Variant report

Variant	rs561435746
Chromosome Location	chr19:51401029-51401030
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:94)
CpG islands
(count:61)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:94 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	USF2	chr19:51399820-51401101	GM12878	blood:	n/a	n/a
2	CTCF	chr19:51400900-51401050	MCF-7	breast:	n/a	n/a
3	RELA	chr19:51399813-51401112	GM18526	blood:	n/a	n/a
4	RAD21	chr19:51400904-51401145	GM12878	blood:	n/a	n/a
5	CTCF	chr19:51400960-51401110	GM12878	blood:	n/a	n/a
6	RAD21	chr19:51400829-51401355	HCT-116	colon:	n/a	n/a
7	FOS	chr19:51400854-51401033	MCF10A-Er-Src	breast:	n/a	n/a
8	CTCF	chr19:51400970-51401089	Hela-S3	cervix:	n/a	n/a
9	CTCF	chr19:51400870-51401314	HCT-116	colon:	n/a	n/a
10	MXI1	chr19:51399745-51401061	GM12878	blood:	n/a	n/a
11	EP300	chr19:51399783-51401081	GM12878	blood:	n/a	chr19:51400074-51400083
12	CTCF	chr19:51400920-51401070	HMEC	breast:	n/a	n/a
13	CTCF	chr19:51400920-51401070	GM12873	blood:	n/a	n/a
14	CTCF	chr19:51400940-51401090	HMEC	breast:	n/a	n/a
15	CTCF	chr19:51400880-51401030	GM12871	blood:	n/a	n/a
16	CTCF	chr19:51400988-51401080	LNCaP	prostate:	n/a	n/a
17	RELA	chr19:51399839-51401122	GM19099	blood:	n/a	n/a
18	EBF1	chr19:51399732-51401194	GM12878	blood:	n/a	n/a
19	MTA3	chr19:51399720-51401135	GM12878	blood:	n/a	n/a
20	EP300	chr19:51399719-51401397	GM12878	blood:	n/a	chr19:51400074-51400083
21	RAD21	chr19:51400841-51401105	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTCF	chr19:51400920-51401070	GM12872	blood:	n/a	n/a
23	CTCF	chr19:51400940-51401090	NHEK	skin:	n/a	n/a
24	MAX	chr19:51399799-51401112	GM12878	blood:	n/a	chr19:51399997-51400008 chr19:51400109-51400120
25	CTCF	chr19:51401020-51401170	GM12865	blood:	n/a	n/a
26	CTCF	chr19:51400968-51401051	Gliobla	brain:	n/a	n/a
27	RUNX3	chr19:51399667-51401253	GM12878	blood:	n/a	chr19:51400137-51400146
28	CTCF	chr19:51400980-51401055	H1-hESC	embryonic stem cell:	n/a	n/a
29	CTCF	chr19:51400900-51401050	GM12864	blood:	n/a	n/a
30	CTCF	chr19:51400936-51401108	GM12891	blood:	n/a	n/a
31	CTCF	chr19:51400860-51401130	GM12869	blood:	n/a	n/a
32	CTCF	chr19:51400939-51401095	GM12892	blood:	n/a	n/a
33	SP1	chr19:51399735-51401140	GM12878	blood:	n/a	chr19:51400737-51400750
34	CTCF	chr19:51400940-51401090	MCF-7	breast:	n/a	n/a
35	SREBP2	chr19:51399463-51401377	GM12878	blood:	n/a	n/a
36	CTCF	chr19:51400965-51401036	GM10248	blood:	n/a	n/a
37	CTCF	chr19:51400937-51401108	NHEK	skin:	n/a	n/a
38	WRNIP1	chr19:51399791-51401549	GM12878	blood:	n/a	n/a
39	CTCF	chr19:51400975-51401062	GM13976	blood:	n/a	n/a
40	TCF3	chr19:51399752-51401095	GM12878	blood:	n/a	n/a
41	JUND	chr19:51399790-51401173	GM12878	blood:	n/a	chr19:51400073-51400083 chr19:51400073-51400083 chr19:51400072-51400084 chr19:51400073-51400083 chr19:51400072-51400083 chr19:51400031-51400040 chr19:51400073-51400082
42	RELA	chr19:51399845-51401050	GM19193	blood:	n/a	n/a
43	CTCF	chr19:51400940-51401090	SAEC	small airway:	n/a	n/a
44	RELA	chr19:51399702-51401142	GM12891	blood:	n/a	n/a
45	CTCF	chr19:51400962-51401077	A549	lung:	n/a	n/a
46	POU2F2	chr19:51399658-51401090	GM12878	blood:	n/a	n/a
47	CHD1	chr19:51399763-51401491	GM12878	blood:	n/a	n/a
48	CTCF	chr19:51400828-51401197	GM12878	blood:	n/a	n/a
49	IKZF1	chr19:51399524-51401263	GM12878	blood:	n/a	n/a
50	RELA	chr19:51399763-51401112	GM10847	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:51400998-51401048	AoSMC	blood vessel:	n/a
2	chr19:51400998-51401048	MCF10A-Er-Src	breast:	n/a
3	chr19:51400998-51401048	GM12891	blood:	n/a
