Variant report

Variant	rs532299777
Chromosome Location	chr19:18059547-18059548
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	HCFC1	chr19:18058050-18059886	Hela-S3	cervix:	n/a	n/a
2	MAZ	chr19:18058304-18059745	GM12878	blood:	n/a	chr19:18059607-18059617 chr19:18058439-18058448
3	CHD2	chr19:18059528-18059809	H1-hESC	embryonic stem cell:	n/a	n/a
4	EGR1	chr19:18058897-18059744	K562	blood:	n/a	chr19:18058919-18058929 chr19:18059037-18059047 chr19:18059038-18059051 chr19:18058920-18058930 chr19:18058982-18058995 chr19:18058926-18058936 chr19:18058987-18058997 chr19:18059168-18059177 chr19:18058921-18058934 chr19:18058928-18058941
5	ZBTB7A	chr19:18058615-18059654	K562	blood:	n/a	n/a
6	POLR2A	chr19:18057865-18060070	H1-hESC	embryonic stem cell:	n/a	n/a
7	ZBTB7A	chr19:18058462-18059691	ECC-1	luminal epithelium:	n/a	n/a
8	POLR2A	chr19:18058330-18059691	H1-neurons	neurons:	n/a	n/a
9	POLR2A	chr19:18058303-18059561	MCF-7	breast:	n/a	n/a
10	MAZ	chr19:18058106-18059666	IMR90	lung:	n/a	chr19:18059607-18059617 chr19:18058439-18058448
11	ZBTB7A	chr19:18058469-18059615	ECC-1	luminal epithelium:	n/a	n/a
12	SIN3A	chr19:18059475-18059621	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr19:18058363-18059673	H1-neurons	neurons:	n/a	n/a
14	EGR1	chr19:18058352-18059600	K562	blood:	n/a	chr19:18058919-18058929 chr19:18058714-18058728 chr19:18059037-18059047 chr19:18059038-18059051 chr19:18058920-18058930 chr19:18058982-18058995 chr19:18058926-18058936 chr19:18058987-18058997 chr19:18058893-18058902 chr19:18059168-18059177 chr19:18058712-18058727 chr19:18058666-18058675 chr19:18058813-18058822 chr19:18058921-18058934 chr19:18058928-18058941 chr19:18058737-18058746
15	POLR2A	chr19:18058650-18059673	Hela-S3	cervix:	n/a	n/a
16	MAZ	chr19:18058428-18059554	K562	blood:	n/a	chr19:18058439-18058448

No.	Distal block	Cell Line	Cell type
1	chr19:18058883..18061817-chr19:18083400..18086380,2	K562	blood:
2	chr19:18057024..18060346-chr19:18095045..18097691,3	K562	blood:
3	chr19:18058855..18062679-chr19:18075387..18079032,3	MCF-7	breast:
4	chr19:18055988..18065489-chr19:18073307..18083163,16	K562	blood:
5	chr19:18057399..18062095-chr19:18108081..18112546,5	K562	blood:
6	chr19:18057353..18059947-chr19:18110814..18113485,3	MCF-7	breast:
7	chr19:18058545..18060351-chr19:18094684..18096854,2	MCF-7	breast:
8	chr19:18057965..18060030-chr19:18157844..18159639,2	K562	blood:
9	chr19:18058787..18061046-chr19:18077855..18080971,5	K562	blood:
10	chr19:18058858..18061007-chr19:18390720..18393623,2	K562	blood:
11	chr19:18052069..18059812-chr19:18106129..18113779,16	K562	blood:
12	chr19:17974807..17978167-chr19:18058036..18060976,4	K562	blood:
13	chr19:18059452..18062098-chr19:18102180..18104149,2	MCF-7	breast:
14	chr19:18057341..18060009-chr19:18227603..18230383,4	K562	blood:
15	chr19:17969435..17972591-chr19:18056494..18062279,6	K562	blood:
16	chr19:18057090..18059767-chr19:18110634..18113948,3	MCF-7	breast:
17	chr19:17970109..17972099-chr19:18059372..18061707,2	MCF-7	breast:
18	chr19:17969156..17972643-chr19:18057294..18060299,6	K562	blood:

