Variant report

Variant	rs555853970
Chromosome Location	chr19:18060170-18060171
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RUNX3	chr19:18059883-18060179	GM12878	blood:	n/a	n/a
2	POLR2A	chr19:18059727-18060390	SK-N-MC	brain:	n/a	n/a
3	TBP	chr19:18059778-18060247	H1-hESC	embryonic stem cell:	n/a	n/a
4	EP300	chr19:18060123-18060303	GM12878	blood:	n/a	n/a
5	ZKSCAN1	chr19:18060152-18060406	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr19:18060148-18060290	H1-hESC	embryonic stem cell:	n/a	n/a
7	EBF1	chr19:18059974-18061771	GM12878	blood:	n/a	chr19:18060647-18060657 chr19:18061586-18061595 chr19:18060646-18060657 chr19:18061586-18061595
8	BACH1	chr19:18060112-18060197	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr19:18059937-18060393	H1-neurons	neurons:	n/a	n/a
10	CHD2	chr19:18059550-18060229	GM12878	blood:	n/a	n/a

No data

(count:15 , 50 per page) page: 1

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	chr19:18059749..18060616-chr19:18107405..18108095,3	MCF-7	breast:
5	chr19:18055988..18065489-chr19:18073307..18083163,16	K562	blood:
6	chr19:18060053..18061688-chr19:18218502..18220719,2	K562	blood:
7	chr19:18057399..18062095-chr19:18108081..18112546,5	K562	blood:
8	chr19:18058545..18060351-chr19:18094684..18096854,2	MCF-7	breast:
9	chr19:18058787..18061046-chr19:18077855..18080971,5	K562	blood:
10	chr19:18058858..18061007-chr19:18390720..18393623,2	K562	blood:
11	chr19:17974807..17978167-chr19:18058036..18060976,4	K562	blood:
12	chr19:18059452..18062098-chr19:18102180..18104149,2	MCF-7	breast:
13	chr19:17969435..17972591-chr19:18056494..18062279,6	K562	blood:
14	chr19:17970109..17972099-chr19:18059372..18061707,2	MCF-7	breast:
15	chr19:17969156..17972643-chr19:18057294..18060299,6	K562	blood:

No data

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

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 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
13	nsv911230	chr19:18059744-18092442	Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	nsv911231	chr19:18059744-18095251	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18058600-18060800	Weak transcription	Gastric	stomach
2	chr19:18058600-18061000	Enhancers	K562	blood
3	chr19:18059200-18060800	Weak transcription	Lung	lung
4	chr19:18059200-18062200	Enhancers	Fetal Brain Male	brain
5	chr19:18059200-18063800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
6	chr19:18059200-18064400	Enhancers	Pancreas	Pancrea
7	chr19:18059400-18060400	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr19:18059400-18060400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr19:18059400-18060800	Enhancers	Brain Substantia Nigra	brain
10	chr19:18059400-18062800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr19:18059400-18062800	Bivalent Enhancer	Stomach Mucosa	stomach
12	chr19:18059400-18064600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr19:18059600-18060200	Flanking Active TSS	Primary hematopoietic stem cells	blood
14	chr19:18059600-18060200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
15	chr19:18059600-18060200	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
16	chr19:18059600-18060200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr19:18059600-18060200	Bivalent Enhancer	Colon Smooth Muscle	Colon
18	chr19:18059600-18060200	Bivalent Enhancer	Duodenum Mucosa	Duodenum
19	chr19:18059600-18060200	Bivalent Enhancer	Fetal Heart	heart
20	chr19:18059600-18060200	Bivalent Enhancer	Fetal Lung	lung
21	chr19:18059600-18060200	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
22	chr19:18059600-18060200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
23	chr19:18059600-18060400	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr19:18059600-18060400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
25	chr19:18059600-18060400	Flanking Active TSS	Brain Germinal Matrix	brain
26	chr19:18059600-18060400	Flanking Active TSS	GM12878-XiMat	blood
27	chr19:18059600-18060600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
28	chr19:18059600-18061400	Bivalent Enhancer	Fetal Intestine Small	intestine
29	chr19:18059600-18061600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
30	chr19:18059600-18061800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr19:18059600-18062200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
32	chr19:18059600-18064000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
33	chr19:18059600-18064200	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
34	chr19:18059800-18060200	Enhancers	Primary B cells from cord blood	blood
35	chr19:18059800-18060200	Bivalent Enhancer	Primary T cells from cord blood	blood
36	chr19:18059800-18060200	Enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr19:18059800-18060200	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
38	chr19:18059800-18060200	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr19:18059800-18060200	Bivalent Enhancer	Brain Anterior Caudate	brain
40	chr19:18059800-18060200	Enhancers	Dnd41	blood
41	chr19:18059800-18060400	Flanking Bivalent TSS/Enh	Thymus	Thymus
42	chr19:18059800-18060600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr19:18059800-18060600	Bivalent Enhancer	Brain Hippocampus Middle	brain
44	chr19:18059800-18060800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
45	chr19:18059800-18060800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr19:18059800-18060800	Weak transcription	Right Atrium	heart
47	chr19:18059800-18060800	Bivalent Enhancer	NHEK	skin
48	chr19:18059800-18061200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
49	chr19:18059800-18061200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
50	chr19:18059800-18061200	Weak transcription	Fetal Kidney	kidney

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