Variant report

Variant	rs571879248
Chromosome Location	chr3:138107494-138107495
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:138099681..138102999-chr3:138104936..138107535,3	MCF-7	breast:
2	chr3:138094416..138096515-chr3:138105748..138108016,2	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530056	chr3:137312356-138161861	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv877537	chr3:137979007-138215114	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	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
4	nsv528349	chr3:138025396-138132393	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv1796956	chr3:138051423-138122781	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	esv1848610	chr3:138051423-138133412	Bivalent Enhancer Genic enhancers Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	esv1797142	chr3:138087467-138122781	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	esv1845560	chr3:138087467-138133412	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	esv3447663	chr3:138096329-138273034	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv460864	chr3:138100539-138194435	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
11	nsv591853	chr3:138100539-138194435	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
12	nsv526089	chr3:138106698-138122781	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:138076000-138108200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr3:138081600-138108200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr3:138090400-138119400	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr3:138097600-138116000	Weak transcription	Aorta	Aorta
5	chr3:138097600-138116600	Weak transcription	Brain Germinal Matrix	brain
6	chr3:138101200-138115000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr3:138101400-138108000	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr3:138101400-138108400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr3:138101400-138123000	Weak transcription	Fetal Lung	lung
10	chr3:138101600-138107800	Weak transcription	Osteobl	bone
11	chr3:138101600-138108000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr3:138101600-138108200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr3:138101600-138108200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr3:138101600-138108200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr3:138101600-138120400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr3:138101800-138108000	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr3:138101800-138108200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr3:138101800-138108200	Weak transcription	Pancreas	Pancrea
19	chr3:138101800-138108400	Weak transcription	Fetal Muscle Leg	muscle
20	chr3:138101800-138108400	Weak transcription	Rectal Smooth Muscle	rectum
21	chr3:138101800-138108600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr3:138102000-138108200	Weak transcription	Esophagus	oesophagus
23	chr3:138102000-138108200	Weak transcription	Fetal Muscle Trunk	muscle
24	chr3:138102400-138108000	Weak transcription	Psoas Muscle	Psoas
25	chr3:138102600-138108000	Weak transcription	Colon Smooth Muscle	Colon
26	chr3:138102600-138108200	Weak transcription	Stomach Smooth Muscle	stomach
27	chr3:138102600-138109200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr3:138103000-138108000	Weak transcription	Ovary	ovary
29	chr3:138103200-138108000	Weak transcription	Brain Hippocampus Middle	brain
30	chr3:138103400-138108600	Weak transcription	NHEK	skin
31	chr3:138103600-138108200	Weak transcription	HMEC	breast
32	chr3:138103800-138107600	Weak transcription	Brain Anterior Caudate	brain
33	chr3:138103800-138108000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr3:138103800-138108000	Weak transcription	Brain Cingulate Gyrus	brain
35	chr3:138103800-138108200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr3:138103800-138108200	Weak transcription	Lung	lung
37	chr3:138103800-138108600	Weak transcription	Brain Angular Gyrus	brain
38	chr3:138103800-138109200	Weak transcription	Brain Substantia Nigra	brain
39	chr3:138104800-138108000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr3:138105200-138109000	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr3:138105400-138108400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr3:138106000-138108400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr3:138106000-138109400	Enhancers	Left Ventricle	heart
44	chr3:138106200-138108800	Weak transcription	Fetal Stomach	stomach
45	chr3:138106200-138109800	Enhancers	Adipose Nuclei	Adipose
46	chr3:138106600-138108000	Weak transcription	Right Atrium	heart
47	chr3:138106800-138107800	Weak transcription	Right Ventricle	heart
48	chr3:138106800-138108000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr3:138106800-138108000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr3:138106800-138108000	Weak transcription	Skeletal Muscle Male	skeletal muscle

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