA3	chr19:36627657-36628485	MCF-7	breast:	n/a	n/a
3	MAX	chr19:36627735-36628349	ECC-1	luminal epithelium:	n/a	n/a
4	GATA3	chr19:36627783-36628491	MCF-7	breast:	n/a	n/a
5	POLR2A	chr19:36627492-36628249	Hela-S3	cervix:	n/a	n/a
6	ELF1	chr19:36627577-36628301	A549	lung:	n/a	n/a
7	MAX	chr19:36627655-36628445	ECC-1	luminal epithelium:	n/a	n/a
8	JUND	chr19:36627588-36628448	SK-N-SH	brain:	n/a	chr19:36628062-36628073 chr19:36627683-36627690
9	SIN3AK20	chr19:36627618-36628471	A549	lung:	n/a	n/a
10	NR2F2	chr19:36627576-36628444	MCF-7	breast:	n/a	n/a
11	NR2F2	chr19:36627659-36628419	MCF-7	breast:	n/a	n/a
12	JUND	chr19:36627791-36628365	A549	lung:	n/a	chr19:36628062-36628073
13	EP300	chr19:36627661-36628351	A549	lung:	n/a	n/a
14	FOS	chr19:36627623-36628303	MCF10A-Er-Src	breast:	n/a	chr19:36628062-36628073 chr19:36627683-36627690
15	TBP	chr19:36627767-36628308	Hela-S3	cervix:	n/a	n/a
16	FOSL2	chr19:36627475-36628442	A549	lung:	n/a	chr19:36627683-36627690
17	JUND	chr19:36627740-36628440	MCF-7	breast:	n/a	chr19:36628062-36628073
18	JUN	chr19:36627763-36628445	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr19:36627714-36628492	PANC-1	pancreas:	n/a	n/a
20	MAX	chr19:36627139-36628373	Hela-S3	cervix:	n/a	n/a
21	MAX	chr19:36627714-36628374	MCF-7	breast:	n/a	n/a
22	SIN3AK20	chr19:36627522-36628515	MCF-7	breast:	n/a	n/a
23	NFIC	chr19:36627741-36628392	ECC-1	luminal epithelium:	n/a	n/a
24	STAT3	chr19:36627212-36628331	MCF10A-Er-Src	breast:	n/a	chr19:36627871-36627882
25	JUND	chr19:36627766-36628346	Hela-S3	cervix:	n/a	chr19:36628062-36628073
26	FOS	chr19:36627664-36628281	MCF10A-Er-Src	breast:	n/a	chr19:36628062-36628073 chr19:36627683-36627690
27	POLR2A	chr19:36627452-36628196	Hela-S3	cervix:	n/a	n/a
28	STAT3	chr19:36627564-36628228	MCF10A-Er-Src	breast:	n/a	chr19:36627871-36627882
29	FOSL2	chr19:36627766-36628318	MCF-7	breast:	n/a	n/a
30	TCF12	chr19:36627648-36628415	ECC-1	luminal epithelium:	n/a	chr19:36627717-36627724
31	SP1	chr19:36627511-36628578	A549	lung:	n/a	n/a
32	MYC	chr19:36627612-36628282	MCF10A-Er-Src	breast:	n/a	n/a
33	POLR2A	chr19:36627738-36628527	PANC-1	pancreas:	n/a	n/a
34	GTF2F1	chr19:36627699-36628288	Hela-S3	cervix:	n/a	n/a
35	TCF12	chr19:36627790-36628454	MCF-7	breast:	n/a	n/a
36	FOSL1	chr19:36627599-36628493	HCT-116	colon:	n/a	chr19:36627683-36627690
37	ATF3	chr19:36627570-36628569	A549	lung:	n/a	n/a
38	TEAD4	chr19:36627768-36628397	ECC-1	luminal epithelium:	n/a	n/a
39	YY1	chr19:36627511-36628127	A549	lung:	n/a	chr19:36627723-36627734
40	POLR2A	chr19:36627733-36628269	HCT-116	colon:	n/a	n/a
41	SP1	chr19:36627550-36628508	HCT-116	colon:	n/a	n/a
42	FOS	chr19:36627213-36628379	MCF10A-Er-Src	breast:	n/a	chr19:36628062-36628073 chr19:36627683-36627690
43	BCL3	chr19:36627469-36628580	A549	lung:	n/a	n/a
44	POLR2A	chr19:36627786-36628263	MCF10A-Er-Src	breast:	n/a	n/a
45	NFIC	chr19:36627762-36628460	SK-N-SH	brain:	n/a	n/a
46	POLR2A	chr19:36627378-36627882	HepG2	liver:	n/a	n/a
47	JUND	chr19:36627756-36628295	A549	lung:	n/a	chr19:36628062-36628073
48	REST	chr19:36627571-36628003	A549	lung:	n/a	n/a
49	MXI1	chr19:36627739-36628266	Hela-S3	cervix:	n/a	n/a
50	SP1	chr19:36627152-36628452	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:36605008..36606623-chr19:36627761..36629746,2	K562	blood:
2	chr19:36602524..36605915-chr19:36624764..36627980,3	MCF-7	breast:
3	chr19:36618747..36620839-chr19:36626381..36628843,2	K562	blood:
4	chr19:36627567..36628266-chr3:119813840..119814541,2	Hela-S3	cervix:

