Variant report

Variant	rs3816758
Chromosome Location	chr3:138661990-138661991
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:35)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:35 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr3:138661821-138662997	K562	blood:	n/a	n/a
2	UBTF	chr3:138661738-138664476	K562	blood:	n/a	n/a
3	CTCF	chr3:138661913-138662271	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr3:138661812-138662306	K562	blood:	n/a	n/a
5	CTCF	chr3:138661908-138662265	K562	blood:	n/a	n/a
6	MAX	chr3:138661974-138662381	K562	blood:	n/a	n/a
7	CTCF	chr3:138661920-138662070	GM06990	blood:	n/a	n/a
8	ELF1	chr3:138661712-138661997	K562	blood:	n/a	chr3:138661883-138661896
9	POLR2A	chr3:138661830-138663655	H1-neurons	neurons:	n/a	n/a
10	ZNF143	chr3:138661875-138662276	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr3:138661962-138662244	K562	blood:	n/a	n/a
12	MAX	chr3:138661842-138662414	K562	blood:	n/a	n/a
13	SUZ12	chr3:138661550-138662496	H1-hESC	embryonic stem cell:	n/a	n/a
14	CHD2	chr3:138661740-138662149	K562	blood:	n/a	n/a
15	RAD21	chr3:138661975-138662214	K562	blood:	n/a	chr3:138662183-138662197
16	BHLHE40	chr3:138661979-138662213	K562	blood:	n/a	n/a
17	RCOR1	chr3:138661861-138662408	K562	blood:	n/a	n/a
18	MYC	chr3:138661787-138662360	K562	blood:	n/a	n/a
19	CTCF	chr3:138661900-138662050	BE2_C	brain:	n/a	n/a
20	POLR2A	chr3:138661757-138662508	K562	blood:	n/a	n/a
21	CTCF	chr3:138661980-138662130	AG04449	skin:	n/a	n/a
22	JUND	chr3:138661956-138662290	K562	blood:	n/a	chr3:138662026-138662035 chr3:138662228-138662237 chr3:138662227-138662236
23	CTCF	chr3:138661940-138662090	HCPEpiC	choroid plexus:	n/a	n/a
24	CTCF	chr3:138661980-138662130	SK-N-SH_RA	brain:	n/a	n/a
25	CTCF	chr3:138661840-138661990	K562	blood:	n/a	n/a
26	CTCF	chr3:138661980-138662130	HRE	kidney:	n/a	n/a
27	TBP	chr3:138661784-138662450	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr3:138661642-138662461	K562	blood:	n/a	n/a
29	CTCF	chr3:138661828-138662267	K562	blood:	n/a	n/a
30	POLR2A	chr3:138661932-138664635	H1-neurons	neurons:	n/a	n/a
31	CTCF	chr3:138661980-138662130	HPAF	blood vessel:	n/a	n/a
32	MYC	chr3:138661966-138662453	K562	blood:	n/a	n/a
33	CTCF	chr3:138661840-138662130	AG04450	lung:	n/a	n/a
34	ZBTB7A	chr3:138661941-138662427	K562	blood:	n/a	chr3:138662347-138662358
35	HMGN3	chr3:138661936-138662323	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:138552259..138555153-chr3:138660631..138662853,2	K562	blood:
2	chr3:138661376..138665068-chr3:139062620..139064700,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000244578	TF binding region
C3orf72	TF binding region
ENSG00000051382	Chromatin interaction
ENSG00000175110	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10804660	0.84[ASN][1000 genomes]
rs10804662	0.84[ASN][1000 genomes]
rs12106771	0.84[ASN][1000 genomes]
rs12107422	0.84[ASN][1000 genomes]
rs12107433	0.84[ASN][1000 genomes]
rs12108191	0.84[ASN][1000 genomes]
rs2062158	0.82[ASN][1000 genomes]
rs2291251	0.83[EUR][1000 genomes]
rs28684522	0.80[ASN][1000 genomes]
rs28685198	0.82[ASN][1000 genomes]
rs34544655	0.84[ASN][1000 genomes]
rs34829168	0.84[ASN][1000 genomes]
rs35153706	0.83[ASN][1000 genomes]
rs35425443	0.84[ASN][1000 genomes]
rs35936011	0.83[ASN][1000 genomes]
rs4894332	0.84[ASN][1000 genomes]
rs4894333	0.84[ASN][1000 genomes]
rs56799713	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61176178	0.84[ASN][1000 genomes]
rs61407395	0.84[ASN][1000 genomes]
rs72630197	0.83[EUR][1000 genomes]
rs72630198	0.83[EUR][1000 genomes]
rs72630199	0.83[EUR][1000 genomes]
rs7641433	0.83[EUR][1000 genomes]
rs7641916	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7641989	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs900442	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]

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	nsv530057	chr3:138014877-138734390	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv1013074	chr3:138213166-138737688	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1002612	chr3:138213274-138831792	Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv536726	chr3:138213274-138831792	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv1009726	chr3:138219923-138737688	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv869205	chr3:138248190-138775288	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv868955	chr3:138248190-138848947	Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv591854	chr3:138348081-138764229	Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	nsv1010514	chr3:138365640-138737688	Flanking Bivalent TSS/Enh Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
10	nsv917964	chr3:138440701-138699084	Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
11	nsv877540	chr3:138645013-138670695	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv877541	chr3:138645013-138673922	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv877542	chr3:138645013-138750904	Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:138655800-138662800	Weak transcription	Hela-S3	cervix
2	chr3:138660400-138662400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr3:138661400-138662000	Flanking Active TSS	K562	blood
4	chr3:138661400-138662200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr3:138661400-138663200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
6	chr3:138661600-138662000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
7	chr3:138661600-138662000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr3:138661600-138662400	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr3:138661600-138663000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
10	chr3:138661800-138662000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
11	chr3:138661800-138662000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr3:138661800-138662000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr3:138661800-138662200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
14	chr3:138661800-138662200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
15	chr3:138661800-138662200	Weak transcription	Pancreas	Pancrea
16	chr3:138661800-138662200	ZNF genes & repeats	Right Atrium	heart
17	chr3:138661800-138663800	Active TSS	Ovary	ovary

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