4	chr19:51400998-51401048	PrEC	prostate:	n/a
5	chr19:51400998-51401048	SK-N-MC	brain:	n/a
6	chr19:51400998-51401048	H1-hESC	embryonic stem cell:	embryo
7	chr19:51400998-51401048	HUVEC	blood vessel:	n/a
8	chr19:51400998-51401048	HIPEpiC	eye:	n/a
9	chr19:51400998-51401048	HEEpiC	esophagus:	n/a
10	chr19:51400998-51401048	AG10803	skin:	n/a
11	chr19:51400998-51401048	NHBE	bronchial:	n/a
12	chr19:51400998-51401048	SKMC	muscle:	n/a
13	chr19:51400998-51401048	Caco-2	colon:	n/a
14	chr19:51400998-51401048	Hela-S3	cervix:	n/a
15	chr19:51400998-51401048	AG04450	lung:	fetal
16	chr19:51400998-51401048	AG04449	skin:	fetal
17	chr19:51400998-51401048	NHDF-neo	bronchial:	n/a
18	chr19:51400998-51401048	GM06990	blood:	n/a
19	chr19:51400998-51401048	HAEpiC	amniotic membrane:	n/a
20	chr19:51400998-51401048	HMEC	breast:	n/a
21	chr19:51400998-51401048	HCM	heart:	n/a
22	chr19:51400998-51401048	GM19239	blood:	n/a
23	chr19:51400998-51401048	LNCaP	prostate:	n/a
24	chr19:51400998-51401048	U87	brain:	n/a
25	chr19:51400998-51401048	SK-N-SH_RA	brain:	n/a
26	chr19:51400998-51401048	K562	blood:	n/a
27	chr19:51400998-51401048	ovcar-3	ovarian:	n/a
28	chr19:51400998-51401048	SAEC	small airway:	n/a
29	chr19:51400998-51401048	T-47D	breast:	n/a
30	chr19:51400998-51401048	HCPEpiC	choroid plexus:	n/a
31	chr19:51400998-51401048	ProgFib	skin:	n/a
32	chr19:51400998-51401048	HRE	kidney:	n/a
33	chr19:51400998-51401048	PFSK-1	brain:	n/a
34	chr19:51400998-51401048	MCF-7	breast:	n/a
35	chr19:51400998-51401048	HNPCEpiC	eye:	n/a
36	chr19:51400998-51401048	BJ	skin:	n/a
37	chr19:51400998-51401048	BE2_C	brain:	n/a
38	chr19:51400998-51401048	AG09309	skin:	n/a
39	chr19:51400998-51401048	HEK293	kidney:	embryo
40	chr19:51400998-51401048	GM12878	blood:	n/a
41	chr19:51400998-51401048	NT2-D1	testis:	n/a
42	chr19:51400998-51401048	HRCEpiC	kidney:	n/a
43	chr19:51400998-51401048	GM12892	blood:	n/a
44	chr19:51400998-51401048	HCF	heart:	n/a
45	chr19:51400998-51401048	HepG2	liver:	n/a
46	chr19:51400998-51401048	IMR90	lung:	fetal
47	chr19:51400998-51401048	A549	lung:	n/a
48	chr19:51400998-51401048	HRPEpiC	eye:	n/a
49	chr19:51400998-51401048	Jurkat	blood:	n/a
50	chr19:51400998-51401048	SK-N-SH	brain:	n/a

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:51305899..51307746-chr19:51399929..51401731,2	K562	blood:
2	chr19:51391887..51394090-chr19:51400649..51402810,2	MCF-7	breast:
3	chr19:51398902..51402347-chr19:51410482..51413710,3	K562	blood:
4	chr19:51398615..51401717-chr19:51409067..51411982,3	K562	blood:
5	chr19:51306246..51308382-chr19:51400037..51401731,2	K562	blood:
6	chr19:51297092..51299196-chr19:51400128..51402648,2	K562	blood:

No data

Variant related genes	Relation type
KLKP1	TF binding region
KLKP1	CpG island
ENSG00000167747	Chromatin interaction
ENSG00000167749	Chromatin interaction
ENSG00000197588	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1060760	chr19:50883425-51463712	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
2	nsv1058177	chr19:50984774-51463712	Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
3	nsv511623	chr19:51400775-51408842	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51399400-51401400	Enhancers	Primary B cells from peripheral blood	blood
2	chr19:51399800-51401400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr19:51399800-51401600	Enhancers	HMEC	breast
4	chr19:51399800-51403000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr19:51400600-51402800	Weak transcription	K562	blood
6	chr19:51401000-51401600	Enhancers	GM12878-XiMat	blood

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