Variant report

Variant	rs537120703
Chromosome Location	chr3:49720805-49720806
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:49710552..49715225-chr3:49718907..49727364,14	MCF-7	breast:
2	chr3:49719726..49722448-chr3:49723596..49725872,2	K562	blood:
3	chr3:49719547..49721441-chr3:49726309..49728909,2	K562	blood:
4	chr3:49715255..49718446-chr3:49718549..49721372,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164062	Chromatin interaction
ENSG00000173531	Chromatin interaction
ENSG00000164068	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 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	esv1825898	chr3:49688948-49764849	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
4	esv1808511	chr3:49689880-49744825	Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
5	nsv820990	chr3:49720651-49735911	Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
6	esv12377	chr3:49720751-49735851	Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 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	chr3:49712200-49723800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr3:49712800-49722200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr3:49712800-49722200	Strong transcription	Fetal Stomach	stomach
4	chr3:49712800-49723600	Weak transcription	Right Atrium	heart
5	chr3:49712800-49726200	Weak transcription	Small Intestine	intestine
6	chr3:49713000-49721200	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr3:49713000-49721400	Strong transcription	NHEK	skin
8	chr3:49713000-49721600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
9	chr3:49713000-49721600	Strong transcription	Brain Substantia Nigra	brain
10	chr3:49713000-49721600	Strong transcription	NHLF	lung
11	chr3:49713000-49722000	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr3:49713000-49722000	Strong transcription	Stomach Smooth Muscle	stomach
13	chr3:49713000-49722200	Strong transcription	Duodenum Smooth Muscle	Duodenum
14	chr3:49713000-49722400	Strong transcription	H9 Cell Line	embryonic stem cell
15	chr3:49713000-49722400	Strong transcription	Cortex derived primary cultured neurospheres	brain
16	chr3:49713000-49722600	Strong transcription	HUES6 Cell Line	embryonic stem cell
17	chr3:49713000-49722800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr3:49713000-49722800	Strong transcription	Thymus	Thymus
19	chr3:49713000-49723200	Weak transcription	Stomach Mucosa	stomach
20	chr3:49713000-49723400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr3:49713000-49723800	Weak transcription	Fetal Heart	heart
22	chr3:49713200-49721400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr3:49713200-49721400	Strong transcription	Colon Smooth Muscle	Colon
24	chr3:49713200-49721400	Strong transcription	Left Ventricle	heart
25	chr3:49713200-49721600	Strong transcription	Rectal Smooth Muscle	rectum
26	chr3:49713200-49721800	Strong transcription	H1 Cell Line	embryonic stem cell
27	chr3:49713200-49721800	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr3:49713200-49722000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr3:49713200-49722000	Strong transcription	Brain Inferior Temporal Lobe	brain
30	chr3:49713200-49722000	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr3:49713200-49722200	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr3:49713200-49722200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
33	chr3:49713200-49722200	Strong transcription	Placenta	Placenta
34	chr3:49713200-49722400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
35	chr3:49713200-49722400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr3:49713200-49722400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr3:49713200-49722400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr3:49713200-49722400	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr3:49713200-49722600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr3:49713200-49722600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr3:49713200-49722600	Strong transcription	Brain Germinal Matrix	brain
42	chr3:49713200-49722800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr3:49713200-49723000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr3:49713200-49723000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr3:49713400-49721400	Strong transcription	Aorta	Aorta
46	chr3:49713400-49721400	Strong transcription	Hela-S3	cervix
47	chr3:49713400-49721600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr3:49713400-49721600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr3:49713400-49721600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr3:49713400-49721600	Strong transcription	Fetal Lung	lung

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