Variant related genes	Relation type
CAPNS1	TF binding region
ENSG00000105258	Chromatin interaction
ENSG00000242622	Chromatin interaction
ENSG00000105254	Chromatin interaction
ENSG00000105261	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 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

No data

Chromatin state (count:78 , 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	chr19:36619800-36627800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr19:36619800-36627800	Weak transcription	Fetal Muscle Leg	muscle
4	chr19:36619800-36630000	Weak transcription	Fetal Thymus	thymus
5	chr19:36619800-36630200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr19:36622600-36629800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr19:36623600-36630200	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr19:36623600-36630200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr19:36623800-36629600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr19:36623800-36630400	Weak transcription	Lung	lung
11	chr19:36624000-36630200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr19:36624200-36630200	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr19:36624600-36627800	Weak transcription	Spleen	Spleen
14	chr19:36624600-36629600	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr19:36624600-36630000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr19:36625800-36627800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr19:36626200-36628800	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr19:36626200-36629600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr19:36626600-36630200	Weak transcription	Right Ventricle	heart
20	chr19:36626600-36630400	Weak transcription	Esophagus	oesophagus
21	chr19:36626600-36630400	Weak transcription	Gastric	stomach
22	chr19:36626800-36628400	Enhancers	Muscle Satellite Cultured Cells	--
23	chr19:36627000-36628200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr19:36627000-36628200	Enhancers	K562	blood
25	chr19:36627000-36628600	Enhancers	Stomach Mucosa	stomach
26	chr19:36627200-36627800	Enhancers	Colonic Mucosa	Colon
27	chr19:36627200-36628000	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr19:36627200-36628200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr19:36627200-36628200	Enhancers	Placenta	Placenta
30	chr19:36627200-36628200	Enhancers	Placenta Amnion	Placenta Amnion
31	chr19:36627200-36628200	Flanking Active TSS	Hela-S3	cervix
32	chr19:36627200-36628400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr19:36627200-36628400	Enhancers	HUVEC	blood vessel
34	chr19:36627200-36628400	Enhancers	Monocytes-CD14+_RO01746	blood
35	chr19:36627400-36627800	Active TSS	HepG2	liver
36	chr19:36627400-36628200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr19:36627400-36628200	Flanking Active TSS	NHEK	skin
38	chr19:36627600-36627800	Active TSS	Duodenum Smooth Muscle	Duodenum
39	chr19:36627600-36627800	Active TSS	Rectal Smooth Muscle	rectum
40	chr19:36627600-36628000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr19:36627600-36628000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr19:36627600-36628000	Flanking Active TSS	Duodenum Mucosa	Duodenum
43	chr19:36627600-36628000	Enhancers	Left Ventricle	heart
44	chr19:36627600-36628000	Enhancers	Sigmoid Colon	Sigmoid Colon
45	chr19:36627600-36628000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
46	chr19:36627600-36628000	Flanking Active TSS	Stomach Smooth Muscle	stomach
47	chr19:36627600-36628000	Flanking Active TSS	HMEC	breast
48	chr19:36627600-36628000	Flanking Active TSS	HSMM	muscle
49	chr19:36627600-36628000	Flanking Active TSS	HSMMtube	muscle
50	chr19:36627600-36628000	Flanking Active TSS	Osteobl	bone

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