Variant report

Variant	rs58384335
Chromosome Location	chr19:35630020-35630021
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:29)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:29 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:35629676-35630169	HepG2	liver:	n/a	n/a
2	HEY1	chr19:35629250-35630837	HepG2	liver:	n/a	chr19:35629601-35629616 chr19:35629612-35629627
3	POLR2A	chr19:35629830-35630463	K562	blood:	n/a	n/a
4	MAX	chr19:35629838-35630397	NB4	blood:	n/a	n/a
5	POLR2A	chr19:35629670-35630754	HepG2	liver:	n/a	n/a
6	MAX	chr19:35629709-35630882	HepG2	liver:	n/a	chr19:35630455-35630464
7	CEBPB	chr19:35629865-35630192	K562	blood:	n/a	n/a
8	MAZ	chr19:35629361-35630761	IMR90	lung:	n/a	chr19:35630455-35630464
9	CEBPB	chr19:35629905-35630188	H1-hESC	embryonic stem cell:	n/a	n/a
10	CEBPB	chr19:35629866-35630465	HepG2	liver:	n/a	n/a
11	POLR2A	chr19:35629655-35630526	HepG2	liver:	n/a	n/a
12	POLR2A	chr19:35629748-35630279	HepG2	liver:	n/a	n/a
13	ZBTB7A	chr19:35629338-35630195	ECC-1	luminal epithelium:	n/a	n/a
14	CEBPB	chr19:35629858-35630403	HepG2	liver:	n/a	n/a
15	CEBPD	chr19:35629864-35630201	HepG2	liver:	n/a	n/a
16	MXI1	chr19:35629865-35630717	HepG2	liver:	n/a	chr19:35630455-35630470
17	CEBPB	chr19:35629897-35630096	HepG2	liver:	n/a	n/a
18	RCOR1	chr19:35629682-35630390	IMR90	lung:	n/a	n/a
19	CTCF	chr19:35629940-35630090	BJ	skin:	n/a	n/a
20	CEBPB	chr19:35629841-35630465	IMR90	lung:	n/a	n/a
21	MYC	chr19:35629935-35630115	MCF-7	breast:	n/a	n/a
22	MAX	chr19:35629943-35630272	HepG2	liver:	n/a	n/a
23	MYC	chr19:35629835-35630331	NB4	blood:	n/a	n/a
24	CEBPB	chr19:35629884-35630080	HepG2	liver:	n/a	n/a
25	CEBPB	chr19:35629909-35630205	A549	lung:	n/a	n/a
26	POLR2A	chr19:35629807-35630346	K562	blood:	n/a	n/a
27	FOXP2	chr19:35629888-35630246	PFSK-1	brain:	n/a	n/a
28	MAZ	chr19:35629915-35630282	HepG2	liver:	n/a	n/a
29	MYC	chr19:35630018-35630075	HepG2	liver:	n/a	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC020907.3-5	chr19:35628549-35630484	NONHSAT065801
2	lnc-FXYD7-1	chr19:35629732-35631044	NONHSAT065802

No data

Variant related genes	Relation type
FXYD7	TF binding region
FXYD1	TF binding region
LGI4	TF binding region

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

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs73588864	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised 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 miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv911614	chr19:35570307-35648365	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	41 gene(s)	inside rSNPs	diseases
3	nsv911615	chr19:35577870-35648365	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
4	nsv911616	chr19:35577870-35669071	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
5	nsv911617	chr19:35587791-35642297	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:35626200-35633200	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr19:35626600-35633800	Enhancers	Spleen	Spleen
3	chr19:35626800-35630400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr19:35626800-35630600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr19:35626800-35631200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr19:35626800-35631400	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr19:35626800-35631600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr19:35626800-35631800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr19:35626800-35632400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr19:35627000-35631400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr19:35627000-35631400	Enhancers	Pancreas	Pancrea
12	chr19:35627000-35631600	Weak transcription	Hela-S3	cervix
13	chr19:35627200-35630200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr19:35627200-35630600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr19:35627200-35631600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr19:35627200-35631600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr19:35627200-35631800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr19:35627200-35631800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr19:35628400-35631200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr19:35628400-35631600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr19:35628400-35631600	Weak transcription	A549	lung
22	chr19:35628400-35631600	Weak transcription	GM12878-XiMat	blood
23	chr19:35628400-35631800	Weak transcription	HMEC	breast
24	chr19:35628600-35630800	Weak transcription	Stomach Mucosa	stomach
25	chr19:35628600-35632400	Weak transcription	Gastric	stomach
26	chr19:35628800-35631000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr19:35629000-35630600	Weak transcription	Lung	lung
28	chr19:35629000-35630800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr19:35629000-35630800	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
30	chr19:35629000-35631800	Enhancers	NHLF	lung
31	chr19:35629200-35630400	Flanking Active TSS	Fetal Muscle Trunk	muscle
32	chr19:35629200-35630600	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr19:35629200-35630600	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr19:35629200-35630800	Active TSS	Brain Anterior Caudate	brain
35	chr19:35629200-35631000	Flanking Active TSS	Fetal Muscle Leg	muscle
36	chr19:35629200-35631800	Enhancers	Placenta Amnion	Placenta Amnion
37	chr19:35629200-35632000	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr19:35629200-35632200	Flanking Active TSS	Adipose Nuclei	Adipose
39	chr19:35629200-35632400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr19:35629400-35630200	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
41	chr19:35629400-35630600	Active TSS	Rectal Smooth Muscle	rectum
42	chr19:35629400-35631200	Enhancers	H1 Cell Line	embryonic stem cell
43	chr19:35629400-35631400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr19:35629400-35631800	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr19:35629400-35632200	Active TSS	Esophagus	oesophagus
46	chr19:35629400-35632400	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr19:35629600-35630800	Active TSS	Aorta	Aorta
48	chr19:35629600-35630800	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
49	chr19:35629600-35630800	Active TSS	Left Ventricle	heart
50	chr19:35629600-35631000	Active TSS	Right Atrium	heart

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