Variant report

Variant	rs7651753
Chromosome Location	chr3:46929449-46929450
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr3:46929300-46929450	HPAF	blood vessel:	n/a	n/a
2	CTCF	chr3:46929352-46929459	MCF-7	breast:	n/a	n/a
3	CTCF	chr3:46929320-46929470	Caco-2	colon:	n/a	n/a
4	SMC3	chr3:46929285-46929518	Hela-S3	cervix:	n/a	n/a
5	CTCF	chr3:46929323-46929475	MCF-7	breast:	n/a	n/a
6	CTCF	chr3:46929255-46929477	A549	lung:	n/a	n/a
7	CTCF	chr3:46929323-46929540	K562	blood:	n/a	n/a
8	RAD21	chr3:46929281-46929473	SK-N-SH_RA	brain:	n/a	n/a
9	CTCF	chr3:46929320-46929470	K562	blood:	n/a	n/a
10	CTCF	chr3:46929306-46929465	Hela-S3	cervix:	n/a	n/a
11	CTCF	chr3:46929348-46929487	HepG2	liver:	n/a	n/a
12	RAD21	chr3:46929311-46929460	SK-N-SH_RA	brain:	n/a	n/a
13	RAD21	chr3:46929273-46929560	Hela-S3	cervix:	n/a	n/a
14	CTCF	chr3:46929366-46929460	HUVEC	blood vessel:	n/a	n/a
15	CTCF	chr3:46929360-46929510	HepG2	liver:	n/a	n/a
16	CTCF	chr3:46929282-46929568	MCF-7	breast:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:46923291..46931131-chr3:46931662..46935716,9	K562	blood:
2	chr3:46917885..46923537-chr3:46925586..46931315,6	MCF-7	breast:
3	chr3:46927679..46930570-chr3:46933189..46935656,3	MCF-7	breast:
4	chr3:46929163..46931629-chr3:46932279..46935009,2	K562	blood:

No data

Variant related genes	Relation type
PTH1R	TF binding region
ENSG00000160801	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12715420	1.00[CEU][hapmap]
rs13060505	1.00[CEU][hapmap];1.00[GIH][hapmap]
rs13083011	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13093914	0.88[EUR][1000 genomes]
rs34188610	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6763025	1.00[CHD][hapmap]
rs7610337	0.80[EUR][1000 genomes]
rs7624740	1.00[CEU][hapmap]
rs9841902	1.00[CEU][hapmap];1.00[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007449	chr3:46652343-46986578	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv536554	chr3:46652343-46986578	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	esv2757869	chr3:46680452-46972489	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	esv2759147	chr3:46680452-46972489	Genic enhancers Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv536558	chr3:46706571-47024756	Enhancers Bivalent Enhancer Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
6	nsv915922	chr3:46768104-47009805	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv590205	chr3:46852679-46929546	Weak transcription Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv1003979	chr3:46853374-46943854	Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv590206	chr3:46873957-46935527	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv876752	chr3:46879831-46967040	Bivalent/Poised TSS Genic enhancers Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	nsv876753	chr3:46884552-46957298	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
12	nsv876754	chr3:46884552-46967040	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
13	nsv876755	chr3:46895109-47061183	Genic enhancers Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46925200-46933000	Weak transcription	Pancreas	Pancrea
2	chr3:46925400-46930200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr3:46925400-46930400	Weak transcription	Lung	lung
4	chr3:46925800-46930400	Weak transcription	Ovary	ovary
5	chr3:46925800-46933000	Weak transcription	Brain Angular Gyrus	brain
6	chr3:46926000-46933400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr3:46926600-46930000	Weak transcription	Right Atrium	heart
8	chr3:46926600-46930400	Weak transcription	Right Ventricle	heart
9	chr3:46926600-46933000	Weak transcription	Left Ventricle	heart
10	chr3:46926600-46933200	Weak transcription	Brain Anterior Caudate	brain
11	chr3:46926600-46933400	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr3:46926800-46931000	Weak transcription	Fetal Heart	heart
13	chr3:46926800-46931000	Weak transcription	Fetal Intestine Large	intestine
14	chr3:46927000-46931000	Weak transcription	Fetal Kidney	kidney
15	chr3:46927200-46930200	Weak transcription	Adipose Nuclei	Adipose
16	chr3:46927400-46929800	Weak transcription	Placenta	Placenta
17	chr3:46927600-46930600	Weak transcription	Stomach Smooth Muscle	stomach
18	chr3:46928400-46930200	Weak transcription	Fetal Stomach	stomach
19	chr3:46928400-46930400	Weak transcription	Spleen	Spleen
20	chr3:46928800-46930000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
21	chr3:46929000-46930400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
22	chr3:46929000-46931000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
23	chr3:46929000-46931800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
24	chr3:46929200-46929600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
25	chr3:46929200-46929800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr3:46929200-46930200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr3:46929200-46930400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
28	chr3:46929200-46930600	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
29	chr3:46929200-46931400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr3:46929400-46930600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
31	chr3:46929400-46933000	Enhancers	Fetal Lung	lung

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