Variant report

Variant	rs73231216
Chromosome Location	chr3:140186659-140186660
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	KAP1	chr3:140185818-140186694	U2OS	brain:	n/a	n/a
2	CTCF	chr3:140186540-140186690	HRE	kidney:	n/a	n/a

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

Variant related genes	Relation type
ENSG00000251058	TF binding region

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10513115	1.00[ASN][1000 genomes]
rs12629444	1.00[ASN][1000 genomes]
rs12629920	0.84[ASN][1000 genomes]
rs12630402	1.00[ASN][1000 genomes]
rs12630595	0.90[ASN][1000 genomes]
rs12632435	0.99[ASN][1000 genomes]
rs12632522	0.84[ASN][1000 genomes]
rs12633853	0.94[ASN][1000 genomes]
rs12634135	1.00[ASN][1000 genomes]
rs12637306	1.00[ASN][1000 genomes]
rs12637548	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12639333	0.85[ASN][1000 genomes]
rs12639367	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12639449	0.97[ASN][1000 genomes]
rs12639512	1.00[ASN][1000 genomes]
rs12639527	1.00[ASN][1000 genomes]
rs12639548	1.00[ASN][1000 genomes]
rs17415202	0.81[ASN][1000 genomes]
rs2081804	0.96[ASN][1000 genomes]
rs28855402	0.85[ASN][1000 genomes]
rs28896542	0.85[ASN][1000 genomes]
rs55745214	0.90[ASN][1000 genomes]
rs55905797	1.00[ASN][1000 genomes]
rs55955749	1.00[ASN][1000 genomes]
rs56055908	1.00[ASN][1000 genomes]
rs56144656	1.00[ASN][1000 genomes]
rs56162844	0.85[ASN][1000 genomes]
rs56167447	0.85[ASN][1000 genomes]
rs56178346	1.00[ASN][1000 genomes]
rs56205320	0.85[ASN][1000 genomes]
rs59359471	0.85[ASN][1000 genomes]
rs73231210	0.99[ASN][1000 genomes]
rs73231212	0.99[ASN][1000 genomes]
rs73231213	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73231214	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73231215	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73231219	1.00[ASN][1000 genomes]
rs73231221	1.00[ASN][1000 genomes]
rs73231225	1.00[ASN][1000 genomes]
rs73231228	0.96[ASN][1000 genomes]
rs73231230	0.90[ASN][1000 genomes]
rs73231231	0.90[ASN][1000 genomes]
rs73231241	0.90[ASN][1000 genomes]
rs73231242	0.87[ASN][1000 genomes]
rs73231244	0.87[ASN][1000 genomes]
rs73231248	0.85[ASN][1000 genomes]
rs73231252	0.85[ASN][1000 genomes]
rs7614244	0.85[ASN][1000 genomes]
rs7618181	0.96[ASN][1000 genomes]
rs8179950	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	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
7	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
8	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
9	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:38 , 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	chr3:140185400-140187000	Enhancers	Placenta	Placenta
4	chr3:140185600-140186800	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr3:140185600-140187600	Genic enhancers	HSMMtube	muscle
6	chr3:140185600-140192000	Enhancers	NHDF-Ad	bronchial
7	chr3:140185800-140186800	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr3:140185800-140186800	Enhancers	Right Ventricle	heart
9	chr3:140185800-140187600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr3:140185800-140187600	Enhancers	Osteobl	bone
11	chr3:140185800-140188600	Enhancers	Muscle Satellite Cultured Cells	--
12	chr3:140185800-140190400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr3:140185800-140192200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr3:140186000-140187000	Enhancers	A549	lung
15	chr3:140186000-140187200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr3:140186000-140187200	Weak transcription	Brain Cingulate Gyrus	brain
17	chr3:140186000-140187600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr3:140186000-140187600	Enhancers	Fetal Brain Male	brain
19	chr3:140186000-140187600	Enhancers	Fetal Stomach	stomach
20	chr3:140186000-140189000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr3:140186000-140192400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr3:140186200-140187000	Enhancers	NH-A	brain
23	chr3:140186200-140187200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr3:140186200-140187200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr3:140186200-140187400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr3:140186200-140187400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr3:140186200-140187600	Enhancers	Fetal Brain Female	brain
28	chr3:140186200-140187600	Enhancers	HSMM	muscle
29	chr3:140186400-140186800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
30	chr3:140186400-140187400	Enhancers	Fetal Lung	lung
31	chr3:140186600-140186800	Enhancers	Fetal Muscle Leg	muscle
32	chr3:140186600-140187000	Enhancers	Brain Angular Gyrus	brain
33	chr3:140186600-140187400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr3:140186600-140187400	Weak transcription	Left Ventricle	heart
35	chr3:140186600-140188200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr3:140186600-140189200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr3:140186600-140191800	Weak transcription	HMEC	breast
38	chr3:140186600-140197800	Weak transcription	Adipose Nuclei	Adipose

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