Variant report

Variant	rs16998502
Chromosome Location	chr20:52495903-52495904
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF143	chr20:52495717-52495951	GM12878	blood:	n/a	n/a
2	CTCF	chr20:52495780-52495930	GM12868	blood:	n/a	n/a
3	MAX	chr20:52495664-52495951	NB4	blood:	n/a	chr20:52495794-52495804
4	USF1	chr20:52495669-52495940	HepG2	liver:	n/a	chr20:52495793-52495804
5	MAX	chr20:52495620-52495987	K562	blood:	n/a	chr20:52495794-52495804
6	MAX	chr20:52495742-52495910	H1-hESC	embryonic stem cell:	n/a	chr20:52495794-52495804
7	TEAD4	chr20:52495461-52496085	A549	lung:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:52180490..52183070-chr20:52495040..52497313,2	K562	blood:
2	chr17:56708812..56710607-chr20:52494637..52496641,2	MCF-7	breast:
3	chr17:58602361..58603874-chr20:52495407..52498076,2	MCF-7	breast:
4	chr20:52495294..52498246-chr20:52538493..52540957,2	K562	blood:
5	chr20:52493164..52496400-chr20:52505534..52507273,4	K562	blood:
6	chr17:56735442..56738374-chr20:52495667..52498183,2	MCF-7	breast:
7	chr17:56707321..56709647-chr20:52494117..52495966,2	MCF-7	breast:
8	chr11:65196385..65197919-chr20:52494749..52497249,2	MCF-7	breast:
9	chr20:52194953..52196007-chr20:52494825..52495978,3	MCF-7	breast:

No data

Variant related genes	Relation type
SUMO1P1	TF binding region
ENSG00000062725	Chromatin interaction
ENSG00000202077	Chromatin interaction
ENSG00000259349	Chromatin interaction
ENSG00000212195	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs16998499	1.00[ASW][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16998533	1.00[EUR][1000 genomes]
rs16998893	1.00[MEX][hapmap]
rs57886257	1.00[EUR][1000 genomes]
rs58979406	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59046998	1.00[EUR][1000 genomes]
rs6022721	1.00[AMR][1000 genomes]
rs7262342	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73275816	1.00[EUR][1000 genomes]
rs73275820	1.00[EUR][1000 genomes]
rs73914417	1.00[EUR][1000 genomes]
rs73914419	1.00[EUR][1000 genomes]
rs73914429	1.00[EUR][1000 genomes]
rs73914430	1.00[EUR][1000 genomes]
rs73914434	1.00[EUR][1000 genomes]
rs8114189	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34060	chr20:52251863-52702186	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	296 gene(s)	inside rSNPs	diseases
2	nsv834008	chr20:52368660-52533410	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	185 gene(s)	inside rSNPs	diseases
3	nsv834009	chr20:52386050-52590795	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	182 gene(s)	inside rSNPs	diseases
4	nsv1060372	chr20:52409008-52502100	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	122 gene(s)	inside rSNPs	diseases
5	esv1831516	chr20:52437245-52514913	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	98 gene(s)	inside rSNPs	diseases
6	nsv586222	chr20:52473679-52506380	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	74 gene(s)	inside rSNPs	diseases
7	nsv586224	chr20:52474850-53279490	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	338 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52490200-52496600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr20:52490200-52499800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr20:52490200-52501200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr20:52490200-52502400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr20:52490600-52497800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr20:52492600-52496600	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr20:52492600-52501200	Weak transcription	Primary hematopoietic stem cells	blood
8	chr20:52494200-52500800	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr20:52494200-52501000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr20:52494400-52507400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr20:52494600-52496000	Enhancers	Fetal Intestine Small	intestine
12	chr20:52494800-52496800	Enhancers	Duodenum Mucosa	Duodenum
13	chr20:52494800-52496800	Enhancers	Fetal Intestine Large	intestine
14	chr20:52494800-52496800	Enhancers	A549	lung
15	chr20:52495000-52496000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr20:52495000-52496000	Enhancers	Sigmoid Colon	Sigmoid Colon
17	chr20:52495000-52496000	Enhancers	Small Intestine	intestine
18	chr20:52495000-52496000	Flanking Active TSS	HepG2	liver
19	chr20:52495000-52496200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr20:52495000-52496200	Enhancers	Spleen	Spleen
21	chr20:52495000-52496600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr20:52495000-52497000	Enhancers	Fetal Stomach	stomach
23	chr20:52495200-52496000	Enhancers	HUVEC	blood vessel
24	chr20:52495200-52496000	Enhancers	NHLF	lung
25	chr20:52495400-52496000	Enhancers	Fetal Muscle Leg	muscle
26	chr20:52495400-52497000	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr20:52495400-52497000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr20:52495400-52497000	Enhancers	K562	blood
29	chr20:52495400-52497200	Enhancers	GM12878-XiMat	blood
30	chr20:52495600-52496000	Enhancers	Primary T cells fromperipheralblood	blood
31	chr20:52495600-52496000	Enhancers	Muscle Satellite Cultured Cells	--
32	chr20:52495600-52496000	Enhancers	Liver	Liver
33	chr20:52495600-52496000	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
34	chr20:52495600-52496000	Enhancers	Monocytes-CD14+_RO01746	blood
35	chr20:52495600-52496200	Enhancers	Fetal Thymus	thymus
36	chr20:52495600-52500000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr20:52495800-52496000	Enhancers	Fetal Kidney	kidney
38	chr20:52495800-52496000	Enhancers	Lung	lung
39	chr20:52495800-52497400	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr20:52495800-52499400	Weak transcription	HSMM	muscle
41	chr20:52495800-52499600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr20:52495800-52501200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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