Variant report

Variant	rs550879072
Chromosome Location	chr3:142762514-142762515
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:142760861..142763721-chr3:142838517..142840129,2	K562	blood:
2	chr3:142760714..142763385-chr3:142766244..142768333,2	MCF-7	breast:

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877562	chr3:142573789-142846370	Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	esv2757893	chr3:142720230-142962932	Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv2759183	chr3:142720230-142964373	Strong transcription Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv591921	chr3:142762487-142841740	Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142727400-142764400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr3:142728600-142769000	Weak transcription	Pancreas	Pancrea
3	chr3:142729200-142765000	Strong transcription	Dnd41	blood
4	chr3:142729200-142785200	Weak transcription	Aorta	Aorta
5	chr3:142729400-142764800	Strong transcription	K562	blood
6	chr3:142729800-142764800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr3:142729800-142765000	Strong transcription	Primary T helper cells fromperipheralblood	blood
8	chr3:142730200-142765000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr3:142730200-142765000	Strong transcription	Fetal Thymus	thymus
10	chr3:142732800-142765000	Strong transcription	HSMM	muscle
11	chr3:142733200-142764400	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr3:142734400-142785200	Weak transcription	Esophagus	oesophagus
13	chr3:142740000-142769200	Weak transcription	Gastric	stomach
14	chr3:142740200-142763200	Weak transcription	Lung	lung
15	chr3:142742400-142764800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
16	chr3:142742600-142764200	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr3:142743600-142763200	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr3:142743600-142764400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chr3:142749000-142763600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr3:142749000-142784200	Weak transcription	Small Intestine	intestine
21	chr3:142749200-142763000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr3:142749200-142763600	Weak transcription	Psoas Muscle	Psoas
23	chr3:142749200-142765000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr3:142749200-142769000	Weak transcription	Right Ventricle	heart
25	chr3:142749200-142779000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr3:142751200-142762600	Weak transcription	Fetal Intestine Small	intestine
27	chr3:142751200-142763000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr3:142753400-142762600	Weak transcription	Fetal Stomach	stomach
29	chr3:142754200-142769800	Weak transcription	Colonic Mucosa	Colon
30	chr3:142755200-142764800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr3:142755400-142764800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr3:142755800-142765000	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr3:142755800-142765000	Strong transcription	Primary T helper cells PMA-I stimulated	--
34	chr3:142755800-142765000	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr3:142756000-142774400	Weak transcription	Stomach Mucosa	stomach
36	chr3:142756200-142762800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr3:142756200-142762800	Weak transcription	Brain Cingulate Gyrus	brain
38	chr3:142756200-142763000	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr3:142756200-142769200	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr3:142757400-142762600	Weak transcription	Brain Germinal Matrix	brain
41	chr3:142759800-142764400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr3:142759800-142765000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr3:142760000-142765000	Strong transcription	Hela-S3	cervix
44	chr3:142760600-142763000	Strong transcription	GM12878-XiMat	blood
45	chr3:142760600-142764200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr3:142760600-142764400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr3:142760600-142764600	Strong transcription	A549	lung
48	chr3:142760600-142764800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr3:142760600-142764800	Strong transcription	Primary T cells from cord blood	blood
50	chr3:142760600-142764800	Strong transcription	Primary T cells fromperipheralblood	blood

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