Variant report

Variant	rs28735879
Chromosome Location	chr19:51848195-51848196
allele	A/G
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:2)
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:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:51847346..51848930-chr19:51897301..51899895,2	K562	blood:
2	chr19:51846273..51849020-chr19:51857780..51860916,3	K562	blood:

No data

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

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

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

rs_ID	r²[population]
rs10414689	1.00[MEX][hapmap]
rs10422912	0.96[AFR][1000 genomes];0.91[AMR][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	chr19:51844000-51848200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr19:51844000-51848200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr19:51844000-51848200	Weak transcription	Aorta	Aorta
13	chr19:51844000-51848200	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr19:51844000-51848200	Weak transcription	Brain Substantia Nigra	brain
15	chr19:51844000-51848400	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr19:51844000-51848400	Weak transcription	NHEK	skin
17	chr19:51844000-51849600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr19:51844000-51849800	Weak transcription	Brain Angular Gyrus	brain
19	chr19:51844000-51849800	Weak transcription	NHLF	lung
20	chr19:51844000-51850000	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr19:51844000-51850200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr19:51844000-51851800	Weak transcription	HSMM	muscle
23	chr19:51844000-51852000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr19:51844000-51857400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr19:51844000-51865800	Weak transcription	Small Intestine	intestine
26	chr19:51844000-51866400	Weak transcription	Right Atrium	heart
27	chr19:51844200-51848200	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr19:51844200-51848200	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr19:51844200-51848400	Weak transcription	Rectal Smooth Muscle	rectum
30	chr19:51844200-51853400	Weak transcription	Colon Smooth Muscle	Colon
31	chr19:51844200-51854200	Weak transcription	Psoas Muscle	Psoas
32	chr19:51844200-51857200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr19:51844200-51857600	Weak transcription	NH-A	brain
34	chr19:51844400-51848200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr19:51844400-51848400	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr19:51844400-51848400	Weak transcription	NHDF-Ad	bronchial
37	chr19:51844600-51848200	Weak transcription	Colonic Mucosa	Colon
38	chr19:51844600-51848400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr19:51844800-51848200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr19:51845000-51848400	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr19:51845400-51849800	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr19:51845800-51856400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr19:51846000-51848200	Weak transcription	Fetal Muscle Trunk	muscle
44	chr19:51846000-51848800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr19:51846000-51857600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr19:51846200-51848200	Weak transcription	Fetal Thymus	thymus
47	chr19:51846200-51852800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr19:51846200-51856400	Weak transcription	Fetal Brain Male	brain
49	chr19:51846200-51857400	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr19:51846200-51857600	Weak transcription	HUES64 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links