Variant report

Variant	rs191829748
Chromosome Location	chr19:53429005-53429006
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:53428585-53429139	GM12892	blood:	n/a	n/a
2	POLR2A	chr19:53426124-53429666	K562	blood:	n/a	n/a
3	POLR2A	chr19:53428652-53429129	GM12878	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:53429005-53429055	IMR90	lung:	fetal
2	chr19:53429005-53429055	GM06990	blood:	n/a
3	chr19:53429005-53429055	BE2_C	brain:	n/a
4	chr19:53429005-53429055	NHBE	bronchial:	n/a
5	chr19:53429005-53429055	AoSMC	blood vessel:	n/a
6	chr19:53429005-53429055	GM12892	blood:	n/a
7	chr19:53429005-53429055	GM12891	blood:	n/a
8	chr19:53429005-53429055	RPTEC	kidney:	n/a
9	chr19:53429005-53429055	SK-N-SH	brain:	n/a
10	chr19:53429005-53429055	H1-hESC	embryonic stem cell:	embryo
11	chr19:53429005-53429055	LNCaP	prostate:	n/a
12	chr19:53429005-53429055	U87	brain:	n/a
13	chr19:53429005-53429055	PrEC	prostate:	n/a
14	chr19:53429005-53429055	Caco-2	colon:	n/a
15	chr19:53429005-53429055	T-47D	breast:	n/a
16	chr19:53429005-53429055	NT2-D1	testis:	n/a
17	chr19:53429005-53429055	SKMC	muscle:	n/a
18	chr19:53429005-53429055	Hela-S3	cervix:	n/a
19	chr19:53429005-53429055	HCT-116	colon:	n/a
20	chr19:53429005-53429055	HPAEpiC	pulmonary alveolar:	n/a
21	chr19:53429005-53429055	NB4	blood:	n/a
22	chr19:53429005-53429055	Jurkat	blood:	n/a
23	chr19:53429005-53429055	NHDF-neo	bronchial:	n/a
24	chr19:53429005-53429055	HIPEpiC	eye:	n/a
25	chr19:53429005-53429055	CMK	blood:	n/a
26	chr19:53429005-53429055	HRPEpiC	eye:	n/a
27	chr19:53429005-53429055	BJ	skin:	n/a
28	chr19:53429005-53429055	ovcar-3	ovarian:	n/a
29	chr19:53429005-53429055	ProgFib	skin:	n/a
30	chr19:53429005-53429055	HEEpiC	esophagus:	n/a
31	chr19:53429005-53429055	SK-N-SH_RA	brain:	n/a
32	chr19:53429005-53429055	HCF	heart:	n/a
33	chr19:53429005-53429055	Hepatocyte	liver:	n/a
34	chr19:53429005-53429055	AG04449	skin:	fetal
35	chr19:53429005-53429055	AG04450	lung:	fetal
36	chr19:53429005-53429055	ECC-1	luminal epithelium:	n/a
37	chr19:53429005-53429055	PANC-1	pancreas:	n/a
38	chr19:53429005-53429055	GM19239	blood:	n/a
39	chr19:53429005-53429055	MCF-7	breast:	n/a
40	chr19:53429005-53429055	HL-60	blood:	n/a
41	chr19:53429005-53429055	HMEC	breast:	n/a
42	chr19:53429005-53429055	SK-N-MC	brain:	n/a
43	chr19:53429005-53429055	HCPEpiC	choroid plexus:	n/a
44	chr19:53429005-53429055	HUVEC	blood vessel:	n/a
45	chr19:53429005-53429055	PFSK-1	brain:	n/a
46	chr19:53429005-53429055	AG09319	gingival:	n/a
47	chr19:53429005-53429055	HAEpiC	amniotic membrane:	n/a
48	chr19:53429005-53429055	HNPCEpiC	eye:	n/a
49	chr19:53429005-53429055	HepG2	liver:	n/a
50	chr19:53429005-53429055	MCF10A-Er-Src	breast:	n/a

