Variant report

Variant	rs2286267
Chromosome Location	chr7:86781423-86781424
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:488)
CpG islands
(count:0)
Chromatin interactive
region (count:26)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:488 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F6	chr7:86781237-86782239	K562	blood:	n/a	n/a
2	MYC	chr7:86781262-86782214	K562	blood:	n/a	n/a
3	POLR2A	chr7:86781251-86782303	GM12878	blood:	n/a	n/a
4	EGR1	chr7:86781219-86782527	HCT-116	colon:	n/a	chr7:86782146-86782160 chr7:86781713-86781727
5	TAF1	chr7:86781276-86782316	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr7:86781223-86782573	GM18951	blood:	n/a	n/a
7	POLR2A	chr7:86780891-86783057	U87	brain:	n/a	n/a
8	MYBL2	chr7:86781335-86782323	HepG2	liver:	n/a	n/a
9	BACH1	chr7:86780932-86782425	K562	blood:	n/a	n/a
10	JUND	chr7:86781167-86782791	H1-hESC	embryonic stem cell:	n/a	chr7:86782537-86782549
11	TEAD4	chr7:86781359-86782038	A549	lung:	n/a	n/a
12	TEAD4	chr7:86781223-86782427	ECC-1	luminal epithelium:	n/a	n/a
13	POLR2A	chr7:86780737-86783963	IMR90	lung:	n/a	n/a
14	MXI1	chr7:86780660-86782199	K562	blood:	n/a	n/a
15	GABPA	chr7:86780948-86782470	MCF-7	breast:	n/a	n/a
16	PAX5	chr7:86781307-86781522	GM12892	blood:	n/a	n/a
17	ELK4	chr7:86781334-86782104	Hela-S3	cervix:	n/a	chr7:86781741-86781750 chr7:86781739-86781750
18	REST	chr7:86781317-86782306	SK-N-SH	brain:	n/a	n/a
19	REST	chr7:86781318-86782254	K562	blood:	n/a	n/a
20	MAX	chr7:86780998-86782262	MCF-7	breast:	n/a	n/a
21	MYC	chr7:86780576-86782966	K562	blood:	n/a	n/a
22	POLR2A	chr7:86781201-86782656	PANC-1	pancreas:	n/a	n/a
23	CHD1	chr7:86781165-86782647	GM12878	blood:	n/a	n/a
24	STAT5A	chr7:86780906-86783177	K562	blood:	n/a	chr7:86782789-86782797
25	GABPA	chr7:86780987-86782328	SK-N-SH	brain:	n/a	n/a
26	MYC	chr7:86781330-86782222	MCF-7	breast:	n/a	n/a
27	IKZF1	chr7:86781261-86782291	GM12878	blood:	n/a	n/a
28	CEBPB	chr7:86781270-86781734	ECC-1	luminal epithelium:	n/a	n/a
29	POLR2A	chr7:86781257-86782305	HCT-116	colon:	n/a	n/a
30	MAX	chr7:86781165-86782543	A549	lung:	n/a	n/a
31	PAX5	chr7:86781115-86782291	GM12878	blood:	n/a	n/a
32	POLR2A	chr7:86780800-86783072	GM12891	blood:	n/a	n/a
33	ZMIZ1	chr7:86780939-86782447	K562	blood:	n/a	n/a
34	JUND	chr7:86780514-86783169	K562	blood:	n/a	chr7:86782537-86782549 chr7:86782864-86782875 chr7:86782868-86782876 chr7:86782866-86782878
35	TAF1	chr7:86781154-86782616	GM12878	blood:	n/a	n/a
36	UBTF	chr7:86781182-86783455	K562	blood:	n/a	n/a
37	FOSL2	chr7:86781268-86781913	A549	lung:	n/a	n/a
38	GTF2F1	chr7:86780918-86782158	K562	blood:	n/a	n/a
39	BRCA1	chr7:86781312-86781866	HepG2	liver:	n/a	n/a
40	STAT5A	chr7:86781284-86783064	GM12878	blood:	n/a	chr7:86782789-86782797
41	RCOR1	chr7:86780525-86782811	K562	blood:	n/a	n/a
42	SIN3AK20	chr7:86781310-86782190	H1-hESC	embryonic stem cell:	n/a	n/a
43	RFX5	chr7:86781240-86782928	Hela-S3	cervix:	n/a	n/a
44	SIN3A	chr7:86781275-86782923	GM12878	blood:	n/a	n/a
45	MAX	chr7:86781174-86782543	K562	blood:	n/a	n/a
46	RAD21	chr7:86781388-86781649	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr7:86781226-86782649	ECC-1	luminal epithelium:	n/a	n/a
48	USF2	chr7:86781365-86781912	GM12878	blood:	n/a	n/a
49	POLR2A	chr7:86781192-86783195	HUVEC	blood vessel:	n/a	n/a
50	POLR2A	chr7:86781229-86782446	HUVEC	blood vessel:	n/a	n/a

