Variant report

Variant	rs62565773
Chromosome Location	chr9:86537404-86537405
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:53)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:53 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr9:86537300-86537450	BE2_C	brain:	n/a	n/a
2	CTCF	chr9:86537340-86537490	WERI-Rb-1	eye:	n/a	n/a
3	CTCF	chr9:86537320-86537470	HA-sp	spinal cord:	n/a	n/a
4	CTCF	chr9:86537340-86537490	GM12878	blood:	n/a	n/a
5	CTCF	chr9:86537260-86537410	GM12871	blood:	n/a	n/a
6	CTCF	chr9:86537380-86537530	AG09319	gingival:	n/a	n/a
7	CTCF	chr9:86537318-86537488	MCF-7	breast:	n/a	n/a
8	CTCF	chr9:86537340-86537490	GM12874	blood:	n/a	n/a
9	CTCF	chr9:86537300-86537450	HCT-116	colon:	n/a	n/a
10	CTCF	chr9:86537300-86537450	MCF-7	breast:	n/a	n/a
11	CTCF	chr9:86537260-86537410	GM12872	blood:	n/a	n/a
12	CTCF	chr9:86537320-86537470	AG04449	skin:	n/a	n/a
13	CTCF	chr9:86537338-86537417	K562	blood:	n/a	n/a
14	SPI1	chr9:86537239-86537967	GM12878	blood:	n/a	n/a
15	CTCF	chr9:86537356-86537425	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTCF	chr9:86537340-86537490	GM12870	blood:	n/a	n/a
17	CTCF	chr9:86537313-86537507	GM19238	blood:	n/a	n/a
18	CTCF	chr9:86537346-86537469	MCF-7	breast:	n/a	n/a
19	CTCF	chr9:86537338-86537511	GM12878	blood:	n/a	n/a
20	CTCF	chr9:86537400-86537550	GM06990	blood:	n/a	n/a
21	CTCF	chr9:86537330-86537431	GM19239	blood:	n/a	n/a
22	CTCF	chr9:86537300-86537450	HAc	cerebellar:	n/a	n/a
23	CTCF	chr9:86537338-86537503	GM13977	blood:	n/a	n/a
24	CTCF	chr9:86537320-86537470	HBMEC	blood vessel:	n/a	n/a
25	CTCF	chr9:86537360-86537510	HEK293	kidney:	n/a	n/a
26	CTCF	chr9:86537379-86537485	HUVEC	blood vessel:	n/a	n/a
27	CTCF	chr9:86537346-86537470	GM10248	blood:	n/a	n/a
28	CTCF	chr9:86537280-86537430	RPTEC	kidney:	n/a	n/a
29	CTCF	chr9:86537325-86537506	GM12891	blood:	n/a	n/a
30	CTCF	chr9:86537339-86537479	A549	lung:	n/a	n/a
31	TEAD4	chr9:86537291-86537563	H1-hESC	embryonic stem cell:	n/a	n/a
32	CTCF	chr9:86537330-86537489	Fibrobl	skin:	n/a	n/a
33	CTCF	chr9:86537349-86537463	LNCaP	prostate:	n/a	n/a
34	CTCF	chr9:86537350-86537430	GM10266	blood:	n/a	n/a
35	CTCF	chr9:86537335-86537487	GM19240	blood:	n/a	n/a
36	CTCF	chr9:86537342-86537437	K562	blood:	n/a	n/a
37	CTCF	chr9:86537320-86537470	GM12864	blood:	n/a	n/a
38	CTCF	chr9:86537300-86537450	GM12873	blood:	n/a	n/a
39	CTCF	chr9:86537360-86537650	GM12871	blood:	n/a	n/a
40	CTCF	chr9:86537329-86537472	NHEK	skin:	n/a	n/a
41	CTCF	chr9:86537304-86537486	MCF-7	breast:	n/a	n/a
42	CTCF	chr9:86537292-86537500	MCF-7	breast:	n/a	n/a
43	CTCF	chr9:86537280-86537430	MCF-7	breast:	n/a	n/a
44	CTCF	chr9:86537327-86537498	MCF-7	breast:	n/a	n/a
45	CTCF	chr9:86537360-86537510	HBMEC	blood vessel:	n/a	n/a
46	CTCF	chr9:86537349-86537419	GM13976	blood:	n/a	n/a
47	CTCF	chr9:86537300-86537450	GM12867	blood:	n/a	n/a
48	CTCF	chr9:86537335-86537486	GM12892	blood:	n/a	n/a
49	CTCF	chr9:86537380-86537530	K562	blood:	n/a	n/a
50	CTCF	chr9:86537340-86537490	HCPEpiC	choroid plexus:	n/a	n/a

