Variant report

Variant	rs56175329
Chromosome Location	chr3:51458986-51458987
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11712780	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11715034	0.92[AFR][1000 genomes]
rs11716246	0.92[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs11720298	0.84[ASN][1000 genomes]
rs7623949	0.80[ASN][1000 genomes]

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	nsv1014464	chr3:51220151-51909780	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv460536	chr3:51395571-51469107	Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv590276	chr3:51395571-51469107	Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv590277	chr3:51408051-51474418	Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	esv3369762	chr3:51449727-51469314	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	esv3444499	chr3:51449727-51469614	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 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	chr3:51431400-51471200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr3:51432400-51460000	Strong transcription	Liver	Liver
3	chr3:51433400-51477400	Weak transcription	Fetal Heart	heart
4	chr3:51434000-51475600	Strong transcription	Primary T cells fromperipheralblood	blood
5	chr3:51434200-51460200	Strong transcription	Dnd41	blood
6	chr3:51434200-51477600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr3:51434600-51471000	Weak transcription	Stomach Mucosa	stomach
8	chr3:51435200-51478000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr3:51435600-51460200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr3:51436600-51461000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr3:51436800-51461000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr3:51437800-51460000	Strong transcription	Duodenum Mucosa	Duodenum
13	chr3:51439800-51478000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr3:51440000-51460200	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr3:51440800-51478200	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr3:51441000-51460200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr3:51441600-51461400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr3:51444000-51460600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr3:51444000-51461200	Strong transcription	Placenta	Placenta
20	chr3:51444800-51460000	Strong transcription	Primary T cells from cord blood	blood
21	chr3:51444800-51477800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr3:51445400-51460400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr3:51445400-51478400	Strong transcription	Primary B cells from peripheral blood	blood
24	chr3:51445600-51460200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr3:51445600-51460400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr3:51445800-51460000	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr3:51445800-51460000	Strong transcription	Duodenum Smooth Muscle	Duodenum
28	chr3:51445800-51460200	Strong transcription	Adipose Nuclei	Adipose
29	chr3:51446000-51459400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr3:51446000-51460600	Strong transcription	Fetal Thymus	thymus
31	chr3:51446000-51460800	Strong transcription	Primary neutrophils fromperipheralblood	blood
32	chr3:51446200-51460200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr3:51446200-51460400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr3:51446200-51460400	Strong transcription	Rectal Mucosa Donor 31	rectum
35	chr3:51446200-51460600	Strong transcription	Primary T helper cells PMA-I stimulated	--
36	chr3:51446200-51471000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr3:51446400-51459200	Strong transcription	Left Ventricle	heart
38	chr3:51446400-51460000	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr3:51446400-51460000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr3:51446400-51461000	Strong transcription	Cortex derived primary cultured neurospheres	brain
41	chr3:51446400-51461200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr3:51446400-51461200	Strong transcription	Fetal Muscle Trunk	muscle
43	chr3:51446400-51461200	Strong transcription	Thymus	Thymus
44	chr3:51446600-51460000	Strong transcription	Brain Anterior Caudate	brain
45	chr3:51446600-51460000	Strong transcription	Rectal Mucosa Donor 29	rectum
46	chr3:51446800-51459000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr3:51446800-51460000	Strong transcription	Brain Cingulate Gyrus	brain
48	chr3:51446800-51460000	Strong transcription	Skeletal Muscle Male	skeletal muscle
49	chr3:51446800-51460200	Strong transcription	Stomach Smooth Muscle	stomach
50	chr3:51447000-51460000	Strong transcription	iPS-18 Cell Line	embryonic stem cell

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