Variant report

Variant	rs11786021
Chromosome Location	chr8:95820969-95820970
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:104)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:104 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SMC3	chr8:95820933-95821105	HepG2	liver:	n/a	n/a
2	CTCF	chr8:95820880-95821030	AG09319	gingival:	n/a	n/a
3	CTCF	chr8:95820907-95821065	A549	lung:	n/a	n/a
4	RAD21	chr8:95820665-95821228	HCT-116	colon:	n/a	n/a
5	CTCF	chr8:95820860-95821010	HCPEpiC	choroid plexus:	n/a	n/a
6	CTCF	chr8:95820860-95821010	AG09319	gingival:	n/a	n/a
7	CTCF	chr8:95820954-95820984	GM19238	blood:	n/a	n/a
8	CTCF	chr8:95820813-95821139	IMR90	lung:	n/a	n/a
9	CTCF	chr8:95820962-95821035	HUVEC	blood vessel:	n/a	n/a
10	CTCF	chr8:95820901-95821060	LNCaP	prostate:	n/a	n/a
11	RAD21	chr8:95820818-95821102	HepG2	liver:	n/a	n/a
12	CTCF	chr8:95820880-95821030	K562	blood:	n/a	n/a
13	ZMIZ1	chr8:95820858-95821058	K562	blood:	n/a	n/a
14	CTCF	chr8:95820920-95821070	Hela-S3	cervix:	n/a	n/a
15	CTCF	chr8:95820840-95820990	RPTEC	kidney:	n/a	n/a
16	BHLHE40	chr8:95820868-95821085	K562	blood:	n/a	n/a
17	MYC	chr8:95820906-95821125	K562	blood:	n/a	n/a
18	CTCF	chr8:95820940-95821090	HMEC	breast:	n/a	n/a
19	CTCF	chr8:95820860-95821010	HVMF	connective:	n/a	n/a
20	RAD21	chr8:95820819-95821140	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTCF	chr8:95820958-95821027	LNCaP	prostate:	n/a	n/a
22	CTCF	chr8:95820963-95820982	GM20000	blood:	n/a	n/a
23	CTCF	chr8:95820797-95821109	K562	blood:	n/a	n/a
24	RAD21	chr8:95820815-95821187	A549	lung:	n/a	n/a
25	CTCF	chr8:95820919-95821063	Hela-S3	cervix:	n/a	n/a
26	CTCF	chr8:95820900-95821050	HRPEpiC	eye:	n/a	n/a
27	CTCF	chr8:95820880-95821030	HPF	lung:	n/a	n/a
28	CTCF	chr8:95820869-95821113	Medullo	brain:	n/a	n/a
29	ZC3H11A	chr8:95820907-95821073	K562	blood:	n/a	n/a
30	CTCF	chr8:95820766-95821139	MCF-7	breast:	n/a	n/a
31	CTCF	chr8:95820860-95821010	SK-N-SH_RA	brain:	n/a	n/a
32	CTCF	chr8:95820805-95821105	T-47D	breast:	n/a	n/a
33	CTCF	chr8:95820880-95821030	AG04450	lung:	n/a	n/a
34	CTCF	chr8:95820948-95821032	ProgFib	skin:	n/a	n/a
35	RAD21	chr8:95820721-95821215	MCF-7	breast:	n/a	n/a
36	RAD21	chr8:95820800-95821100	HepG2	liver:	n/a	n/a
37	CTCF	chr8:95820880-95821030	HVMF	connective:	n/a	n/a
38	CTCF	chr8:95820840-95820990	HA-sp	spinal cord:	n/a	n/a
39	CTCF	chr8:95820940-95821090	HRPEpiC	eye:	n/a	n/a
40	CTCF	chr8:95820860-95821010	HepG2	liver:	n/a	n/a
41	CTCF	chr8:95820920-95821070	HEEpiC	esophagus:	n/a	n/a
42	CTCF	chr8:95820946-95821041	Pancreas_OC	pancreas:	n/a	n/a
43	CTCF	chr8:95820931-95821072	MCF-7	breast:	n/a	n/a
44	CTCF	chr8:95820920-95821070	HPAF	blood vessel:	n/a	n/a
45	CTCF	chr8:95820687-95821324	HCT-116	colon:	n/a	n/a
46	CTCF	chr8:95820920-95821070	K562	blood:	n/a	n/a
47	CTCF	chr8:95820920-95821070	RPTEC	kidney:	n/a	n/a
48	CTCF	chr8:95820920-95821070	BJ	skin:	n/a	n/a
49	RAD21	chr8:95820815-95821123	Hela-S3	cervix:	n/a	n/a
50	RAD21	chr8:95820825-95821117	IMR90	lung:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:95815705..95817317-chr8:95819683..95821432,2	K562	blood:
2	chr8:95730308..95733697-chr8:95819325..95823735,5	MCF-7	breast:
3	chr8:95820853..95823547-chr8:95833687..95836070,2	MCF-7	breast:
4	chr8:95729949..95733435-chr8:95819627..95822552,3	MCF-7	breast:
5	chr8:95819563..95823488-chr8:95834071..95836286,3	MCF-7	breast:

No data

Variant related genes	Relation type
INTS8	TF binding region
ENSG00000156162	Chromatin interaction
ENSG00000164941	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10504939	1.00[JPT][hapmap]
rs10956927	0.88[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11774806	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11776131	0.97[ASN][1000 genomes]
rs11776489	0.97[ASN][1000 genomes]
rs11776687	0.93[ASN][1000 genomes]
rs11777353	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11778250	0.90[ASN][1000 genomes]
rs11778553	1.00[JPT][hapmap]
rs11779041	0.90[ASN][1000 genomes]
rs11779252	0.88[ASN][1000 genomes]
rs11779698	1.00[JPT][hapmap]
rs11781099	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11781188	0.90[ASN][1000 genomes]
rs11781429	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs11781757	1.00[JPT][hapmap]
rs11781843	1.00[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs11782617	0.89[CHD][hapmap];1.00[JPT][hapmap]
rs11782818	1.00[JPT][hapmap]
rs11783522	1.00[JPT][hapmap]
rs11783589	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs11783878	1.00[JPT][hapmap]
rs11783941	1.00[JPT][hapmap]
rs11784299	0.89[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11786088	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs11786389	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs11786429	0.97[ASN][1000 genomes]
rs11787377	0.93[ASN][1000 genomes]
rs11787442	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12056517	1.00[JPT][hapmap]
rs13250762	1.00[JPT][hapmap]
rs16893774	0.89[CHD][hapmap];1.00[JPT][hapmap]
rs16917079	0.89[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs16917081	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs16917082	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs16917093	1.00[JPT][hapmap]
rs16917102	0.89[CHD][hapmap];1.00[JPT][hapmap]
rs16917106	0.89[CHD][hapmap];1.00[JPT][hapmap]
rs16917117	0.89[CHD][hapmap];1.00[JPT][hapmap]
rs17359493	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs17665737	1.00[JPT][hapmap]
rs28399553	0.89[CHD][hapmap];1.00[JPT][hapmap]
rs3802191	1.00[JPT][hapmap]
rs4073916	0.93[AFR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4075834	0.89[CHD][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.93[ASN][1000 genomes]
rs4345531	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs4355737	0.97[ASN][1000 genomes]
rs57063661	0.93[ASN][1000 genomes]
rs57773845	0.93[ASN][1000 genomes]
rs58489999	0.90[ASN][1000 genomes]
rs58675831	0.90[ASN][1000 genomes]
rs59091366	0.93[ASN][1000 genomes]
rs59265059	0.93[ASN][1000 genomes]
rs59521030	0.93[ASN][1000 genomes]
rs60171840	0.93[ASN][1000 genomes]
rs6986418	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs6989591	0.89[CHD][hapmap];1.00[JPT][hapmap]
rs7009940	0.89[CHD][hapmap];1.00[JPT][hapmap]
rs716733	0.88[CHD][hapmap];1.00[JPT][hapmap]
rs73269162	0.93[ASN][1000 genomes]
rs73269170	0.93[ASN][1000 genomes]
rs73269188	0.93[ASN][1000 genomes]
rs73269191	0.90[ASN][1000 genomes]
rs73269198	0.93[ASN][1000 genomes]
rs73269199	0.93[ASN][1000 genomes]
rs7834966	0.89[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv532338	chr8:95296118-95971825	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs11786021	MATN2	cis	parietal	SCAN
rs11786021	INTS8	cis	lymphoblastoid	seeQTL
rs11786021	INTS8	cis	multi-tissue	Pritchard
rs11786021	INTS8	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95815800-95826600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr8:95818000-95824400	Weak transcription	Fetal Intestine Small	intestine
3	chr8:95819600-95821000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr8:95819800-95822600	Weak transcription	K562	blood
5	chr8:95820800-95821000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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