No data

Variant related genes	Relation type
ZNF888	TF binding region
ZNF888	CpG island

Extended variants
information (count: 32 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912307	chr19:53092465-53433054	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv912308	chr19:53092465-53436337	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv912309	chr19:53092465-53440653	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv912310	chr19:53092465-53451291	Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv912313	chr19:53103875-53436337	ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv912317	chr19:53105547-53440653	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
7	nsv1066762	chr19:53112568-53552217	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
8	nsv912318	chr19:53118278-53451291	Strong transcription ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
9	nsv432072	chr19:53144788-53554388	Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
10	esv3401212	chr19:53151131-53482063	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
11	nsv912321	chr19:53186836-53451291	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
12	nsv1058903	chr19:53193570-53489633	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
13	nsv1067280	chr19:53193570-53567287	Active TSS Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
14	nsv544062	chr19:53193570-53567287	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Genic enhancers 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	33 gene(s)	inside rSNPs	diseases
15	nsv580030	chr19:53194344-53547394	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
16	nsv1057118	chr19:53195426-53480449	Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
17	nsv530807	chr19:53210488-53695881	Strong transcription Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
18	nsv912323	chr19:53249347-53451291	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
19	esv3431689	chr19:53291230-53483998	Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
20	nsv912329	chr19:53317001-53440653	Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
21	nsv912330	chr19:53317001-53478109	Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
22	nsv1064234	chr19:53346827-53480449	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
23	esv3319159	chr19:53361167-53446431	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
24	esv3319160	chr19:53361308-53446343	ZNF genes & repeats Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
25	nsv912340	chr19:53370345-53430362	Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
26	esv3326632	chr19:53371248-53697569	Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
27	nsv963071	chr19:53401720-53480869	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
28	esv2758506	chr19:53410459-53652575	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
29	esv2758769	chr19:53410459-53652575	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
30	nsv428370	chr19:53410459-53652575	Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
31	nsv522421	chr19:53413825-53433054	Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
32	nsv2539	chr19:53428153-53434560	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:53426600-53444800	Weak transcription	Fetal Heart	heart
2	chr19:53426800-53431600	Weak transcription	HSMMtube	muscle
3	chr19:53426800-53432400	Weak transcription	Gastric	stomach
4	chr19:53426800-53434200	Weak transcription	NH-A	brain
5	chr19:53426800-53435600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr19:53426800-53444800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr19:53426800-53445000	Weak transcription	Small Intestine	intestine
8	chr19:53426800-53445200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr19:53426800-53445200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr19:53427000-53431200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr19:53427000-53431200	Weak transcription	Pancreas	Pancrea
12	chr19:53427000-53431800	Weak transcription	Esophagus	oesophagus
13	chr19:53427000-53431800	Weak transcription	HSMM	muscle
14	chr19:53427000-53432000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr19:53427000-53433400	Weak transcription	Lung	lung
16	chr19:53427000-53440200	Weak transcription	Aorta	Aorta
17	chr19:53427000-53442600	Weak transcription	Ovary	ovary
18	chr19:53427000-53444800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr19:53427200-53429400	Weak transcription	Fetal Intestine Small	intestine
20	chr19:53427200-53430200	Weak transcription	Fetal Stomach	stomach
21	chr19:53427200-53431000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr19:53427200-53431000	Weak transcription	Primary T cells from cord blood	blood
23	chr19:53427200-53431000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr19:53427200-53431200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr19:53427200-53431200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr19:53427200-53431800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr19:53427200-53431800	Weak transcription	Fetal Kidney	kidney
28	chr19:53427200-53431800	Weak transcription	Fetal Thymus	thymus
29	chr19:53427200-53439600	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr19:53427400-53431200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr19:53427400-53431400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr19:53427400-53431600	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr19:53427400-53432000	Weak transcription	Brain Cingulate Gyrus	brain
34	chr19:53427400-53444800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr19:53427400-53445000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr19:53427400-53445200	Weak transcription	Left Ventricle	heart
37	chr19:53427600-53430200	Weak transcription	Brain Angular Gyrus	brain
38	chr19:53427600-53430200	Weak transcription	Duodenum Mucosa	Duodenum
39	chr19:53427600-53431000	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr19:53427600-53431200	Weak transcription	Primary B cells from peripheral blood	blood
41	chr19:53427600-53431200	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr19:53427600-53431200	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr19:53427600-53431200	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr19:53427600-53431200	Weak transcription	Thymus	Thymus
45	chr19:53427600-53431600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr19:53427600-53431600	Weak transcription	Stomach Smooth Muscle	stomach
47	chr19:53427600-53431800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr19:53427600-53431800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr19:53427600-53431800	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr19:53427600-53431800	Weak transcription	HepG2	liver

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