No data

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:86780474..86782448-chr7:86847588..86849718,2	K562	blood:
2	chr5:109024533..109025043-chr7:86780933..86781528,2	Hela-S3	cervix:
3	chr7:86780600..86784245-chr7:86826808..86830083,3	K562	blood:
4	chr7:86687491..86690694-chr7:86779646..86784102,7	MCF-7	breast:
5	chr7:86566998..86572829-chr7:86779731..86785521,7	MCF-7	breast:
6	chr16:30582827..30583690-chr7:86781129..86781919,2	Hela-S3	cervix:
7	chr1:45987412..45988185-chr7:86781410..86782260,3	Hela-S3	cervix:
8	chr18:45456531..45457380-chr7:86781200..86781715,2	Hela-S3	cervix:
9	chr7:86780653..86784932-chr7:86790317..86796236,8	MCF-7	breast:
10	chr7:86780355..86788679-chr7:86845137..86851399,15	MCF-7	breast:
11	chr7:86686484..86692984-chr7:86778376..86787938,22	K562	blood:
12	chr10:33246675..33247495-chr7:86781258..86782140,2	Hela-S3	cervix:
13	chr7:86686668..86692984-chr7:86780038..86786500,15	K562	blood:
14	chr12:56615744..56616435-chr7:86781329..86782188,2	NB4	blood:
15	chr1:110091033..110091975-chr7:86781368..86782060,2	Hela-S3	cervix:
16	chr1:149223986..149224516-chr7:86781372..86782199,2	HCT-116	colon:
17	chr3:49977095..49978042-chr7:86781332..86782269,3	Hela-S3	cervix:
18	chr11:62608918..62609529-chr7:86781042..86781572,2	HCT-116	colon:
19	chr7:86687563..86690226-chr7:86779393..86784314,7	MCF-7	breast:
20	chr1:146713799..146714746-chr7:86781364..86782270,2	Hela-S3	cervix:
21	chr7:86778653..86785496-chr7:86845746..86851349,11	MCF-7	breast:
22	chr19:10513795..10514320-chr7:86781102..86781693,2	NB4	blood:
23	chr5:140027035..140027784-chr7:86781327..86781868,2	Hela-S3	cervix:
24	chr7:86540771..86562582-chr7:86776173..86789890,50	K562	blood:
25	chr19:48824441..48825214-chr7:86780676..86781433,2	Hela-S3	cervix:
26	chr16:2317849..2318519-chr7:86781036..86781889,2	Hela-S3	cervix:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C7orf23-1	chr7:86781066-86781598	ENSG00000224046
2	lnc-C7orf23-1	chr7:86781066-86781633	NONHSAT121810

No data

Variant related genes	Relation type
DMTF1	TF binding region
ENSG00000105479	Chromatin interaction
ENSG00000113141	Chromatin interaction
ENSG00000139579	Chromatin interaction
ENSG00000131781	Chromatin interaction
ENSG00000221566	Chromatin interaction
ENSG00000264052	Chromatin interaction
ENSG00000150093	Chromatin interaction
ENSG00000135164	Chromatin interaction
ENSG00000175387	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000105401	Chromatin interaction
ENSG00000117450	Chromatin interaction
ENSG00000131778	Chromatin interaction
ENSG00000142227	Chromatin interaction
ENSG00000205937	Chromatin interaction
ENSG00000239791	Chromatin interaction
ENSG00000229809	Chromatin interaction
ENSG00000135185	Chromatin interaction
ENSG00000200397	Chromatin interaction
ENSG00000164659	Chromatin interaction
ENSG00000131495	Chromatin interaction
ENSG00000206737	Chromatin interaction
ENSG00000065135	Chromatin interaction
ENSG00000260778	Chromatin interaction
ENSG00000004534	Chromatin interaction
ENSG00000207715	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1011952	0.98[EUR][1000 genomes]
rs1011953	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10245036	0.94[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];0.93[CHD][hapmap];0.86[GIH][hapmap];0.95[JPT][hapmap];0.92[LWK][hapmap];0.91[MEX][hapmap];0.93[MKK][hapmap];0.86[TSI][hapmap];0.83[YRI][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10263920	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10273826	0.94[CEU][hapmap];0.85[EUR][1000 genomes]
rs1058972	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.89[TSI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1558050	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1574795	0.94[CEU][hapmap];0.85[EUR][1000 genomes]
rs2106955	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3810883	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4236504	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.96[TSI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4728685	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4728688	0.83[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs4728690	0.95[JPT][hapmap]
rs6465099	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6465100	0.85[EUR][1000 genomes]
rs6942878	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6952842	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6957785	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.96[TSI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6966613	0.87[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs6975175	0.85[EUR][1000 genomes]
rs6978590	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs757159	1.00[CEU][hapmap];0.84[JPT][hapmap];1.00[EUR][1000 genomes]
rs769156	1.00[CEU][hapmap];0.89[TSI][hapmap];0.96[EUR][1000 genomes]
rs7776634	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7792031	0.87[CEU][hapmap];0.81[JPT][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7793356	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7800541	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.89[TSI][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7812191	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025277	chr7:86299224-87206007	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv538999	chr7:86299224-87206007	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv532147	chr7:86299225-87121975	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	nsv1015870	chr7:86490491-86802320	Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
5	nsv539000	chr7:86490491-86802320	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
6	nsv527889	chr7:86496042-86832603	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
7	nsv1016761	chr7:86758544-86914152	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
8	nsv888676	chr7:86781423-86858824	Active TSS Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2286267	C7orf23	cis	parietal	SCAN

