Variant report

Variant	rs6993525
Chromosome Location	chr8:19671104-19671105
allele	C/T
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	CTCF	chr8:19670791-19671200	K562	blood:	n/a	chr8:19670984-19670997 chr8:19670983-19671004 chr8:19670982-19670998 chr8:19670984-19670993 chr8:19670981-19670999
2	CTCF	chr8:19670960-19671110	GM12873	blood:	n/a	chr8:19670984-19670997 chr8:19670983-19671004 chr8:19670982-19670998 chr8:19670984-19670993 chr8:19670981-19670999
3	CTCF	chr8:19670820-19671140	H1-hESC	embryonic stem cell:	n/a	chr8:19670984-19670997 chr8:19670983-19671004 chr8:19670982-19670998 chr8:19670984-19670993 chr8:19670981-19670999
4	CTCF	chr8:19670827-19671109	LNCaP	prostate:	n/a	chr8:19670984-19670997 chr8:19670983-19671004 chr8:19670982-19670998 chr8:19670984-19670993 chr8:19670981-19670999
5	CTCF	chr8:19670960-19671110	HepG2	liver:	n/a	chr8:19670984-19670997 chr8:19670983-19671004 chr8:19670982-19670998 chr8:19670984-19670993 chr8:19670981-19670999
6	CTCF	chr8:19670861-19671132	GM12878	blood:	n/a	chr8:19670984-19670997 chr8:19670983-19671004 chr8:19670982-19670998 chr8:19670984-19670993 chr8:19670981-19670999
7	CTCF	chr8:19670864-19671105	MCF-7	breast:	n/a	chr8:19670984-19670997 chr8:19670983-19671004 chr8:19670982-19670998 chr8:19670984-19670993 chr8:19670981-19670999
8	RAD21	chr8:19670882-19671162	H1-hESC	embryonic stem cell:	n/a	chr8:19670982-19671001 chr8:19670985-19670998 chr8:19670987-19670997 chr8:19670987-19670999
9	CTCF	chr8:19670960-19671110	GM12864	blood:	n/a	chr8:19670984-19670997 chr8:19670983-19671004 chr8:19670982-19670998 chr8:19670984-19670993 chr8:19670981-19670999
10	CTCF	chr8:19670800-19671171	A549	lung:	n/a	chr8:19670984-19670997 chr8:19670983-19671004 chr8:19670982-19670998 chr8:19670984-19670993 chr8:19670981-19670999
11	CTCF	chr8:19670875-19671107	GM10266	blood:	n/a	chr8:19670984-19670997 chr8:19670983-19671004 chr8:19670982-19670998 chr8:19670984-19670993 chr8:19670981-19670999
12	CTCF	chr8:19670960-19671110	HUVEC	blood vessel:	n/a	chr8:19670984-19670997 chr8:19670983-19671004 chr8:19670982-19670998 chr8:19670984-19670993 chr8:19670981-19670999
13	CTCF	chr8:19670876-19671121	HepG2	liver:	n/a	chr8:19670984-19670997 chr8:19670983-19671004 chr8:19670982-19670998 chr8:19670984-19670993 chr8:19670981-19670999
14	CTCF	chr8:19670960-19671110	GM12874	blood:	n/a	chr8:19670984-19670997 chr8:19670983-19671004 chr8:19670982-19670998 chr8:19670984-19670993 chr8:19670981-19670999
15	CTCF	chr8:19670837-19671132	K562	blood:	n/a	chr8:19670984-19670997 chr8:19670983-19671004 chr8:19670982-19670998 chr8:19670984-19670993 chr8:19670981-19670999
16	JUND	chr8:19670865-19671137	K562	blood:	n/a	n/a
17	CTCF	chr8:19670960-19671110	HVMF	connective:	n/a	chr8:19670984-19670997 chr8:19670983-19671004 chr8:19670982-19670998 chr8:19670984-19670993 chr8:19670981-19670999
18	CTCF	chr8:19670863-19671104	GM13977	blood:	n/a	chr8:19670984-19670997 chr8:19670983-19671004 chr8:19670982-19670998 chr8:19670984-19670993 chr8:19670981-19670999
19	CTCF	chr8:19670788-19671112	A549	lung:	n/a	chr8:19670984-19670997 chr8:19670983-19671004 chr8:19670982-19670998 chr8:19670984-19670993 chr8:19670981-19670999
20	CTCF	chr8:19670960-19671110	GM12878	blood:	n/a	chr8:19670984-19670997 chr8:19670983-19671004 chr8:19670982-19670998 chr8:19670984-19670993 chr8:19670981-19670999
