Variant report

Variant	rs527981
Chromosome Location	chr3:140185944-140185945
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:140185736-140186399	U87	brain:	n/a	n/a
2	BHLHE40	chr3:140185894-140186269	K562	blood:	n/a	n/a
3	POLR2A	chr3:140185757-140186399	U87	brain:	n/a	n/a
4	CTCF	chr3:140185880-140186030	HMEC	breast:	n/a	n/a
5	MAX	chr3:140185884-140186153	K562	blood:	n/a	n/a
6	MAX	chr3:140185843-140186214	A549	lung:	n/a	n/a
7	JUND	chr3:140185869-140186258	K562	blood:	n/a	chr3:140186058-140186067
8	JUN	chr3:140185523-140186381	K562	blood:	n/a	chr3:140186058-140186067 chr3:140185602-140185609
9	SETDB1	chr3:140185616-140186255	U2OS	brain:	n/a	n/a
10	CTCF	chr3:140185920-140186070	HMEC	breast:	n/a	n/a
11	TCF7L2	chr3:140185904-140186230	MCF-7	breast:	n/a	chr3:140186150-140186159 chr3:140185991-140186000
12	FOSL2	chr3:140185822-140186254	A549	lung:	n/a	chr3:140186058-140186067
13	KAP1	chr3:140185818-140186694	U2OS	brain:	n/a	n/a
14	RCOR1	chr3:140185906-140186271	K562	blood:	n/a	n/a
15	JUND	chr3:140185884-140186084	H1-hESC	embryonic stem cell:	n/a	chr3:140186058-140186067
16	TCF7L2	chr3:140185865-140186323	HCT-116	colon:	n/a	chr3:140186150-140186159 chr3:140185991-140186000
17	MAX	chr3:140185761-140186309	A549	lung:	n/a	n/a
18	CTCF	chr3:140185931-140185944	A549	lung:	n/a	n/a
19	JUN	chr3:140185927-140186259	K562	blood:	n/a	chr3:140186058-140186067

No.	Distal block	Cell Line	Cell type
1	chr3:140185147..140188078-chr3:140189944..140194087,5	MCF-7	breast:
2	chr3:140173675..140176130-chr3:140184523..140186142,2	MCF-7	breast:
3	chr3:140184688..140187114-chr3:140190424..140192201,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000251058	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs499839	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs528952	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs529815	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs533657	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs551111	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757891	chr3:139925764-140524730	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	esv2759181	chr3:139925764-140524730	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv527831	chr3:139932966-140533823	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	esv34489	chr3:140009020-140469302	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	esv2757012	chr3:140009220-140460228	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv1001430	chr3:140016999-140186498	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv998953	chr3:140017168-140186984	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv536731	chr3:140017168-140186984	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv1004500	chr3:140021594-140189148	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv591863	chr3:140126067-140274442	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:140158200-140189000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:140181800-140188600	Strong transcription	Ovary	ovary
3	chr3:140185200-140186000	Enhancers	Right Atrium	heart
4	chr3:140185200-140186600	Strong transcription	Adipose Nuclei	Adipose
5	chr3:140185400-140186000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr3:140185400-140187000	Enhancers	Placenta	Placenta
7	chr3:140185600-140186200	Enhancers	Placenta Amnion	Placenta Amnion
8	chr3:140185600-140186600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr3:140185600-140186600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr3:140185600-140186600	Enhancers	Left Ventricle	heart
11	chr3:140185600-140186800	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr3:140185600-140187600	Genic enhancers	HSMMtube	muscle
13	chr3:140185600-140192000	Enhancers	NHDF-Ad	bronchial
14	chr3:140185800-140186000	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr3:140185800-140186000	Enhancers	Brain Cingulate Gyrus	brain
16	chr3:140185800-140186200	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
17	chr3:140185800-140186200	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr3:140185800-140186600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr3:140185800-140186600	Enhancers	HMEC	breast
20	chr3:140185800-140186800	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr3:140185800-140186800	Enhancers	Right Ventricle	heart
22	chr3:140185800-140187600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr3:140185800-140187600	Enhancers	Osteobl	bone
24	chr3:140185800-140188600	Enhancers	Muscle Satellite Cultured Cells	--
25	chr3:140185800-140190400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr3:140185800-140192200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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