Variant report

Variant	rs113772533
Chromosome Location	chr3:52293030-52293031
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:52282177..52283761-chr3:52291463..52293959,2	K562	blood:
2	chr3:52292200..52293754-chr3:52305089..52307890,2	MCF-7	breast:
3	chr3:52289327..52293774-chr3:52294215..52297996,5	MCF-7	breast:
4	chr3:52292693..52296785-chr3:52298955..52303017,4	K562	blood:
5	chr3:52290955..52293788-chr3:52297158..52298749,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164091	Chromatin interaction
ENSG00000164088	Chromatin interaction
ENSG00000199150	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519445	chr3:52004317-52367932	Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
2	nsv470572	chr3:52123313-52350212	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	103 gene(s)	inside rSNPs	diseases
3	nsv834694	chr3:52178983-52335821	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	102 gene(s)	inside rSNPs	diseases
4	nsv834695	chr3:52199701-52400577	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	98 gene(s)	inside rSNPs	diseases
5	nsv876787	chr3:52236762-52367932	Genic enhancers Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	90 gene(s)	inside rSNPs	diseases
6	nsv876788	chr3:52247110-52367932	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	90 gene(s)	inside rSNPs	diseases
7	nsv876789	chr3:52247110-52575831	Flanking Active TSS Bivalent Enhancer Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
8	nsv984542	chr3:52285682-52516115	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	94 gene(s)	inside rSNPs	diseases
9	nsv822090	chr3:52292814-52311153	Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:52281800-52303400	Weak transcription	Right Atrium	heart
2	chr3:52282000-52298800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr3:52282000-52299400	Strong transcription	Liver	Liver
4	chr3:52282200-52293200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr3:52282200-52303000	Strong transcription	Fetal Lung	lung
6	chr3:52282200-52310000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr3:52282400-52297200	Strong transcription	Duodenum Smooth Muscle	Duodenum
8	chr3:52282400-52309600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr3:52282600-52304000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr3:52282600-52308200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr3:52282800-52303800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr3:52282800-52305000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr3:52283000-52306000	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr3:52283200-52308400	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr3:52283400-52304600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr3:52283400-52305400	Strong transcription	Brain Germinal Matrix	brain
17	chr3:52283600-52308800	Strong transcription	Fetal Muscle Trunk	muscle
18	chr3:52283800-52309600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chr3:52284400-52304800	Strong transcription	Cortex derived primary cultured neurospheres	brain
20	chr3:52284600-52305800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
21	chr3:52284800-52300200	Strong transcription	Pancreas	Pancrea
22	chr3:52285000-52302600	Strong transcription	A549	lung
23	chr3:52285600-52308400	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr3:52285800-52307400	Strong transcription	H1 Cell Line	embryonic stem cell
25	chr3:52286000-52298200	Strong transcription	Gastric	stomach
26	chr3:52286000-52302200	Strong transcription	Left Ventricle	heart
27	chr3:52286400-52306800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr3:52286600-52293400	Strong transcription	NHDF-Ad	bronchial
29	chr3:52286600-52303400	Strong transcription	NHLF	lung
30	chr3:52287000-52293400	Strong transcription	HSMMtube	muscle
31	chr3:52287200-52294000	Strong transcription	H9 Cell Line	embryonic stem cell
32	chr3:52287200-52296800	Strong transcription	Right Ventricle	heart
33	chr3:52287400-52295200	Strong transcription	Aorta	Aorta
34	chr3:52287400-52305400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr3:52287400-52305600	Strong transcription	HepG2	liver
36	chr3:52287600-52293600	Strong transcription	HMEC	breast
37	chr3:52287800-52294600	Strong transcription	Small Intestine	intestine
38	chr3:52287800-52302200	Strong transcription	Lung	lung
39	chr3:52288000-52293200	Strong transcription	Brain Angular Gyrus	brain
40	chr3:52288000-52303400	Strong transcription	Skeletal Muscle Male	skeletal muscle
41	chr3:52288000-52304200	Strong transcription	Muscle Satellite Cultured Cells	--
42	chr3:52288000-52304200	Strong transcription	Rectal Mucosa Donor 31	rectum
43	chr3:52288000-52304400	Genic enhancers	Primary T cells fromperipheralblood	blood
44	chr3:52288000-52305000	Strong transcription	Fetal Brain Female	brain
45	chr3:52288000-52305800	Strong transcription	Fetal Muscle Leg	muscle
46	chr3:52288200-52293200	Strong transcription	Brain Hippocampus Middle	brain
47	chr3:52288200-52293200	Strong transcription	Brain Inferior Temporal Lobe	brain
48	chr3:52288200-52293400	Genic enhancers	Dnd41	blood
49	chr3:52288200-52296000	Strong transcription	Primary neutrophils fromperipheralblood	blood
50	chr3:52288200-52296000	Genic enhancers	Primary T helper cells PMA-I stimulated	--

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