21	CTCF	chr8:19670641-19671296	SK-N-SH	brain:	n/a	chr8:19670984-19670997 chr8:19670983-19671004 chr8:19670982-19670998 chr8:19670984-19670993 chr8:19670981-19670999
22	SMC3	chr8:19670838-19671113	K562	blood:	n/a	chr8:19670983-19670997 chr8:19670987-19670997 chr8:19670983-19670991
23	CTCF	chr8:19670818-19671131	H1-hESC	embryonic stem cell:	n/a	chr8:19670984-19670997 chr8:19670983-19671004 chr8:19670982-19670998 chr8:19670984-19670993 chr8:19670981-19670999
24	CTCF	chr8:19670676-19671362	A549	lung:	n/a	chr8:19670984-19670997 chr8:19670983-19671004 chr8:19670982-19670998 chr8:19670984-19670993 chr8:19670981-19670999
25	CTCF	chr8:19670960-19671110	GM12869	blood:	n/a	chr8:19670984-19670997 chr8:19670983-19671004 chr8:19670982-19670998 chr8:19670984-19670993 chr8:19670981-19670999
26	CTCF	chr8:19670860-19671120	LNCaP	prostate:	n/a	chr8:19670984-19670997 chr8:19670983-19671004 chr8:19670982-19670998 chr8:19670984-19670993 chr8:19670981-19670999
27	CTCF	chr8:19670867-19671202	K562	blood:	n/a	chr8:19670984-19670997 chr8:19670983-19671004 chr8:19670982-19670998 chr8:19670984-19670993 chr8:19670981-19670999
28	ZNF143	chr8:19670828-19671171	K562	blood:	n/a	n/a
29	ZNF143	chr8:19670823-19671169	GM12878	blood:	n/a	n/a
30	ZNF143	chr8:19670823-19671125	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr8:19670980-19671130	GM12864	blood:	n/a	chr8:19670984-19670997 chr8:19670983-19671004 chr8:19670982-19670998 chr8:19670984-19670993 chr8:19670981-19670999
32	CTCF	chr8:19670842-19671142	HUVEC	blood vessel:	n/a	chr8:19670984-19670997 chr8:19670983-19671004 chr8:19670982-19670998 chr8:19670984-19670993 chr8:19670981-19670999
33	CTCF	chr8:19670811-19671159	IMR90	lung:	n/a	chr8:19670984-19670997 chr8:19670983-19671004 chr8:19670982-19670998 chr8:19670984-19670993 chr8:19670981-19670999
34	CTCF	chr8:19671000-19671150	HCM	heart:	n/a	n/a
35	CTCF	chr8:19670802-19671160	HepG2	liver:	n/a	chr8:19670984-19670997 chr8:19670983-19671004 chr8:19670982-19670998 chr8:19670984-19670993 chr8:19670981-19670999
36	CTCF	chr8:19670881-19671108	Lung_OC	lung:	n/a	chr8:19670984-19670997 chr8:19670983-19671004 chr8:19670982-19670998 chr8:19670984-19670993 chr8:19670981-19670999
37	CTCF	chr8:19671040-19671190	WI-38	lung:	n/a	n/a
38	CTCF	chr8:19670795-19671152	K562	blood:	n/a	chr8:19670984-19670997 chr8:19670983-19671004 chr8:19670982-19670998 chr8:19670984-19670993 chr8:19670981-19670999
39	SMC3	chr8:19670814-19671159	GM12878	blood:	n/a	chr8:19670983-19670997 chr8:19670987-19670997 chr8:19670983-19670991
40	RAD21	chr8:19670795-19671166	SK-N-SH_RA	brain:	n/a	chr8:19670982-19671001 chr8:19670985-19670998 chr8:19670987-19670997 chr8:19670987-19670999
41	CTCF	chr8:19670868-19671116	K562	blood:	n/a	chr8:19670984-19670997 chr8:19670983-19671004 chr8:19670982-19670998 chr8:19670984-19670993 chr8:19670981-19670999
42	CTCF	chr8:19670960-19671110	NHDF-neo	bronchial:	n/a	chr8:19670984-19670997 chr8:19670983-19671004 chr8:19670982-19670998 chr8:19670984-19670993 chr8:19670981-19670999
43	CTCF	chr8:19671000-19671150	HA-sp	spinal cord:	n/a	n/a
44	RAD21	chr8:19670726-19671169	H1-hESC	embryonic stem cell:	n/a	chr8:19670982-19671001 chr8:19670985-19670998 chr8:19670987-19670997 chr8:19670987-19670999
