Variant report

Variant	rs568034032
Chromosome Location	chr19:18059921-18059922
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:61)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 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	POLR2A	chr19:18057865-18060070	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr19:18059853-18060095	H1-hESC	embryonic stem cell:	n/a	n/a
6	CHD2	chr19:18059550-18060229	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:18059878-18059928	MCF-7	breast:	n/a
2	chr19:18059878-18059928	AG04450	lung:	fetal
3	chr19:18059878-18059928	AoSMC	blood vessel:	n/a
4	chr19:18059878-18059928	SK-N-SH_RA	brain:	n/a
5	chr19:18059878-18059928	HCPEpiC	choroid plexus:	n/a
6	chr19:18059878-18059928	CMK	blood:	n/a
7	chr19:18059878-18059928	HAEpiC	amniotic membrane:	n/a
8	chr19:18059878-18059928	BE2_C	brain:	n/a
9	chr19:18059878-18059928	HEEpiC	esophagus:	n/a
10	chr19:18059878-18059928	AG10803	skin:	n/a
11	chr19:18059878-18059928	AG09319	gingival:	n/a
12	chr19:18059878-18059928	LNCaP	prostate:	n/a
13	chr19:18059878-18059928	Jurkat	blood:	n/a
14	chr19:18059878-18059928	AG04449	skin:	fetal
15	chr19:18059878-18059928	NB4	blood:	n/a
16	chr19:18059878-18059928	T-47D	breast:	n/a
17	chr19:18059878-18059928	HPAEpiC	pulmonary alveolar:	n/a
18	chr19:18059878-18059928	HL-60	blood:	n/a
19	chr19:18059878-18059928	HCF	heart:	n/a
20	chr19:18059878-18059928	NHDF-neo	bronchial:	n/a
21	chr19:18059878-18059928	BJ	skin:	n/a
22	chr19:18059878-18059928	K562	blood:	n/a
23	chr19:18059878-18059928	HMEC	breast:	n/a
24	chr19:18059878-18059928	GM19239	blood:	n/a
25	chr19:18059878-18059928	HepG2	liver:	n/a
26	chr19:18059878-18059928	HCT-116	colon:	n/a
27	chr19:18059878-18059928	SK-N-MC	brain:	n/a
28	chr19:18059878-18059928	PrEC	prostate:	n/a
29	chr19:18059878-18059928	SK-N-SH	brain:	n/a
30	chr19:18059878-18059928	HIPEpiC	eye:	n/a
31	chr19:18059878-18059928	NHBE	bronchial:	n/a
32	chr19:18059878-18059928	PANC-1	pancreas:	n/a
33	chr19:18059878-18059928	HNPCEpiC	eye:	n/a
34	chr19:18059878-18059928	ECC-1	luminal epithelium:	n/a
35	chr19:18059878-18059928	NH-A	brain:	n/a
36	chr19:18059878-18059928	SKMC	muscle:	n/a
37	chr19:18059878-18059928	HEK293	kidney:	embryo
38	chr19:18059878-18059928	HRPEpiC	eye:	n/a
39	chr19:18059878-18059928	NT2-D1	testis:	n/a
40	chr19:18059878-18059928	HRE	kidney:	n/a
41	chr19:18059878-18059928	Caco-2	colon:	n/a
42	chr19:18059878-18059928	IMR90	lung:	fetal
43	chr19:18059878-18059928	ProgFib	skin:	n/a
44	chr19:18059878-18059928	A549	lung:	n/a
45	chr19:18059878-18059928	HUVEC	blood vessel:	n/a
46	chr19:18059878-18059928	GM12878	blood:	n/a
47	chr19:18059878-18059928	RPTEC	kidney:	n/a
48	chr19:18059878-18059928	ovcar-3	ovarian:	n/a
49	chr19:18059878-18059928	SAEC	small airway:	n/a
50	chr19:18059878-18059928	H1-hESC	embryonic stem cell:	embryo

