Variant report

Variant	rs547856744
Chromosome Location	chr3:49765807-49765808
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	chr3:49761055..49763701-chr3:49764283..49769369,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000173540	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv508217	chr3:49615446-49769896	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	esv1796352	chr3:49687101-49949959	Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription 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 miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv967216	chr3:49764885-49776535	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49762000-49770000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr3:49762000-49773800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr3:49762000-49775000	Weak transcription	Psoas Muscle	Psoas
4	chr3:49762000-49778000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr3:49762200-49768800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr3:49762200-49769000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr3:49762400-49766000	Strong transcription	Fetal Lung	lung
8	chr3:49762400-49766400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr3:49762400-49768800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr3:49762400-49768800	Weak transcription	HUVEC	blood vessel
11	chr3:49762400-49771000	Strong transcription	Brain Inferior Temporal Lobe	brain
12	chr3:49762400-49772200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr3:49762400-49773000	Weak transcription	Fetal Heart	heart
14	chr3:49762400-49776800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr3:49762400-49781600	Strong transcription	Fetal Stomach	stomach
16	chr3:49762600-49766000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr3:49762600-49766000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr3:49762600-49766000	Strong transcription	Brain Angular Gyrus	brain
19	chr3:49762600-49766000	Strong transcription	Thymus	Thymus
20	chr3:49762600-49768400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr3:49762600-49768400	Weak transcription	Fetal Brain Male	brain
22	chr3:49762600-49770400	Strong transcription	Brain Germinal Matrix	brain
23	chr3:49762600-49774600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr3:49762600-49776400	Strong transcription	Fetal Brain Female	brain
25	chr3:49762600-49776800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr3:49762600-49777000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr3:49762600-49777200	Strong transcription	Primary neutrophils fromperipheralblood	blood
28	chr3:49762600-49777600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr3:49762600-49781800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr3:49762600-49785200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr3:49762600-49809000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr3:49762800-49766000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr3:49762800-49766000	Strong transcription	Brain Substantia Nigra	brain
34	chr3:49762800-49766600	Strong transcription	Colon Smooth Muscle	Colon
35	chr3:49762800-49766600	Strong transcription	Duodenum Smooth Muscle	Duodenum
36	chr3:49762800-49770000	Strong transcription	Fetal Intestine Small	intestine
37	chr3:49762800-49770800	Strong transcription	Fetal Intestine Large	intestine
38	chr3:49762800-49771000	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr3:49762800-49775600	Strong transcription	Fetal Thymus	thymus
40	chr3:49762800-49776400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr3:49762800-49776600	Strong transcription	Cortex derived primary cultured neurospheres	brain
42	chr3:49763000-49766000	Strong transcription	HUES48 Cell Line	embryonic stem cell
43	chr3:49763000-49766600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr3:49763000-49766800	Strong transcription	Left Ventricle	heart
45	chr3:49763000-49767000	Strong transcription	Osteobl	bone
46	chr3:49763000-49770800	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr3:49763000-49776400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr3:49763000-49776600	Strong transcription	Placenta	Placenta
49	chr3:49763000-49776800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr3:49763000-49784800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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