Variant report

Variant	rs6114193
Chromosome Location	chr20:23586849-23586850
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr20:23586513-23587004	HepG2	liver:	n/a	n/a
2	CTCF	chr20:23586740-23586890	HMEC	breast:	n/a	n/a
3	RAD21	chr20:23586641-23586988	HepG2	liver:	n/a	n/a
4	RAD21	chr20:23586590-23587664	H1-hESC	embryonic stem cell:	n/a	chr20:23587214-23587227 chr20:23587213-23587225 chr20:23587371-23587390
5	CTCF	chr20:23586680-23586930	HepG2	liver:	n/a	n/a
6	CTCF	chr20:23586768-23586877	MCF-7	breast:	n/a	n/a
7	CTCF	chr20:23586720-23586870	HepG2	liver:	n/a	n/a
8	CTCF	chr20:23586777-23586859	NHEK	skin:	n/a	n/a
9	CTCF	chr20:23586802-23586857	MCF-7	breast:	n/a	n/a
10	RAD21	chr20:23586588-23587661	H1-hESC	embryonic stem cell:	n/a	chr20:23587214-23587227 chr20:23587213-23587225 chr20:23587371-23587390
11	CTCF	chr20:23586760-23586910	HMEC	breast:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr20:23586803-23586853	NHDF-neo	bronchial:	n/a
2	chr20:23586803-23586853	HRCEpiC	kidney:	n/a
3	chr20:23586803-23586853	AG09309	skin:	n/a
4	chr20:23586803-23586853	SAEC	small airway:	n/a
5	chr20:23586803-23586853	HUVEC	blood vessel:	n/a
6	chr20:23586803-23586853	ProgFib	skin:	n/a
7	chr20:23586803-23586853	HEEpiC	esophagus:	n/a
8	chr20:23586803-23586853	HMEC	breast:	n/a
9	chr20:23586803-23586853	NH-A	brain:	n/a
10	chr20:23586803-23586853	Hela-S3	cervix:	n/a
11	chr20:23586803-23586853	Caco-2	colon:	n/a
12	chr20:23586803-23586853	BE2_C	brain:	n/a
13	chr20:23586803-23586853	Hepatocyte	liver:	n/a
14	chr20:23586803-23586853	SK-N-MC	brain:	n/a
15	chr20:23586803-23586853	HL-60	blood:	n/a
16	chr20:23586803-23586853	GM12892	blood:	n/a
17	chr20:23586803-23586853	HRE	kidney:	n/a
18	chr20:23586803-23586853	Jurkat	blood:	n/a
19	chr20:23586803-23586853	BJ	skin:	n/a
20	chr20:23586803-23586853	HIPEpiC	eye:	n/a
21	chr20:23586803-23586853	H1-hESC	embryonic stem cell:	embryo
22	chr20:23586803-23586853	HEK293	kidney:	embryo
23	chr20:23586803-23586853	HAEpiC	amniotic membrane:	n/a
24	chr20:23586803-23586853	GM12891	blood:	n/a
25	chr20:23586803-23586853	AG04449	skin:	fetal
26	chr20:23586803-23586853	HepG2	liver:	n/a
27	chr20:23586803-23586853	AG04450	lung:	fetal
28	chr20:23586803-23586853	ovcar-3	ovarian:	n/a
29	chr20:23586803-23586853	SK-N-SH_RA	brain:	n/a
30	chr20:23586803-23586853	U87	brain:	n/a
31	chr20:23586803-23586853	SKMC	muscle:	n/a
32	chr20:23586803-23586853	HRPEpiC	eye:	n/a
33	chr20:23586803-23586853	PFSK-1	brain:	n/a
34	chr20:23586803-23586853	MCF10A-Er-Src	breast:	n/a
35	chr20:23586803-23586853	MCF-7	breast:	n/a
36	chr20:23586803-23586853	HPAEpiC	pulmonary alveolar:	n/a
37	chr20:23586803-23586853	GM06990	blood:	n/a
38	chr20:23586803-23586853	HCT-116	colon:	n/a
39	chr20:23586803-23586853	T-47D	breast:	n/a
40	chr20:23586803-23586853	RPTEC	kidney:	n/a
41	chr20:23586803-23586853	ECC-1	luminal epithelium:	n/a
42	chr20:23586803-23586853	HCPEpiC	choroid plexus:	n/a
43	chr20:23586803-23586853	SK-N-SH	brain:	n/a
44	chr20:23586803-23586853	GM12878	blood:	n/a
45	chr20:23586803-23586853	AoSMC	blood vessel:	n/a
46	chr20:23586803-23586853	NT2-D1	testis:	n/a
47	chr20:23586803-23586853	PrEC	prostate:	n/a
48	chr20:23586803-23586853	K562	blood:	n/a
49	chr20:23586803-23586853	HCM	heart:	n/a
50	chr20:23586803-23586853	LNCaP	prostate:	n/a

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:23330189..23333651-chr20:23586751..23589419,5	MCF-7	breast:
2	chr20:23426997..23427916-chr20:23586801..23588394,7	MCF-7	breast:

No data

Variant related genes	Relation type
CST9	TF binding region
CST9	CpG island
ENSG00000132661	Chromatin interaction
ENSG00000234832	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1966182	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2405390	1.00[EUR][1000 genomes]
rs2405391	1.00[EUR][1000 genomes]
rs56326647	0.86[EUR][1000 genomes]
rs57526954	1.00[EUR][1000 genomes]
rs60569976	1.00[EUR][1000 genomes]
rs6106686	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6114187	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6114188	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6114194	0.99[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6515370	1.00[EUR][1000 genomes]
rs73902104	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491876	chr20:23436633-24031374	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23583400-23594000	Weak transcription	Right Atrium	heart
2	chr20:23583600-23587600	Weak transcription	Spleen	Spleen
3	chr20:23584000-23587000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr20:23584000-23587400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr20:23584000-23587400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr20:23584200-23587400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr20:23585000-23588800	Enhancers	Fetal Thymus	thymus
8	chr20:23586000-23588600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr20:23586200-23587200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr20:23586600-23590000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr20:23586800-23589000	Enhancers	HepG2	liver

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