45	SMC3	chr8:19670828-19671108	HepG2	liver:	n/a	chr8:19670983-19670997 chr8:19670987-19670997 chr8:19670983-19670991
46	RAD21	chr8:19670828-19671152	H1-hESC	embryonic stem cell:	n/a	chr8:19670982-19671001 chr8:19670985-19670998 chr8:19670987-19670997 chr8:19670987-19670999
47	CTCF	chr8:19670960-19671110	AG10803	skin:	n/a	chr8:19670984-19670997 chr8:19670983-19671004 chr8:19670982-19670998 chr8:19670984-19670993 chr8:19670981-19670999
48	CTCF	chr8:19670787-19671176	GM12878	blood:	n/a	chr8:19670984-19670997 chr8:19670983-19671004 chr8:19670982-19670998 chr8:19670984-19670993 chr8:19670981-19670999
49	RCOR1	chr8:19670839-19671153	K562	blood:	n/a	n/a
50	CTCF	chr8:19670840-19671115	Spleen_OC	spleen:	n/a	chr8:19670984-19670997 chr8:19670983-19671004 chr8:19670982-19670998 chr8:19670984-19670993 chr8:19670981-19670999

No.	Distal block	Cell Line	Cell type
1	chr8:19669332..19671786-chr8:19673916..19676517,3	MCF-7	breast:
2	chr8:19656532..19659284-chr8:19668673..19672507,3	K562	blood:
3	chr8:19670240..19671907-chr8:19673496..19676899,3	K562	blood:

Variant related genes	Relation type
INTS10	TF binding region
ENSG00000104613	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs17091534	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap];0.90[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3899017	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57462676	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57837509	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59259846	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59565447	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60329942	0.80[EUR][1000 genomes]
rs60369789	0.97[ASN][1000 genomes]
rs61180388	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62496731	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67989257	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6981306	0.88[ASN][1000 genomes]
rs6981674	0.96[ASN][1000 genomes]
rs7005767	0.97[CHD][hapmap];0.92[JPT][hapmap];0.84[ASN][1000 genomes]
rs7012358	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7461774	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7822495	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs7832638	0.96[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	nsv890625	chr8:19368697-19799641	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv610759	chr8:19561997-20068842	Enhancers Strong transcription Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6993525	INTS10	cis	multi-tissue	Pritchard

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19670600-19673800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr8:19670600-19673800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:19670600-19674000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:19671000-19671200	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
5	chr8:19671000-19671200	Enhancers	Primary B cells from peripheral blood	blood
6	chr8:19671000-19671200	Enhancers	Primary T cells fromperipheralblood	blood
7	chr8:19671000-19671200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
8	chr8:19671000-19671200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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