Variant related genes	Relation type
KCNN1	TF binding region
ENSG00000130522	Chromatin interaction
ENSG00000243455	Chromatin interaction
ENSG00000252591	Chromatin interaction
ENSG00000105643	Chromatin interaction
ENSG00000105640	Chromatin interaction
ENSG00000105642	Chromatin interaction
ENSG00000267959	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911214	chr19:17827442-18123965	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
2	nsv1055932	chr19:17923918-18369944	Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
3	nsv543923	chr19:17923918-18369944	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
4	nsv833772	chr19:17965173-18139337	Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	75 gene(s)	inside rSNPs	diseases
5	nsv911226	chr19:18007077-18075077	Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv911227	chr19:18007077-18117646	Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
7	nsv532614	chr19:18033043-18573963	Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	204 gene(s)	inside rSNPs	diseases
8	nsv911228	chr19:18038782-18101830	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active 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	13 gene(s)	inside rSNPs	diseases
9	nsv911229	chr19:18042945-18117646	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
10	nsv470130	chr19:18047283-18234587	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
11	esv3406796	chr19:18057477-18060725	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
12	esv3358201	chr19:18058077-18060550	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18058000-18060000	Active TSS	H9 Cell Line	embryonic stem cell
2	chr19:18058200-18059600	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr19:18058200-18059600	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr19:18058200-18059800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr19:18058200-18059800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr19:18058200-18059800	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr19:18058200-18060000	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr19:18058200-18060000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr19:18058200-18060000	Active TSS	Aorta	Aorta
10	chr19:18058400-18059600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
11	chr19:18058400-18059600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr19:18058400-18059600	Active TSS	Muscle Satellite Cultured Cells	--
13	chr19:18058400-18059600	Active TSS	Brain Germinal Matrix	brain
14	chr19:18058400-18059600	Active TSS	Brain Inferior Temporal Lobe	brain
15	chr19:18058400-18059600	Active TSS	Colon Smooth Muscle	Colon
16	chr19:18058400-18059600	Active TSS	Psoas Muscle	Psoas
17	chr19:18058400-18059600	Active TSS	A549	lung
18	chr19:18058400-18059600	Active TSS	GM12878-XiMat	blood
19	chr19:18058400-18059800	Active TSS	H1 Cell Line	embryonic stem cell
20	chr19:18058400-18059800	Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr19:18058400-18059800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr19:18058400-18059800	Active TSS	Rectal Smooth Muscle	rectum
23	chr19:18058400-18059800	Active TSS	Right Atrium	heart
24	chr19:18058400-18059800	Active TSS	Right Ventricle	heart
25	chr19:18058400-18060000	Active TSS	Ovary	ovary
26	chr19:18058600-18059600	Active TSS	iPS-18 Cell Line	embryonic stem cell
27	chr19:18058600-18059600	Active TSS	iPS-20b Cell Line	embryonic stem cell
28	chr19:18058600-18059600	Enhancers	Primary hematopoietic stem cells	blood
29	chr19:18058600-18059600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr19:18058600-18059600	Active TSS	Brain Anterior Caudate	brain
31	chr19:18058600-18059600	Active TSS	Duodenum Mucosa	Duodenum
32	chr19:18058600-18059600	Active TSS	Skeletal Muscle Male	skeletal muscle
33	chr19:18058600-18059600	Active TSS	Skeletal Muscle Female	skeletal muscle
34	chr19:18058600-18059600	Active TSS	Hela-S3	cervix
35	chr19:18058600-18059600	Active TSS	HMEC	breast
36	chr19:18058600-18059800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr19:18058600-18059800	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
38	chr19:18058600-18059800	Active TSS	Thymus	Thymus
39	chr19:18058600-18060000	Active TSS	Fetal Brain Female	brain
40	chr19:18058600-18060000	Enhancers	Placenta	Placenta
41	chr19:18058600-18060800	Weak transcription	Gastric	stomach
42	chr19:18058600-18061000	Enhancers	K562	blood
43	chr19:18058800-18059600	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr19:18059200-18059600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr19:18059200-18059600	Enhancers	Primary T helper naive cells from peripheral blood	blood
46	chr19:18059200-18060000	Enhancers	Primary neutrophils fromperipheralblood	blood
47	chr19:18059200-18060000	Weak transcription	Liver	Liver
48	chr19:18059200-18060000	Weak transcription	Esophagus	oesophagus
49	chr19:18059200-18060800	Weak transcription	Lung	lung
50	chr19:18059200-18062200	Enhancers	Fetal Brain Male	brain

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