Variant report

Variant	rs71577045
Chromosome Location	chr2:112430528-112430529
allele	lengthTooLong
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	SP1	chr2:112430494-112430830	HepG2	liver:	n/a	n/a
2	REST	chr2:112430523-112430665	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
ENSG00000237583	TF binding region

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs12937609	0.84[AFR][1000 genomes]
rs12939229	1.00[EUR][1000 genomes]
rs12940109	0.83[AMR][1000 genomes]
rs12940881	0.83[AMR][1000 genomes]
rs12940956	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12942766	0.81[AFR][1000 genomes]
rs12943974	1.00[EUR][1000 genomes]
rs12944316	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12945363	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12947238	0.83[AMR][1000 genomes]
rs12953178	0.83[AMR][1000 genomes]
rs17144857	1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs17144865	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs17144871	0.87[ASN][1000 genomes]
rs17144899	1.00[AMR][1000 genomes]
rs2161349	1.00[ASN][1000 genomes]
rs34170152	1.00[EUR][1000 genomes]
rs34821956	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34904106	0.83[AMR][1000 genomes]
rs34910003	0.83[AMR][1000 genomes]
rs34983824	0.83[AMR][1000 genomes]
rs35152961	1.00[EUR][1000 genomes]
rs35194764	0.83[AMR][1000 genomes]
rs35269184	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35366897	0.83[AMR][1000 genomes]
rs35499078	0.83[AMR][1000 genomes]
rs35656573	0.83[AMR][1000 genomes]
rs35790121	1.00[EUR][1000 genomes]
rs35829705	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35846515	1.00[EUR][1000 genomes]
rs35853230	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs35896550	0.83[AMR][1000 genomes]
rs35953148	0.82[AFR][1000 genomes]
rs36106822	1.00[EUR][1000 genomes]
rs57938769	0.83[AMR][1000 genomes]
rs59775294	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6503512	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6884405	0.87[ASN][1000 genomes]
rs71369740	1.00[EUR][1000 genomes]
rs71369741	1.00[EUR][1000 genomes]
rs71369742	1.00[EUR][1000 genomes]
rs71369746	0.82[AFR][1000 genomes]
rs71369747	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs71369763	0.83[AMR][1000 genomes]
rs71369765	0.83[AMR][1000 genomes]
rs71369767	0.83[AMR][1000 genomes]
rs7212530	0.83[AMR][1000 genomes]
rs7212780	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7218668	0.83[AMR][1000 genomes]
rs7226222	0.83[AMR][1000 genomes]
rs7708024	1.00[ASN][1000 genomes]
rs8064372	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8068102	0.80[AFR][1000 genomes]
rs8069194	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8071061	1.00[EUR][1000 genomes]
rs8072801	1.00[EUR][1000 genomes]
rs8073144	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8074199	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs8076843	0.83[AMR][1000 genomes]
rs8077259	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8077822	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8079346	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8080830	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs8081561	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs9747574	0.83[AMR][1000 genomes]
rs9747666	0.83[AMR][1000 genomes]
rs976586	1.00[ASN][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	esv1803356	chr2:111899783-112662597	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv428402	chr2:111899783-112662597	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	esv1801950	chr2:111899783-112746937	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	esv2757825	chr2:111899783-112746937	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
5	esv2759083	chr2:111899783-112746937	Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
6	esv1804157	chr2:112012230-112597338	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
7	esv1791981	chr2:112012230-112601415	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS 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	22 gene(s)	inside rSNPs	diseases
8	nsv869322	chr2:112046621-112592146	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
9	nsv1005124	chr2:112068777-112470883	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
10	esv1797237	chr2:112126837-112592287	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
11	esv2753073	chr2:112212769-112491769	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
12	esv3386469	chr2:112215911-112447472	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
13	nsv874857	chr2:112354445-112473872	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
14	nsv874858	chr2:112354445-112512202	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 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	chr2:112418000-112431200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr2:112419800-112435800	Weak transcription	Fetal Kidney	kidney
3	chr2:112423600-112436400	Weak transcription	K562	blood
4	chr2:112425600-112431200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr2:112426200-112431200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr2:112428200-112436200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:112428600-112431200	Weak transcription	Fetal Heart	heart
8	chr2:112428800-112435000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr2:112428800-112436000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:112429000-112432600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr2:112429200-112431200	Weak transcription	HepG2	liver
12	chr2:112429400-112431000	Weak transcription	Fetal Lung	lung
13	chr2:112429400-112432600	Weak transcription	Thymus	Thymus
14	chr2:112429400-112432600	Weak transcription	NHLF	lung
15	chr2:112429400-112433200	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr2:112429400-112433600	Weak transcription	HSMM	muscle
17	chr2:112429600-112431000	Weak transcription	Gastric	stomach
18	chr2:112429600-112431000	Weak transcription	Dnd41	blood
19	chr2:112429600-112431200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr2:112429600-112431200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:112429600-112431200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr2:112429600-112431200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr2:112429600-112431200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr2:112429600-112431200	Weak transcription	Fetal Muscle Trunk	muscle
25	chr2:112429600-112431200	Weak transcription	Fetal Thymus	thymus
26	chr2:112429600-112431200	Weak transcription	Psoas Muscle	Psoas
27	chr2:112429600-112431200	Weak transcription	HSMMtube	muscle
28	chr2:112429600-112431200	Weak transcription	NHDF-Ad	bronchial
29	chr2:112429600-112431400	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr2:112429600-112433200	Weak transcription	Placenta	Placenta
31	chr2:112429600-112433600	Weak transcription	Liver	Liver
32	chr2:112429600-112435200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr2:112429600-112435800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr2:112429800-112431200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr2:112429800-112431200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr2:112429800-112431200	Weak transcription	Fetal Muscle Leg	muscle
37	chr2:112429800-112432600	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr2:112429800-112432600	Weak transcription	Monocytes-CD14+_RO01746	blood

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