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:73941837..73944242-chr9:86536650..86538183,2	MCF-7	breast:
2	chr9:86236616..86242493-chr9:86533666..86537484,7	MCF-7	breast:
3	chr9:86237285..86238795-chr9:86535469..86537545,2	K562	blood:
4	chr9:86533247..86537973-chr9:86593370..86597981,20	MCF-7	breast:
5	chr9:86321176..86323111-chr9:86534764..86537575,5	MCF-7	breast:
6	chr9:86534503..86538702-chr9:86568820..86574555,7	MCF-7	breast:
7	chr9:86237271..86239294-chr9:86534482..86537409,3	MCF-7	breast:
8	chr9:86533593..86537892-chr9:86593047..86598677,10	K562	blood:
9	chr9:86534520..86537940-chr9:86592614..86595774,6	K562	blood:
10	chr9:86430622..86432919-chr9:86535075..86537489,2	MCF-7	breast:
11	chr9:86534003..86537844-chr9:86570557..86574103,8	K562	blood:
12	chr9:86535076..86537991-chr9:86590146..86593000,2	K562	blood:
13	chr9:86533979..86537502-chr9:86594012..86596999,11	MCF-7	breast:
14	chr9:86535411..86537432-chr9:127629716..127632471,2	MCF-7	breast:
15	chr9:86534561..86538164-chr9:86570673..86573880,3	K562	blood:
16	chr9:86321248..86324502-chr9:86534491..86537588,5	MCF-7	breast:

No data

Variant related genes	Relation type
KIF27	TF binding region
ENSG00000135018	Chromatin interaction
ENSG00000136950	Chromatin interaction
ENSG00000254473	Chromatin interaction
ENSG00000165113	Chromatin interaction
ENSG00000165118	Chromatin interaction
ENSG00000165119	Chromatin interaction
ENSG00000148057	Chromatin interaction
ENSG00000178966	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs2274915	0.81[EUR][1000 genomes]
rs34839949	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3737134	0.81[EUR][1000 genomes]
rs3737135	0.81[EUR][1000 genomes]
rs3793477	0.82[EUR][1000 genomes]
rs4269618	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58077086	0.92[AMR][1000 genomes]
rs60398007	0.87[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs60530960	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62561945	0.92[AMR][1000 genomes]
rs62561950	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62561959	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62563543	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62563544	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62563548	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62563551	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62564762	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62565777	0.87[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs7039995	0.87[AFR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7041180	0.96[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	nsv469859	chr9:86398152-86587957	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv482641	chr9:86398152-86587957	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	esv2758192	chr9:86414024-86603602	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	esv2759701	chr9:86414024-86603602	Enhancers Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
5	nsv8541	chr9:86469723-86593758	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	nsv438108	chr9:86488586-86542206	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
7	nsv831644	chr9:86534310-86704395	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:86535800-86537600	Active TSS	Primary hematopoietic stem cells short term culture	blood
2	chr9:86536600-86571000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr9:86537000-86537600	Enhancers	Primary B cells from cord blood	blood
4	chr9:86537000-86537800	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr9:86537000-86537800	Enhancers	Primary B cells from peripheral blood	blood
6	chr9:86537000-86543800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr9:86537000-86553600	Weak transcription	Fetal Intestine Small	intestine
8	chr9:86537000-86553600	Weak transcription	Thymus	Thymus
9	chr9:86537200-86537600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr9:86537200-86537600	Enhancers	GM12878-XiMat	blood
11	chr9:86537200-86537600	Enhancers	Hela-S3	cervix
12	chr9:86537200-86537600	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr9:86537200-86545600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr9:86537400-86537600	Enhancers	Lung	lung

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