Variant report

Variant	rs8098465
Chromosome Location	chr18:29537141-29537142
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:171)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:171 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr18:29536938-29537283	GM12878	blood:	n/a	n/a
2	CTCF	chr18:29537000-29537150	GM12865	blood:	n/a	n/a
3	RPC155	chr18:29536555-29537217	Hela-S3	cervix:	n/a	n/a
4	CTCF	chr18:29536978-29537216	Hela-S3	cervix:	n/a	n/a
5	RAD21	chr18:29536926-29537176	GM12878	blood:	n/a	n/a
6	IRF1	chr18:29537084-29537206	K562	blood:	n/a	n/a
7	KAP1	chr18:29537133-29537222	U2OS	brain:	n/a	n/a
8	CTCF	chr18:29537000-29537150	RPTEC	kidney:	n/a	n/a
9	CTCF	chr18:29537000-29537150	HCT-116	colon:	n/a	n/a
10	TBP	chr18:29536919-29537208	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr18:29537000-29537150	HMF	breast:	n/a	n/a
12	CTCF	chr18:29536982-29537230	NHEK	skin:	n/a	n/a
13	CTCF	chr18:29537000-29537150	BJ	skin:	n/a	n/a
14	CTCF	chr18:29537000-29537150	GM12869	blood:	n/a	n/a
15	CTCF	chr18:29537020-29537170	GM12870	blood:	n/a	n/a
16	CTCF	chr18:29537016-29537226	MCF-7	breast:	n/a	n/a
17	CTCF	chr18:29537000-29537150	GM12874	blood:	n/a	n/a
18	CTCF	chr18:29536901-29537208	K562	blood:	n/a	n/a
19	CEBPB	chr18:29537018-29537195	K562	blood:	n/a	n/a
20	CTCF	chr18:29536995-29537218	GM12892	blood:	n/a	n/a
21	CTCF	chr18:29537020-29537170	GM12869	blood:	n/a	n/a
22	CTCF	chr18:29537020-29537214	GM10266	blood:	n/a	n/a
23	CTCF	chr18:29536980-29537230	ProgFib	skin:	n/a	n/a
24	CTCF	chr18:29537000-29537150	HUVEC	blood vessel:	n/a	n/a
25	CTCF	chr18:29536917-29537187	H1-hESC	embryonic stem cell:	n/a	n/a
26	CTCF	chr18:29537009-29537201	Kidney_OC	kidney:	n/a	n/a
27	CTCF	chr18:29536990-29537224	Pancreas_OC	pancreas:	n/a	n/a
28	RAD21	chr18:29536928-29537244	K562	blood:	n/a	n/a
29	CTCF	chr18:29537000-29537150	HepG2	liver:	n/a	n/a
30	YY1	chr18:29536837-29537176	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr18:29536973-29537326	MCF-7	breast:	n/a	n/a
32	CTCF	chr18:29537000-29537150	HEK293	kidney:	n/a	n/a
33	CTCF	chr18:29536990-29537219	Fibrobl	skin:	n/a	n/a
34	RFX5	chr18:29536949-29537230	Hela-S3	cervix:	n/a	n/a
35	CTCF	chr18:29536976-29537210	LNCaP	prostate:	n/a	n/a
36	CTCF	chr18:29536909-29537189	HepG2	liver:	n/a	n/a
37	CTCF	chr18:29537014-29537215	MCF-7	breast:	n/a	n/a
38	TBP	chr18:29536936-29537202	K562	blood:	n/a	n/a
39	YY1	chr18:29536920-29537182	HCT-116	colon:	n/a	n/a
40	CTCF	chr18:29537000-29537150	AG04450	lung:	n/a	n/a
41	RAD21	chr18:29536915-29537245	HepG2	liver:	n/a	n/a
42	CTCF	chr18:29536909-29537198	MCF-7	breast:	n/a	n/a
43	IRF1	chr18:29537031-29537151	K562	blood:	n/a	n/a
44	BHLHE40	chr18:29536923-29537211	HepG2	liver:	n/a	n/a
45	RAD21	chr18:29536817-29537291	H1-hESC	embryonic stem cell:	n/a	n/a
46	CEBPB	chr18:29536844-29537225	H1-hESC	embryonic stem cell:	n/a	n/a
47	CTCF	chr18:29536978-29537219	HUVEC	blood vessel:	n/a	n/a
48	CTCF	chr18:29536976-29537231	MCF-7	breast:	n/a	n/a
49	BHLHE40	chr18:29536920-29537206	K562	blood:	n/a	n/a
50	RAD21	chr18:29536725-29537347	H1-hESC	embryonic stem cell:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr18:29522234..29525588-chr18:29534457..29537204,4	MCF-7	breast:
2	chr18:29531400..29532947-chr18:29534853..29537297,2	K562	blood:
3	chr18:29523716..29526205-chr18:29536614..29539662,3	K562	blood:

No data

Variant related genes	Relation type
TRAPPC8	TF binding region
PGDP1	TF binding region
ENSG00000153339	Chromatin interaction
ENSG00000263823	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11659714	0.83[EUR][1000 genomes]
rs12326193	0.87[EUR][1000 genomes]
rs12607039	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12954934	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12965971	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2009538	0.97[ASN][1000 genomes]
rs2162378	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2421178	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28639693	0.87[EUR][1000 genomes]
rs4344833	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61736627	0.85[EUR][1000 genomes]
rs62093904	0.85[EUR][1000 genomes]
rs7504605	0.97[ASN][1000 genomes]
rs7504671	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8097835	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs972358	0.97[ASN][1000 genomes]
rs974124	0.97[ASN][1000 genomes]
rs9949272	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9950155	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9950809	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1067252	chr18:29475073-29583744	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv1065285	chr18:29527884-29614986	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29525600-29537400	Weak transcription	Duodenum Mucosa	Duodenum
2	chr18:29534400-29537400	Weak transcription	Fetal Intestine Large	intestine
3	chr18:29534800-29537200	Weak transcription	Hela-S3	cervix
4	chr18:29535200-29537200	Weak transcription	Fetal Intestine Small	intestine
5	chr18:29536800-29537400	Enhancers	Placenta	Placenta
6	chr18:29537000-29537600	Active TSS	HepG2	liver

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