Variant report

Variant	rs144254238
Chromosome Location	chr19:51400914-51400915
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	TBP	chr19:51399741-51400985	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	CEBPB	chr19:51399685-51400979	GM12878	blood:	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	FOXM1	chr19:51399719-51400928	GM12878	blood:	n/a	n/a
13	CTCF	chr19:51400880-51401030	GM12871	blood:	n/a	n/a
14	RELA	chr19:51399839-51401122	GM19099	blood:	n/a	n/a
15	EBF1	chr19:51399732-51401194	GM12878	blood:	n/a	n/a
16	MTA3	chr19:51399720-51401135	GM12878	blood:	n/a	n/a
17	EP300	chr19:51399719-51401397	GM12878	blood:	n/a	chr19:51400074-51400083
18	RAD21	chr19:51400841-51401105	H1-hESC	embryonic stem cell:	n/a	n/a
19	MAX	chr19:51399799-51401112	GM12878	blood:	n/a	chr19:51399997-51400008 chr19:51400109-51400120
20	RUNX3	chr19:51399667-51401253	GM12878	blood:	n/a	chr19:51400137-51400146
21	CTCF	chr19:51400900-51401050	GM12864	blood:	n/a	n/a
22	CTCF	chr19:51400860-51401130	GM12869	blood:	n/a	n/a
23	SP1	chr19:51399735-51401140	GM12878	blood:	n/a	chr19:51400737-51400750
24	STAT5A	chr19:51399721-51400994	GM12878	blood:	n/a	chr19:51400073-51400082
25	SREBP2	chr19:51399463-51401377	GM12878	blood:	n/a	n/a
26	WRNIP1	chr19:51399791-51401549	GM12878	blood:	n/a	n/a
27	TCF3	chr19:51399752-51401095	GM12878	blood:	n/a	n/a
28	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
29	RELA	chr19:51399845-51401050	GM19193	blood:	n/a	n/a
30	RELA	chr19:51399702-51401142	GM12891	blood:	n/a	n/a
31	POU2F2	chr19:51399658-51401090	GM12878	blood:	n/a	n/a
32	CHD1	chr19:51399763-51401491	GM12878	blood:	n/a	n/a
33	CTCF	chr19:51400828-51401197	GM12878	blood:	n/a	n/a
34	IKZF1	chr19:51399524-51401263	GM12878	blood:	n/a	n/a
35	RELA	chr19:51399763-51401112	GM10847	blood:	n/a	n/a
36	CTCF	chr19:51400908-51401122	MCF-7	breast:	n/a	n/a
37	MAX	chr19:51399768-51401079	GM12878	blood:	n/a	chr19:51399997-51400008 chr19:51400109-51400120
38	TBL1XR1	chr19:51399791-51401010	GM12878	blood:	n/a	n/a
39	MAZ	chr19:51399797-51401012	GM12878	blood:	n/a	chr19:51399997-51400008 chr19:51400109-51400120
40	BHLHE40	chr19:51399738-51401225	GM12878	blood:	n/a	n/a
41	RCOR1	chr19:51399819-51401581	GM12878	blood:	n/a	n/a
42	CTCF	chr19:51400911-51401120	MCF-7	breast:	n/a	n/a
43	MTA3	chr19:51399656-51401174	GM12878	blood:	n/a	n/a
44	CTCF	chr19:51400900-51401050	GM12874	blood:	n/a	n/a
45	RAD21	chr19:51400834-51401244	MCF-7	breast:	n/a	n/a
46	CTCF	chr19:51400880-51401030	HCT-116	colon:	n/a	n/a
47	CTCF	chr19:51400860-51401010	HCT-116	colon:	n/a	n/a
48	EP300	chr19:51399746-51401224	GM12878	blood:	n/a	chr19:51400074-51400083
49	CTCF	chr19:51400906-51401130	MCF-7	breast:	n/a	n/a
50	NFIC	chr19:51399736-51401276	GM12878	blood:	n/a	n/a

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:

Variant related genes	Relation type
KLKP1	TF binding region
ENSG00000197588	Chromatin interaction
ENSG00000167747	Chromatin interaction
ENSG00000167749	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:7 , 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	chr19:51399800-51401000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr19:51399800-51401400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr19:51399800-51401600	Enhancers	HMEC	breast
5	chr19:51399800-51403000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr19:51400200-51401000	Flanking Active TSS	GM12878-XiMat	blood
7	chr19:51400600-51402800	Weak transcription	K562	blood

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