(count:17 , 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	chr19:18057399..18062095-chr19:18108081..18112546,5	K562	blood:
7	chr19:18057353..18059947-chr19:18110814..18113485,3	MCF-7	breast:
8	chr19:18058545..18060351-chr19:18094684..18096854,2	MCF-7	breast:
9	chr19:18057965..18060030-chr19:18157844..18159639,2	K562	blood:
10	chr19:18058787..18061046-chr19:18077855..18080971,5	K562	blood:
11	chr19:18058858..18061007-chr19:18390720..18393623,2	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	chr19:17970109..17972099-chr19:18059372..18061707,2	MCF-7	breast:
17	chr19:17969156..17972643-chr19:18057294..18060299,6	K562	blood:

No data

Variant related genes	Relation type
KCNN1	TF binding region
KCNN1	CpG island
ENSG00000243455	Chromatin interaction
ENSG00000105640	Chromatin interaction
ENSG00000105642	Chromatin interaction
ENSG00000252591	Chromatin interaction
ENSG00000267959	Chromatin interaction
ENSG00000130522	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:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18058000-18060000	Active TSS	H9 Cell Line	embryonic stem cell
2	chr19:18058200-18060000	Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr19:18058200-18060000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr19:18058200-18060000	Active TSS	Aorta	Aorta
5	chr19:18058400-18060000	Active TSS	Ovary	ovary
6	chr19:18058600-18060000	Active TSS	Fetal Brain Female	brain
7	chr19:18058600-18060000	Enhancers	Placenta	Placenta
8	chr19:18058600-18060800	Weak transcription	Gastric	stomach
9	chr19:18058600-18061000	Enhancers	K562	blood
10	chr19:18059200-18060000	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr19:18059200-18060000	Weak transcription	Liver	Liver
12	chr19:18059200-18060000	Weak transcription	Esophagus	oesophagus
13	chr19:18059200-18060800	Weak transcription	Lung	lung
14	chr19:18059200-18062200	Enhancers	Fetal Brain Male	brain
15	chr19:18059200-18063800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
16	chr19:18059200-18064400	Enhancers	Pancreas	Pancrea
17	chr19:18059400-18060000	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr19:18059400-18060000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr19:18059400-18060000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
20	chr19:18059400-18060000	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
21	chr19:18059400-18060000	Enhancers	Colonic Mucosa	Colon
22	chr19:18059400-18060000	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
23	chr19:18059400-18060000	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr19:18059400-18060400	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr19:18059400-18060400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr19:18059400-18060800	Enhancers	Brain Substantia Nigra	brain
27	chr19:18059400-18062800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr19:18059400-18062800	Bivalent Enhancer	Stomach Mucosa	stomach
29	chr19:18059400-18064600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr19:18059600-18060000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr19:18059600-18060000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
32	chr19:18059600-18060000	Enhancers	Adipose Nuclei	Adipose
33	chr19:18059600-18060000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
34	chr19:18059600-18060000	Enhancers	Duodenum Smooth Muscle	Duodenum
35	chr19:18059600-18060000	Enhancers	Rectal Mucosa Donor 29	rectum
36	chr19:18059600-18060000	Enhancers	A549	lung
37	chr19:18059600-18060000	Bivalent Enhancer	HepG2	liver
38	chr19:18059600-18060000	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
39	chr19:18059600-18060200	Flanking Active TSS	Primary hematopoietic stem cells	blood
40	chr19:18059600-18060200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
41	chr19:18059600-18060200	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
42	chr19:18059600-18060200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
43	chr19:18059600-18060200	Bivalent Enhancer	Colon Smooth Muscle	Colon
44	chr19:18059600-18060200	Bivalent Enhancer	Duodenum Mucosa	Duodenum
45	chr19:18059600-18060200	Bivalent Enhancer	Fetal Heart	heart
46	chr19:18059600-18060200	Bivalent Enhancer	Fetal Lung	lung
47	chr19:18059600-18060200	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
48	chr19:18059600-18060200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
49	chr19:18059600-18060400	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr19:18059600-18060400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell

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