Variant report

Variant	rs7701510
Chromosome Location	chr5:43228020-43228021
allele	G/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	RAD21	chr5:43227661-43228061	H1-hESC	embryonic stem cell:	n/a	chr5:43227875-43227894
2	GATA3	chr5:43227790-43228113	T-47D	breast:	n/a	n/a
3	RAD21	chr5:43227652-43228186	H1-hESC	embryonic stem cell:	n/a	chr5:43227875-43227894
4	RAD21	chr5:43227639-43228190	HepG2	liver:	n/a	chr5:43227875-43227894
5	FOXA1	chr5:43227842-43228141	T-47D	breast:	n/a	n/a
6	NR2F2	chr5:43227821-43228244	MCF-7	breast:	n/a	n/a
7	RAD21	chr5:43227654-43228087	MCF-7	breast:	n/a	chr5:43227875-43227894
8	SMC3	chr5:43227503-43228319	SK-N-SH	brain:	n/a	chr5:43227876-43227890
9	CTCF	chr5:43227638-43228143	A549	lung:	n/a	chr5:43227876-43227897 chr5:43227874-43227892 chr5:43227875-43227891
10	ATF2	chr5:43227977-43228236	GM12878	blood:	n/a	n/a
11	CTCF	chr5:43228000-43228150	GM12866	blood:	n/a	n/a
12	CTCF	chr5:43227880-43228030	NHEK	skin:	n/a	n/a
13	MAZ	chr5:43227770-43228028	K562	blood:	n/a	n/a
14	ZNF384	chr5:43227719-43228080	K562	blood:	n/a	n/a
15	RAD21	chr5:43227655-43228166	ECC-1	luminal epithelium:	n/a	chr5:43227875-43227894
16	CTCF	chr5:43227900-43228050	HAc	cerebellar:	n/a	n/a
17	RAD21	chr5:43227704-43228078	IMR90	lung:	n/a	chr5:43227875-43227894
18	EP300	chr5:43227775-43228027	K562	blood:	n/a	n/a
19	CTCF	chr5:43227765-43228027	HUVEC	blood vessel:	n/a	chr5:43227876-43227897 chr5:43227874-43227892 chr5:43227875-43227891
20	CTCF	chr5:43227880-43228030	WERI-Rb-1	eye:	n/a	n/a
21	RCOR1	chr5:43227880-43228123	K562	blood:	n/a	n/a
22	RUNX3	chr5:43227781-43228198	GM12878	blood:	n/a	n/a
23	CTCF	chr5:43227514-43228214	A549	lung:	n/a	chr5:43227876-43227897 chr5:43227563-43227571 chr5:43227874-43227892 chr5:43227875-43227891
24	SMC3	chr5:43227707-43228198	GM12878	blood:	n/a	chr5:43227876-43227890
25	CTCF	chr5:43227792-43228044	SK-N-SH_RA	brain:	n/a	chr5:43227876-43227897 chr5:43227874-43227892 chr5:43227875-43227891
26	CTCF	chr5:43227880-43228030	BE2_C	brain:	n/a	n/a
27	SMC3	chr5:43227589-43228181	Hela-S3	cervix:	n/a	chr5:43227876-43227890
28	CTCF	chr5:43227721-43228020	ECC-1	luminal epithelium:	n/a	chr5:43227876-43227897 chr5:43227874-43227892 chr5:43227875-43227891
29	FOXA2	chr5:43227841-43228091	HepG2	liver:	n/a	n/a
30	RAD21	chr5:43227793-43228159	MCF-7	breast:	n/a	chr5:43227875-43227894
31	CTCF	chr5:43227658-43228084	HepG2	liver:	n/a	chr5:43227876-43227897 chr5:43227874-43227892 chr5:43227875-43227891
32	RAD21	chr5:43227604-43228223	HCT-116	colon:	n/a	chr5:43227875-43227894
33	CTCF	chr5:43227670-43228183	MCF-7	breast:	n/a	chr5:43227876-43227897 chr5:43227874-43227892 chr5:43227875-43227891
34	RAD21	chr5:43227724-43228082	A549	lung:	n/a	chr5:43227875-43227894
35	CTCF	chr5:43227880-43228030	GM12874	blood:	n/a	n/a
36	CTCF	chr5:43227920-43228070	A549	lung:	n/a	n/a
37	RAD21	chr5:43227578-43228263	HCT-116	colon:	n/a	chr5:43227875-43227894
38	MYC	chr5:43227698-43228020	K562	blood:	n/a	n/a
39	RAD21	chr5:43227455-43228261	SK-N-SH	brain:	n/a	chr5:43227875-43227894
40	RAD21	chr5:43227726-43228039	K562	blood:	n/a	chr5:43227875-43227894
41	RAD21	chr5:43227716-43228091	HepG2	liver:	n/a	chr5:43227875-43227894
42	MAZ	chr5:43227952-43228114	HepG2	liver:	n/a	n/a
43	MAFK	chr5:43227742-43228127	K562	blood:	n/a	n/a
44	RAD21	chr5:43227709-43228123	GM12878	blood:	n/a	chr5:43227875-43227894
45	CTCF	chr5:43227748-43228164	HCT-116	colon:	n/a	chr5:43227876-43227897 chr5:43227874-43227892 chr5:43227875-43227891
46	CTCF	chr5:43227514-43228235	HCT-116	colon:	n/a	chr5:43227876-43227897 chr5:43227563-43227571 chr5:43227874-43227892 chr5:43227875-43227891
47	RAD21	chr5:43227680-43228048	GM12878	blood:	n/a	chr5:43227875-43227894
48	FOXA1	chr5:43227736-43228186	T-47D	breast:	n/a	n/a
49	SMC3	chr5:43227744-43228065	HepG2	liver:	n/a	chr5:43227876-43227890
50	RAD21	chr5:43227688-43228150	Hela-S3	cervix:	n/a	chr5:43227875-43227894

