Variant report

Variant	rs12979526
Chromosome Location	chr19:51848260-51848261
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:51845282-51851367	HepG2	liver:	n/a	n/a
2	POLR2A	chr19:51845064-51849145	HepG2	liver:	n/a	n/a
3	HEY1	chr19:51847806-51848687	HepG2	liver:	n/a	n/a
4	POLR2A	chr19:51847874-51848785	HepG2	liver:	n/a	n/a
5	POLR2A	chr19:51847980-51848372	K562	blood:	n/a	n/a
6	POLR2A	chr19:51841814-51851408	HepG2	liver:	n/a	n/a
7	MTA3	chr19:51847414-51848327	GM12878	blood:	n/a	n/a
8	POLR2A	chr19:51845860-51848948	A549	lung:	n/a	n/a
9	POLR2A	chr19:51847907-51849673	HepG2	liver:	n/a	n/a
10	POLR2A	chr19:51845184-51849505	K562	blood:	n/a	n/a
11	POLR2A	chr19:51847927-51848372	HepG2	liver:	n/a	n/a
12	MYBL2	chr19:51847874-51848396	HepG2	liver:	n/a	n/a
13	POLR2A	chr19:51844742-51856690	HepG2	liver:	n/a	n/a
14	POLR2A	chr19:51847865-51848283	U87	brain:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr19:51847346..51848930-chr19:51897301..51899895,2	K562	blood:
2	chr19:51846273..51849020-chr19:51857780..51860916,3	K562	blood:
3	chr19:51848237..51856350-chr19:51866106..51872931,10	MCF-7	breast:

No data

Variant related genes	Relation type
VSIG10L	TF binding region
ENSG00000267984	TF binding region
ENSG00000268889	Chromatin interaction
ENSG00000160318	Chromatin interaction
ENSG00000268520	Chromatin interaction
ENSG00000105379	Chromatin interaction
ENSG00000269403	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12975011	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12976097	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12977906	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12981254	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2411326	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59890391	0.90[EUR][1000 genomes]
rs8102334	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8102664	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8107232	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8107235	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8107468	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
3	esv1813225	chr19:51821612-51888813	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
4	nsv912294	chr19:51844978-51878841	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51843000-51852200	Weak transcription	Fetal Heart	heart
2	chr19:51843000-51857600	Weak transcription	Fetal Kidney	kidney
3	chr19:51843200-51857400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr19:51843600-51854000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr19:51843800-51848600	Weak transcription	Primary hematopoietic stem cells	blood
6	chr19:51843800-51848800	Enhancers	Primary B cells from peripheral blood	blood
7	chr19:51843800-51849600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr19:51843800-51854400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr19:51843800-51857600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr19:51844000-51848400	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr19:51844000-51848400	Weak transcription	NHEK	skin
12	chr19:51844000-51849600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr19:51844000-51849800	Weak transcription	Brain Angular Gyrus	brain
14	chr19:51844000-51849800	Weak transcription	NHLF	lung
15	chr19:51844000-51850000	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr19:51844000-51850200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr19:51844000-51851800	Weak transcription	HSMM	muscle
18	chr19:51844000-51852000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr19:51844000-51857400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr19:51844000-51865800	Weak transcription	Small Intestine	intestine
21	chr19:51844000-51866400	Weak transcription	Right Atrium	heart
22	chr19:51844200-51848400	Weak transcription	Rectal Smooth Muscle	rectum
23	chr19:51844200-51853400	Weak transcription	Colon Smooth Muscle	Colon
24	chr19:51844200-51854200	Weak transcription	Psoas Muscle	Psoas
25	chr19:51844200-51857200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr19:51844200-51857600	Weak transcription	NH-A	brain
27	chr19:51844400-51848400	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr19:51844400-51848400	Weak transcription	NHDF-Ad	bronchial
29	chr19:51844600-51848400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr19:51845000-51848400	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr19:51845400-51849800	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr19:51845800-51856400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr19:51846000-51848800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr19:51846000-51857600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr19:51846200-51852800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr19:51846200-51856400	Weak transcription	Fetal Brain Male	brain
37	chr19:51846200-51857400	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr19:51846200-51857600	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr19:51846400-51848600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr19:51846400-51854200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr19:51846400-51857200	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr19:51846400-51857200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr19:51846400-51857400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr19:51846400-51857400	Weak transcription	Stomach Mucosa	stomach
45	chr19:51846600-51848800	Weak transcription	K562	blood
46	chr19:51846600-51855600	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr19:51846600-51857400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr19:51846600-51857600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr19:51846800-51849000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr19:51847000-51851000	Strong transcription	Fetal Intestine Small	intestine

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