Variant report

Variant	rs712696
Chromosome Location	chr7:126987095-126987096
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:126986546-126987199	HepG2	liver:	n/a	n/a
2	POLR2A	chr7:126987029-126987131	Gliobla	brain:	n/a	n/a
3	POLR2A	chr7:126987017-126987355	K562	blood:	n/a	n/a
4	MYC	chr7:126987005-126987159	MCF-7	breast:	n/a	n/a
5	POLR2A	chr7:126987085-126987127	MCF-7	breast:	n/a	n/a
6	MYC	chr7:126987095-126987096	MCF-7	breast:	n/a	n/a
7	JUND	chr7:126986995-126987113	K562	blood:	n/a	n/a
8	POLR2A	chr7:126986860-126987402	MCF-7	breast:	n/a	n/a
9	POLR2A	chr7:126985052-127000124	K562	blood:	n/a	n/a
10	POLR2A	chr7:126985342-126987332	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr7:126987045-126987112	MCF-7	breast:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:126985529..126987852-chr7:126995561..126998469,2	K562	blood:
2	chr7:126986399..126988206-chr7:127024325..127027237,2	K562	blood:
3	chr7:126985391..126987885-chr7:127220985..127222536,2	MCF-7	breast:
4	chr7:126979918..126982217-chr7:126984570..126987487,3	K562	blood:
5	chr7:126985955..126988348-chr7:127020622..127023787,3	K562	blood:
6	chr7:126985498..126988348-chr7:127020185..127023787,5	K562	blood:
7	chr7:126975549..126977117-chr7:126985194..126987625,2	MCF-7	breast:
8	chr7:126986706..126988243-chr7:127024325..127027268,2	K562	blood:
9	chr7:126985549..126992875-chr7:127029251..127034121,12	K562	blood:
10	chr7:126986612..126990415-chr7:127030676..127033732,5	MCF-7	breast:
11	chr7:126985770..126989525-chr7:127030949..127034199,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000224138	TF binding region
ENSG00000048405	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10226106	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10235028	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10249162	0.96[CEU][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10249166	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10253737	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10254399	0.96[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MKK][hapmap];0.95[TSI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10255062	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10263603	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10279882	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1057454	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MKK][hapmap];0.93[TSI][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10954148	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11563347	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs11563470	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1361938	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.94[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1361940	1.00[CEU][hapmap];0.92[CHB][hapmap];0.91[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1419392	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1419394	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.92[JPT][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1419395	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1419405	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1419418	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1419419	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1419420	0.96[CEU][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1419421	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1419423	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17866417	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1946107	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1946108	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2027952	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2106181	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2269728	0.83[CEU][hapmap];0.92[CHB][hapmap];0.82[JPT][hapmap];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2269729	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2285338	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MKK][hapmap];0.95[TSI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2402859	0.92[CEU][hapmap];0.92[CHB][hapmap];0.92[JPT][hapmap];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28729203	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4728067	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4728068	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4731352	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4731353	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4731354	0.96[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4731355	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4731356	0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.84[JPT][hapmap];0.86[MKK][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4731357	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4731358	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4731359	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6467120	0.85[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];0.88[MEX][hapmap];0.98[TSI][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6467122	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6467123	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.86[MKK][hapmap];0.95[TSI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6467124	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67076804	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6957320	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6962137	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6973862	0.96[CEU][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6978090	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6979232	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7777556	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7786199	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7811565	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap];1.00[ASN][1000 genomes]
rs951992	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9656363	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9791822	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9791825	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs986584	0.96[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs987384	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526043	chr7:126985158-126998210	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs712696	ZNF800	cis	cerebellum	SCAN
rs712696	ZNF800	cis	parietal	SCAN
rs712696	ASB15	cis	cerebellum	SCAN
rs712696	TMEM229A	cis	parietal	SCAN

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:126984400-126987600	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr7:126984400-127000800	Weak transcription	HSMMtube	muscle
3	chr7:126984600-126987600	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr7:126984800-126987600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr7:126984800-126987600	Weak transcription	K562	blood
6	chr7:126985600-126987600	Weak transcription	Thymus	Thymus
7	chr7:126985800-126987600	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr7:126986000-126987600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr7:126986200-126987600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr7:126986400-126988000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:126986600-126987600	Enhancers	Rectal Mucosa Donor 29	rectum
12	chr7:126986600-126987600	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr7:126986800-126987600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr7:126986800-126987600	Enhancers	Adipose Nuclei	Adipose
15	chr7:126986800-126987600	Enhancers	Aorta	Aorta
16	chr7:126986800-126987600	Enhancers	Colonic Mucosa	Colon
17	chr7:126987000-126987200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
18	chr7:126987000-126987600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr7:126987000-126987600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr7:126987000-126987600	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr7:126987000-126987600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr7:126987000-126987600	Enhancers	Esophagus	oesophagus
23	chr7:126987000-126987600	Enhancers	Lung	lung
24	chr7:126987000-126987600	Enhancers	Pancreas	Pancrea
25	chr7:126987000-126987600	Strong transcription	HSMM	muscle
26	chr7:126987000-126988200	Enhancers	Gastric	stomach
27	chr7:126987000-126988400	Enhancers	Primary T cells fromperipheralblood	blood
28	chr7:126987000-126988400	Enhancers	Placenta	Placenta
29	chr7:126987000-126988600	Enhancers	Primary T killer memory cells from peripheral blood	blood

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