No.	Distal block	Cell Line	Cell type
1	chr5:43226629..43229154-chr5:43483470..43486181,2	MCF-7	breast:
2	chr5:43227602..43229256-chr5:43233740..43235584,2	K562	blood:
3	chr5:43105767..43106271-chr5:43227652..43228160,2	MCF-7	breast:
4	chr5:43227020..43228335-chr5:43389426..43390712,10	MCF-7	breast:
5	chr5:43226269..43228614-chr5:43482869..43484642,2	MCF-7	breast:
6	chr5:43227474..43228357-chr5:43305769..43306669,2	MCF-7	breast:
7	chr5:43227884..43228474-chr5:43389584..43390224,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000249888	TF binding region
ENSG00000151881	Chromatin interaction
ENSG00000249492	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10044563	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10058374	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs10074873	0.83[CHD][hapmap];0.81[JPT][hapmap]
rs10075647	0.82[CHB][hapmap]
rs10078527	0.88[YRI][hapmap]
rs10805667	0.90[CHB][hapmap];0.80[JPT][hapmap]
rs10941608	0.82[CHB][hapmap]
rs11748187	0.82[CHB][hapmap]
rs11748634	0.82[ASN][1000 genomes]
rs12109075	1.00[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];0.94[CHD][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12189053	0.83[ASN][1000 genomes]
rs13153462	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13154563	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs13176855	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13665	0.82[CHB][hapmap];0.83[CHD][hapmap];0.81[JPT][hapmap]
rs1532331	0.82[CHB][hapmap];0.81[JPT][hapmap];0.88[YRI][hapmap]
rs1670791	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs316405	0.82[CHB][hapmap]
rs34831299	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs35953019	0.92[ASW][hapmap];0.82[CHB][hapmap];0.94[CHD][hapmap];0.81[JPT][hapmap];0.93[LWK][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs3733839	0.82[CHB][hapmap]
rs4368737	0.86[AMR][1000 genomes]
rs4498259	0.82[CHB][hapmap];0.83[CHD][hapmap];0.81[JPT][hapmap];0.88[YRI][hapmap]
rs541143	0.91[CHB][hapmap];0.86[JPT][hapmap]
rs6414900	0.82[CHB][hapmap];0.83[CHD][hapmap];0.81[JPT][hapmap];0.85[YRI][hapmap]
rs6451674	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs6451675	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs670206	0.82[CHB][hapmap]
rs67913249	0.80[ASN][1000 genomes]
rs6862639	0.82[CHB][hapmap];0.82[CHD][hapmap];0.81[JPT][hapmap];0.88[YRI][hapmap]
rs6871636	0.92[ASW][hapmap];0.82[CHB][hapmap];0.89[CHD][hapmap];0.81[JPT][hapmap];0.88[LWK][hapmap];0.85[MKK][hapmap];1.00[YRI][hapmap]
rs6884303	0.82[CHB][hapmap];0.81[JPT][hapmap];0.88[YRI][hapmap]
rs6887997	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6894506	1.00[CHB][hapmap];0.84[CHD][hapmap];0.81[JPT][hapmap]
rs7700772	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7703840	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7704132	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7730004	0.82[CHB][hapmap];0.83[CHD][hapmap];0.81[JPT][hapmap]

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	nsv993554	chr5:42720939-43251863	Bivalent/Poised TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	298 gene(s)	inside rSNPs	diseases
2	nsv462126	chr5:42728831-43237188	Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
3	nsv597925	chr5:42728831-43237188	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
4	nsv1023741	chr5:42768215-43348145	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
5	nsv537737	chr5:42768215-43348145	Genic enhancers Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
6	nsv1024636	chr5:42959979-43295782	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
7	nsv537739	chr5:42959979-43295782	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7701510	ZNF131	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43196200-43245400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr5:43209600-43245200	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr5:43215600-43236800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr5:43219200-43232000	Weak transcription	Brain Anterior Caudate	brain
5	chr5:43225600-43228200	Enhancers	K562	blood
6	chr5:43226400-43233800	Weak transcription	GM12878-XiMat	blood
7	chr5:43226600-43230000	Weak transcription	Thymus	Thymus
8	chr5:43228000-43228200	Enhancers	Stomach Mucosa	stomach
9	chr5:43228000-43228200	Flanking Bivalent TSS/Enh	NHDF-Ad	bronchial

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