Variant report

Variant	rs6957785
Chromosome Location	chr7:86779262-86779263
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:86743993..86746929-chr7:86777540..86779629,2	K562	blood:
2	chr7:86689129..86690727-chr7:86777649..86779867,2	K562	blood:
3	chr7:86535376..86539123-chr7:86777976..86780769,3	K562	blood:
4	chr7:86686484..86692984-chr7:86778376..86787938,22	K562	blood:
5	chr7:86549467..86551157-chr7:86778742..86780905,2	K562	blood:
6	chr7:86565014..86570246-chr7:86776196..86779277,4	K562	blood:
7	chr7:86747236..86750092-chr7:86777747..86780252,2	K562	blood:
8	chr7:86777886..86779595-chr7:86780686..86782702,2	MCF-7	breast:
9	chr7:86777151..86779523-chr7:86848801..86851010,2	K562	blood:
10	chr7:86535376..86537638-chr7:86777976..86779594,2	K562	blood:
11	chr7:86778653..86785496-chr7:86845746..86851349,11	MCF-7	breast:
12	chr7:86554879..86556434-chr7:86778032..86780011,2	K562	blood:
13	chr7:86540771..86562582-chr7:86776173..86789890,50	K562	blood:

No data

Variant related genes	Relation type
ENSG00000135185	Chromatin interaction
ENSG00000164659	Chromatin interaction
ENSG00000200397	Chromatin interaction
ENSG00000135164	Chromatin interaction
ENSG00000224046	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1011952	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1011953	0.99[EUR][1000 genomes]
rs10245036	1.00[CEU][hapmap];0.86[CHB][hapmap];0.93[CHD][hapmap];0.86[GIH][hapmap];0.95[JPT][hapmap];0.86[MEX][hapmap];0.90[TSI][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10263920	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10273826	0.94[CEU][hapmap];0.82[TSI][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];0.95[MEX][hapmap];0.93[TSI][hapmap];0.88[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];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1574795	0.94[CEU][hapmap];0.85[EUR][1000 genomes]
rs2106955	0.99[EUR][1000 genomes]
rs2286267	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]
rs3810883	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4236504	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4728685	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4728688	0.80[ASW][hapmap];0.83[CHB][hapmap];0.95[JPT][hapmap];0.94[LWK][hapmap];0.92[YRI][hapmap];0.83[ASN][1000 genomes]
rs4728690	0.95[JPT][hapmap];0.82[YRI][hapmap]
rs6465099	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6465100	0.85[EUR][1000 genomes]
rs6942878	1.00[EUR][1000 genomes]
rs6952842	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6964225	0.80[ASW][hapmap];0.97[LWK][hapmap];0.90[MKK][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes]
rs6966613	0.87[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs6975175	0.85[EUR][1000 genomes]
rs6978590	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs757159	1.00[CEU][hapmap];0.84[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs769156	1.00[CEU][hapmap];0.93[TSI][hapmap];0.96[EUR][1000 genomes]
rs7776634	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7792031	0.81[CEU][hapmap];0.81[JPT][hapmap];0.93[EUR][1000 genomes]
rs7793356	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.92[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];0.95[MEX][hapmap];0.93[TSI][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7812191	0.83[EUR][1000 genomes]

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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6957785	C7orf23	cis	parietal	SCAN

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:86771000-86780800	Weak transcription	Fetal Intestine Large	intestine
2	chr7:86771400-86780400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr7:86774600-86780400	Weak transcription	GM12878-XiMat	blood
4	chr7:86774600-86780600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr7:86774600-86780800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr7:86776400-86780600	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr7:86776800-86780600	Weak transcription	Fetal Muscle Trunk	muscle
8	chr7:86776800-86780800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr7:86776800-86780800	Weak transcription	Fetal Muscle Leg	muscle
10	chr7:86777000-86780800	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr7:86777200-86780600	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr7:86777200-86780800	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr7:86777800-86780800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr7:86778200-86780200	Weak transcription	Hela-S3	cervix
15	chr7:86778200-86780600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr7:86778200-86780600	Weak transcription	HUVEC	blood vessel
17	chr7:86778200-86780800	Weak transcription	Brain Cingulate Gyrus	brain
18	chr7:86778400-86781000	Weak transcription	Ovary	ovary

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