Variant report

Variant	rs11712887
Chromosome Location	chr3:120179191-120179192
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:120176725..120179691-chr3:120180147..120181932,2	K562	blood:
2	chr3:120162045..120164742-chr3:120177102..120179636,2	MCF-7	breast:
3	chr3:120176936..120179365-chr3:120189177..120190787,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11710885	0.84[ASN][1000 genomes]
rs1259310	0.84[ASN][1000 genomes]
rs13099637	0.92[ASN][1000 genomes]
rs13326852	0.88[EUR][1000 genomes]
rs35547467	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4676787	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4676789	0.97[ASN][1000 genomes]
rs61797573	0.86[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs7622005	0.97[ASN][1000 genomes]
rs9838077	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007557	chr3:119892894-120764353	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv536706	chr3:119892894-120764353	Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv1012127	chr3:120015620-120272893	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv536707	chr3:120015620-120272893	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv1006428	chr3:120015620-120421982	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	esv3369381	chr3:120066425-120425510	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	esv3350409	chr3:120066445-120425480	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:120170400-120190800	Weak transcription	Aorta	Aorta
2	chr3:120171000-120179600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr3:120171400-120179400	Weak transcription	Colon Smooth Muscle	Colon
4	chr3:120171800-120180600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr3:120173600-120179200	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr3:120177200-120180600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr3:120177600-120180400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr3:120178200-120179200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr3:120178200-120179400	Enhancers	Muscle Satellite Cultured Cells	--
10	chr3:120178200-120180800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr3:120178200-120180800	Enhancers	NHLF	lung
12	chr3:120178200-120181200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr3:120178200-120181600	Enhancers	Right Atrium	heart
14	chr3:120178400-120179600	Enhancers	HSMM	muscle
15	chr3:120178600-120180000	Enhancers	Fetal Muscle Leg	muscle
16	chr3:120178600-120180000	Enhancers	HSMMtube	muscle
17	chr3:120178600-120181200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr3:120178600-120181200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr3:120178800-120179200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr3:120178800-120179200	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr3:120178800-120179600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr3:120178800-120179800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr3:120178800-120179800	Enhancers	Fetal Kidney	kidney
24	chr3:120178800-120179800	Weak transcription	Left Ventricle	heart
25	chr3:120178800-120180000	Enhancers	Stomach Smooth Muscle	stomach
26	chr3:120178800-120180800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr3:120178800-120181200	Enhancers	Brain Germinal Matrix	brain
28	chr3:120179000-120179400	Enhancers	Placenta Amnion	Placenta Amnion
29	chr3:120179000-120179600	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr3:120179000-120179800	Enhancers	Brain Hippocampus Middle	brain
31	chr3:120179000-120180400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr3:120179000-120180600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr3:120179000-120180800	Enhancers	Fetal Brain Male	brain

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