Variant report

Variant	rs732052
Chromosome Location	chr7:7952842-7952843
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BRCA1	chr7:7952755-7953845	Hela-S3	cervix:	n/a	n/a
2	GATA3	chr7:7952778-7952902	SH-SY5Y	brain:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:7951069..7953394-chr7:7953998..7956483,2	K562	blood:
2	chr7:7947056..7948865-chr7:7950686..7953467,2	MCF-7	breast:
3	chr7:7951059..7955946-chr7:8007279..8010658,10	MCF-7	breast:
4	chr7:7948433..7950272-chr7:7951772..7953401,2	MCF-7	breast:
5	chr7:7952035..7955913-chr7:7956512..7960009,4	MCF-7	breast:
6	chr7:7947370..7958537-chr7:8006160..8010935,22	MCF-7	breast:
7	chr7:7951350..7953467-chr7:8011566..8014289,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000214998	TF binding region
ENSG00000214998	Chromatin interaction
ENSG00000233108	Chromatin interaction
ENSG00000106415	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs17498524	0.95[CEU][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4725048	1.00[LWK][hapmap];0.88[AMR][1000 genomes]
rs4725049	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4725050	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61741163	0.88[AMR][1000 genomes]
rs6975902	1.00[ASW][hapmap];1.00[LWK][hapmap];0.82[MEX][hapmap];0.89[MKK][hapmap];0.91[AFR][1000 genomes]
rs73045599	0.83[AMR][1000 genomes]
rs73045601	0.83[AMR][1000 genomes]
rs73047505	0.81[AMR][1000 genomes]
rs73047514	0.85[AMR][1000 genomes]
rs73047519	0.85[AMR][1000 genomes]
rs73047544	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7785556	0.83[AMR][1000 genomes]
rs7789288	0.83[AMR][1000 genomes]
rs9690117	0.91[AFR][1000 genomes]
rs9690598	0.91[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026758	chr7:7187491-8075259	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
2	nsv1032670	chr7:7535515-8017077	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	esv2752177	chr7:7729247-8177689	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv1027770	chr7:7797431-7957507	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv538722	chr7:7797431-7957507	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv917172	chr7:7854632-8807385	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
7	nsv1030180	chr7:7860424-8059221	Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
8	nsv464304	chr7:7913819-7970560	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv606046	chr7:7913819-7970560	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	esv3346837	chr7:7915187-8068557	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
11	nsv1020161	chr7:7929384-8047553	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
12	nsv525502	chr7:7938596-7996590	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
13	nsv606048	chr7:7938596-7996590	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
14	nsv606049	chr7:7949059-7967424	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs732052	TMEM123	trans	cerebellum	SCAN

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7942600-7963600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:7943000-7958800	Weak transcription	Aorta	Aorta
3	chr7:7944400-7959600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr7:7949200-7960200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr7:7949600-7953000	Weak transcription	Psoas Muscle	Psoas
6	chr7:7950000-7953000	Weak transcription	Colon Smooth Muscle	Colon
7	chr7:7950000-7953600	Weak transcription	Ovary	ovary
8	chr7:7950200-7953000	Weak transcription	Fetal Stomach	stomach
9	chr7:7950400-7954400	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr7:7950600-7954000	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr7:7950800-7953600	Enhancers	Placenta	Placenta
12	chr7:7951000-7953400	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr7:7951400-7953000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr7:7951400-7957800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr7:7951800-7953200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr7:7951800-7953200	Enhancers	Hela-S3	cervix
17	chr7:7952000-7953200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr7:7952000-7953200	Weak transcription	HepG2	liver
19	chr7:7952200-7953200	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr7:7952200-7953200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr7:7952200-7953200	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr7:7952400-7953200	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr7:7952400-7953400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr7:7952400-7953800	Enhancers	HSMMtube	muscle
25	chr7:7952600-7953000	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr7:7952600-7953000	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr7:7952600-7953000	Enhancers	HSMM	muscle
28	chr7:7952600-7953400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr7:7952600-7953400	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr7:7952800-7953200	Enhancers	Liver	Liver
31	chr7:7952800-7953600	Enhancers	Stomach Smooth Muscle	stomach

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