Variant report

Variant	rs10136659
Chromosome Location	chr14:65377610-65377611
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr14:65377597-65377912	H1-hESC	embryonic stem cell:	n/a	chr14:65377769-65377788
2	CTCF	chr14:65377594-65377895	K562	blood:	n/a	chr14:65377772-65377788 chr14:65377766-65377787
3	RAD21	chr14:65377441-65378130	SK-N-SH	brain:	n/a	chr14:65377769-65377788
4	CTCF	chr14:65377509-65378151	MCF-7	breast:	n/a	chr14:65377772-65377788 chr14:65377766-65377787
5	RAD21	chr14:65377571-65378102	MCF-7	breast:	n/a	chr14:65377769-65377788
6	RAD21	chr14:65377515-65378017	MCF-7	breast:	n/a	chr14:65377769-65377788
7	RAD21	chr14:65377549-65378046	HCT-116	colon:	n/a	chr14:65377769-65377788
8	RAD21	chr14:65377547-65378101	A549	lung:	n/a	chr14:65377769-65377788
9	RAD21	chr14:65377524-65377952	HepG2	liver:	n/a	chr14:65377769-65377788
10	ZNF384	chr14:65377507-65377952	K562	blood:	n/a	n/a
11	CTCF	chr14:65377348-65378173	A549	lung:	n/a	chr14:65377772-65377788 chr14:65377766-65377787
12	RAD21	chr14:65377598-65377932	SK-N-SH_RA	brain:	n/a	chr14:65377769-65377788
13	CTCF	chr14:65377551-65378020	MCF-7	breast:	n/a	chr14:65377772-65377788 chr14:65377766-65377787
14	CTCF	chr14:65377440-65378165	SK-N-SH	brain:	n/a	chr14:65377772-65377788 chr14:65377766-65377787
15	SMC3	chr14:65377462-65378067	SK-N-SH	brain:	n/a	chr14:65377773-65377787
16	RAD21	chr14:65377608-65377950	Hela-S3	cervix:	n/a	chr14:65377769-65377788
17	CTCF	chr14:65377583-65377958	K562	blood:	n/a	chr14:65377772-65377788 chr14:65377766-65377787
18	RAD21	chr14:65377584-65378034	ECC-1	luminal epithelium:	n/a	chr14:65377769-65377788
19	RAD21	chr14:65377596-65377917	SK-N-SH_RA	brain:	n/a	chr14:65377769-65377788
20	RAD21	chr14:65377539-65378028	H1-hESC	embryonic stem cell:	n/a	chr14:65377769-65377788
21	RAD21	chr14:65377560-65378018	ECC-1	luminal epithelium:	n/a	chr14:65377769-65377788
22	RAD21	chr14:65377521-65377953	A549	lung:	n/a	chr14:65377769-65377788
23	CTCF	chr14:65377524-65378108	HCT-116	colon:	n/a	chr14:65377772-65377788 chr14:65377766-65377787
24	RAD21	chr14:65377442-65378003	HCT-116	colon:	n/a	chr14:65377769-65377788
25	CTCF	chr14:65377589-65377954	A549	lung:	n/a	chr14:65377772-65377788 chr14:65377766-65377787
26	CTCF	chr14:65377608-65377969	GM12878	blood:	n/a	chr14:65377772-65377788 chr14:65377766-65377787
27	CTCF	chr14:65377598-65377934	HepG2	liver:	n/a	chr14:65377772-65377788 chr14:65377766-65377787
28	CTCF	chr14:65377513-65378033	HCT-116	colon:	n/a	chr14:65377772-65377788 chr14:65377766-65377787
29	CTCF	chr14:65377594-65377980	IMR90	lung:	n/a	chr14:65377772-65377788 chr14:65377766-65377787

No.	Distal block	Cell Line	Cell type
1	chr14:65290012..65290932-chr14:65377431..65378083,2	MCF-7	breast:
2	chr14:65376890..65379070-chr14:65449089..65451973,3	MCF-7	breast:
3	chr14:65376789..65378335-chr14:65383134..65384665,2	MCF-7	breast:
4	chr14:65263268..65264769-chr14:65377543..65379077,2	K562	blood:
5	chr14:65376372..65378588-chr14:65381042..65383849,2	K562	blood:
6	chr14:65377331..65378166-chr14:65449998..65450968,5	MCF-7	breast:

Variant related genes	Relation type
CHURC1	TF binding region
RPPH1-2P	TF binding region
FNTB	TF binding region
CHURC1-FNTB	TF binding region
ENSG00000258289	Chromatin interaction
ENSG00000125954	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10138545	1.00[ASN][1000 genomes]
rs11158561	1.00[JPT][hapmap]
rs11845923	1.00[ASN][1000 genomes]
rs17180350	1.00[JPT][hapmap]
rs17880758	1.00[ASN][1000 genomes]
rs4899147	1.00[JPT][hapmap]
rs4899149	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4902328	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902330	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4902342	1.00[ASN][1000 genomes]
rs74056628	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	esv3693169	chr14:65344400-65381068	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv1311	chr14:65352722-65379802	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10136659	CHURC1	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65373800-65379000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr14:65374000-65379200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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