Variant report

Variant	rs7256774
Chromosome Location	chr19:51897703-51897704
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	MTA3	chr19:51897045-51899150	GM12878	blood:	n/a	n/a
2	GABPA	chr19:51897343-51898041	K562	blood:	n/a	chr19:51897759-51897768 chr19:51897837-51897846 chr19:51897837-51897848 chr19:51897834-51897848
3	NFYB	chr19:51897382-51897969	Hela-S3	cervix:	n/a	chr19:51897652-51897667 chr19:51897709-51897723 chr19:51897712-51897724 chr19:51897708-51897723 chr19:51897655-51897665 chr19:51897654-51897669 chr19:51897652-51897667 chr19:51897711-51897721 chr19:51897710-51897723 chr19:51897708-51897723
4	TAF1	chr19:51897208-51898127	A549	lung:	n/a	n/a
5	SIN3AK20	chr19:51897680-51898085	A549	lung:	n/a	n/a
6	BHLHE40	chr19:51897307-51898007	K562	blood:	n/a	n/a
7	GABPA	chr19:51897315-51897788	Hela-S3	cervix:	n/a	chr19:51897759-51897768
8	ZBTB7A	chr19:51897356-51898066	K562	blood:	n/a	n/a
9	ELF1	chr19:51897207-51898093	GM12878	blood:	n/a	n/a
10	POLR2A	chr19:51897369-51898062	Gliobla	brain:	n/a	n/a
11	FOXM1	chr19:51897346-51898056	ECC-1	luminal epithelium:	n/a	n/a
12	ARID3A	chr19:51897142-51897847	K562	blood:	n/a	n/a
13	GTF2B	chr19:51897425-51898026	K562	blood:	n/a	n/a
14	TAF1	chr19:51897166-51898200	H1-hESC	embryonic stem cell:	n/a	n/a
15	MYC	chr19:51897212-51898083	K562	blood:	n/a	n/a
16	SP2	chr19:51897403-51897834	K562	blood:	n/a	chr19:51897710-51897720
17	MYBL2	chr19:51897264-51897971	HepG2	liver:	n/a	n/a
18	POLR2A	chr19:51897419-51898121	HUVEC	blood vessel:	n/a	n/a
19	POLR2A	chr19:51897662-51898071	GM12878	blood:	n/a	n/a
20	SP1	chr19:51897233-51897935	H1-hESC	embryonic stem cell:	n/a	chr19:51897667-51897679 chr19:51897667-51897679 chr19:51897701-51897722 chr19:51897517-51897531
21	FOXM1	chr19:51897380-51897921	ECC-1	luminal epithelium:	n/a	n/a
22	ELF1	chr19:51897131-51897924	A549	lung:	n/a	n/a
23	RCOR1	chr19:51897276-51897953	HepG2	liver:	n/a	n/a
24	MAX	chr19:51897288-51898070	H1-hESC	embryonic stem cell:	n/a	n/a
25	STAT3	chr19:51897454-51897901	MCF10A-Er-Src	breast:	n/a	n/a
26	NFIC	chr19:51897088-51898048	GM12878	blood:	n/a	chr19:51897220-51897236 chr19:51897219-51897236
27	NFYA	chr19:51897358-51898020	K562	blood:	n/a	chr19:51897652-51897667 chr19:51897709-51897723 chr19:51897712-51897724 chr19:51897708-51897723 chr19:51897655-51897665 chr19:51897652-51897667 chr19:51897711-51897721 chr19:51897710-51897723 chr19:51897708-51897723
28	BRCA1	chr19:51897525-51897835	HepG2	liver:	n/a	n/a
29	TCF7L2	chr19:51897612-51897856	PANC-1	pancreas:	n/a	n/a
30	SP1	chr19:51897056-51898295	HCT-116	colon:	n/a	chr19:51897667-51897679 chr19:51897667-51897679 chr19:51897701-51897722 chr19:51897517-51897531
31	MAX	chr19:51897476-51897954	HepG2	liver:	n/a	n/a
32	POLR2A	chr19:51897685-51898028	Hela-S3	cervix:	n/a	n/a
33	GABPA	chr19:51897368-51897906	GM12878	blood:	n/a	chr19:51897759-51897768 chr19:51897837-51897846 chr19:51897837-51897848 chr19:51897834-51897848
34	MXI1	chr19:51896896-51898500	SK-N-SH	brain:	n/a	n/a
35	ZBTB7A	chr19:51897315-51898256	K562	blood:	n/a	n/a
36	GABPA	chr19:51897420-51897847	HepG2	liver:	n/a	chr19:51897759-51897768 chr19:51897837-51897846
37	POLR2A	chr19:51897696-51898035	H1-hESC	embryonic stem cell:	n/a	n/a
38	SP2	chr19:51897393-51897865	H1-hESC	embryonic stem cell:	n/a	chr19:51897710-51897720
39	TAF1	chr19:51897247-51898050	H1-hESC	embryonic stem cell:	n/a	n/a
40	ZNF143	chr19:51897384-51897987	K562	blood:	n/a	n/a
41	TBP	chr19:51897195-51898039	GM12878	blood:	n/a	n/a
42	SRF	chr19:51897201-51898048	MCF-7	breast:	n/a	chr19:51897462-51897480
43	TBL1XR1	chr19:51897190-51898004	GM12878	blood:	n/a	n/a
44	TBL1XR1	chr19:51897358-51898319	K562	blood:	n/a	n/a
45	POLR2A	chr19:51897618-51899052	GM12892	blood:	n/a	n/a
46	POLR2A	chr19:51897363-51898260	MCF-7	breast:	n/a	n/a
47	POLR2A	chr19:51897686-51898507	GM12892	blood:	n/a	n/a
48	POLR2A	chr19:51897232-51899094	GM18951	blood:	n/a	n/a
49	IRF3	chr19:51897293-51897815	Hela-S3	cervix:	n/a	chr19:51897520-51897534 chr19:51897665-51897679 chr19:51897712-51897721
50	BRCA1	chr19:51897470-51897952	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:51869234..51872471-chr19:51897367..51899516,3	MCF-7	breast:
2	chr19:51895053..51897765-chr19:52007493..52009642,2	K562	blood:
3	chr19:51897297..51899400-chr19:52095029..52099296,3	K562	blood:
4	chr19:51840838..51845657-chr19:51892354..51900411,18	K562	blood:
5	chr19:51897676..51900576-chr19:51905401..51907897,3	K562	blood:
6	chr19:51896400..51903695-chr19:51903717..51912186,11	K562	blood:
7	chr19:51847346..51848930-chr19:51897301..51899895,2	K562	blood:
8	chr19:51841257..51845442-chr19:51896216..51899567,12	K562	blood:
9	chr19:51896384..51897937-chr19:51904154..51907057,2	MCF-7	breast:
10	chr19:51897392..51898223-chr9:20684270..20685038,2	Hela-S3	cervix:
11	chr19:51867772..51875803-chr19:51892381..51899756,21	K562	blood:
12	chr19:51864453..51872845-chr19:51892428..51902096,29	K562	blood:
13	chr19:51889349..51894566-chr19:51895156..51899826,6	K562	blood:
14	chr19:51868903..51871265-chr19:51897328..51899243,2	MCF-7	breast:
15	chr19:51889722..51893942-chr19:51894149..51900029,8	K562	blood:

Variant related genes	Relation type
ENSG00000268889	TF binding region
C19orf84	TF binding region
ENSG00000105370	Chromatin interaction
ENSG00000268839	Chromatin interaction
ENSG00000186806	Chromatin interaction
ENSG00000105379	Chromatin interaction
ENSG00000227071	Chromatin interaction
ENSG00000269388	Chromatin interaction
ENSG00000105374	Chromatin interaction
ENSG00000262874	Chromatin interaction
ENSG00000160318	Chromatin interaction
ENSG00000268520	Chromatin interaction
ENSG00000269403	Chromatin interaction
ENSG00000267905	Chromatin interaction
ENSG00000268144	Chromatin interaction
ENSG00000167765	Chromatin interaction
ENSG00000267984	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12327847	0.88[YRI][hapmap];0.81[AFR][1000 genomes]
rs7256764	0.87[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066308	chr19:51680133-52103974	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv544049	chr19:51680133-52103974	Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51896800-51898000	Enhancers	Sigmoid Colon	Sigmoid Colon
2	chr19:51896800-51898200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr19:51896800-51898600	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr19:51897000-51897800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr19:51897000-51897800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr19:51897000-51897800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr19:51897000-51897800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
8	chr19:51897000-51897800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr19:51897000-51897800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr19:51897000-51897800	Active TSS	Brain Angular Gyrus	brain
11	chr19:51897000-51897800	Active TSS	Brain Germinal Matrix	brain
12	chr19:51897000-51897800	Active TSS	Brain Hippocampus Middle	brain
13	chr19:51897000-51897800	Active TSS	Brain Inferior Temporal Lobe	brain
14	chr19:51897000-51897800	Active TSS	Colonic Mucosa	Colon
15	chr19:51897000-51897800	Enhancers	Lung	lung
16	chr19:51897000-51897800	Active TSS	Psoas Muscle	Psoas
17	chr19:51897000-51897800	Active TSS	Rectal Mucosa Donor 31	rectum
18	chr19:51897000-51897800	Active TSS	NHLF	lung
19	chr19:51897000-51898000	Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr19:51897000-51898000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
21	chr19:51897000-51898000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr19:51897000-51898000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr19:51897000-51898000	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
24	chr19:51897000-51898200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr19:51897000-51898200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr19:51897000-51898200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
27	chr19:51897000-51898200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
28	chr19:51897000-51898200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
29	chr19:51897000-51898200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr19:51897000-51898200	Flanking Active TSS	Adipose Nuclei	Adipose
31	chr19:51897000-51898200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
32	chr19:51897000-51898200	Active TSS	Fetal Kidney	kidney
33	chr19:51897000-51898200	Active TSS	Fetal Lung	lung
34	chr19:51897000-51898200	Flanking Active TSS	Placenta	Placenta
35	chr19:51897000-51898200	Active TSS	Rectal Mucosa Donor 29	rectum
36	chr19:51897000-51898200	Flanking Active TSS	Stomach Smooth Muscle	stomach
37	chr19:51897000-51898400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
38	chr19:51897000-51898400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
39	chr19:51897000-51898400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
40	chr19:51897000-51898400	Flanking Active TSS	Fetal Muscle Trunk	muscle
41	chr19:51897000-51898400	Active TSS	Rectal Smooth Muscle	rectum
42	chr19:51897000-51898400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
43	chr19:51897000-51898600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr19:51897000-51898600	Active TSS	HSMM	muscle
45	chr19:51897000-51898800	Active TSS	H9 Cell Line	embryonic stem cell
46	chr19:51897000-51898800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr19:51897000-51898800	Active TSS	iPS-15b Cell Line	embryonic stem cell
48	chr19:51897000-51898800	Active TSS	iPS-18 Cell Line	embryonic stem cell
49	chr19:51897000-51898800	Flanking Active TSS	Fetal Thymus	thymus
50	chr19:51897000-51899000	Active TSS	ES-I3 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links