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:86780400-86783600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr7:86780400-86783600	Active TSS	Fetal Lung	lung
3	chr7:86780400-86783600	Active TSS	K562	blood
4	chr7:86780400-86784200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr7:86780600-86781600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr7:86780600-86783600	Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr7:86780600-86783800	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr7:86780600-86783800	Active TSS	iPS-18 Cell Line	embryonic stem cell
9	chr7:86780600-86783800	Active TSS	Fetal Muscle Trunk	muscle
10	chr7:86780600-86784000	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr7:86780600-86784000	Active TSS	H9 Cell Line	embryonic stem cell
12	chr7:86780600-86785200	Active TSS	NHLF	lung
13	chr7:86780600-86786000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr7:86780800-86781600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr7:86780800-86781600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr7:86780800-86781600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
17	chr7:86780800-86781600	Flanking Active TSS	HUVEC	blood vessel
18	chr7:86780800-86781800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
19	chr7:86780800-86782000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr7:86780800-86782000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr7:86780800-86782000	Active TSS	Brain Germinal Matrix	brain
22	chr7:86780800-86782800	Active TSS	Brain Inferior Temporal Lobe	brain
23	chr7:86780800-86783000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr7:86780800-86783400	Active TSS	Primary T killer memory cells from peripheral blood	blood
25	chr7:86780800-86783600	Active TSS	Stomach Smooth Muscle	stomach
26	chr7:86780800-86783600	Active TSS	A549	lung
27	chr7:86780800-86783800	Active TSS	HUES6 Cell Line	embryonic stem cell
28	chr7:86780800-86783800	Active TSS	iPS-20b Cell Line	embryonic stem cell
29	chr7:86780800-86783800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr7:86780800-86783800	Active TSS	Fetal Kidney	kidney
31	chr7:86780800-86784000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr7:86780800-86784000	Active TSS	Fetal Stomach	stomach
33	chr7:86780800-86784200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr7:86780800-86784400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr7:86780800-86784400	Active TSS	iPS-15b Cell Line	embryonic stem cell
36	chr7:86780800-86784600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
37	chr7:86780800-86784600	Active TSS	H1 Cell Line	embryonic stem cell
38	chr7:86780800-86785400	Active TSS	GM12878-XiMat	blood
39	chr7:86781000-86781600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
40	chr7:86781000-86781600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
41	chr7:86781000-86781600	Flanking Active TSS	Primary hematopoietic stem cells	blood
42	chr7:86781000-86781600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
43	chr7:86781000-86781600	Flanking Active TSS	Liver	Liver
44	chr7:86781000-86782800	Active TSS	Esophagus	oesophagus
45	chr7:86781000-86782800	Active TSS	Rectal Mucosa Donor 31	rectum
46	chr7:86781000-86783000	Active TSS	Colon Smooth Muscle	Colon
47	chr7:86781000-86783000	Active TSS	Pancreatic Islets	Pancreatic Islet
48	chr7:86781000-86783000	Active TSS	Placenta Amnion	Placenta Amnion
49	chr7:86781000-86783000	Active TSS	Sigmoid Colon	Sigmoid Colon
50	chr7:86781000-86783200	Active TSS	Cortex derived primary cultured neurospheres	brain

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