Variant report

Variant	rs3731547
Chromosome Location	chr3:48206720-48206721
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10780032	1.00[EUR][1000 genomes]
rs11130161	1.00[YRI][hapmap]
rs11130169	1.00[EUR][1000 genomes]
rs1459247	1.00[YRI][hapmap]
rs1870441	1.00[YRI][hapmap]
rs2593817	1.00[AMR][1000 genomes]
rs319683	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3731495	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3731532	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs3731539	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4476528	1.00[AMR][1000 genomes]
rs4858818	1.00[EUR][1000 genomes]
rs55808934	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6442092	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6442101	0.92[YRI][hapmap]
rs6442103	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6442104	1.00[AMR][1000 genomes]
rs6773945	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6793732	1.00[EUR][1000 genomes]
rs6801348	1.00[EUR][1000 genomes]
rs6803741	1.00[YRI][hapmap]
rs7372108	1.00[AMR][1000 genomes]
rs73831540	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73831544	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73831562	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73831565	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73831572	1.00[EUR][1000 genomes]
rs876597	1.00[YRI][hapmap]
rs9825114	1.00[YRI][hapmap]
rs9852211	1.00[EUR][1000 genomes]
rs9863220	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs986742	1.00[YRI][hapmap]
rs9917799	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

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	nsv529989	chr3:47909480-48301481	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv1001056	chr3:47912342-48223849	Genic enhancers Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	esv1827272	chr3:47912703-48260968	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv1009243	chr3:47935331-48340448	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv536562	chr3:47935331-48340448	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	nsv1002067	chr3:47996472-48326518	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription 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 miRNA target site	43 gene(s)	inside rSNPs	diseases
7	nsv1004557	chr3:48056534-48256694	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
8	nsv1012024	chr3:48119229-48242670	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
9	nsv834682	chr3:48138137-48311122	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:48193000-48228400	Weak transcription	Rectal Smooth Muscle	rectum
2	chr3:48193200-48206800	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr3:48193400-48206800	Weak transcription	Stomach Smooth Muscle	stomach
4	chr3:48193400-48210400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr3:48193600-48228200	Weak transcription	Pancreas	Pancrea
6	chr3:48193800-48228400	Weak transcription	Adipose Nuclei	Adipose
7	chr3:48193800-48228600	Weak transcription	Brain Substantia Nigra	brain
8	chr3:48193800-48228800	Weak transcription	Brain Angular Gyrus	brain
9	chr3:48194000-48215600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr3:48194000-48217000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr3:48194000-48217600	Weak transcription	Right Atrium	heart
12	chr3:48194000-48228400	Weak transcription	Right Ventricle	heart
13	chr3:48194000-48228800	Weak transcription	Left Ventricle	heart
14	chr3:48195600-48226200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr3:48196800-48211800	Weak transcription	Stomach Mucosa	stomach
16	chr3:48197600-48211600	Strong transcription	Fetal Thymus	thymus
17	chr3:48197600-48227200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr3:48197800-48227600	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr3:48198000-48212200	Strong transcription	Thymus	Thymus
20	chr3:48198400-48211800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr3:48198400-48220200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr3:48198400-48222000	Strong transcription	Dnd41	blood
23	chr3:48198400-48227600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr3:48198400-48227800	Strong transcription	H9 Cell Line	embryonic stem cell
25	chr3:48198400-48228000	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr3:48198400-48228000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr3:48198400-48228200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr3:48198400-48228200	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr3:48198600-48211400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr3:48198800-48210000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr3:48198800-48212200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
32	chr3:48199000-48218600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr3:48199000-48227600	Strong transcription	Cortex derived primary cultured neurospheres	brain
34	chr3:48199200-48219400	Strong transcription	Fetal Stomach	stomach
35	chr3:48199200-48227800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr3:48199400-48223000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr3:48199600-48209400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr3:48199600-48219400	Strong transcription	Fetal Intestine Small	intestine
39	chr3:48199600-48227000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr3:48199800-48210000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr3:48199800-48211200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr3:48199800-48212400	Strong transcription	Fetal Muscle Leg	muscle
43	chr3:48199800-48228000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
44	chr3:48200000-48209400	Strong transcription	Muscle Satellite Cultured Cells	--
45	chr3:48200000-48209400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr3:48200000-48210400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr3:48200000-48211800	Strong transcription	Primary neutrophils fromperipheralblood	blood
48	chr3:48200000-48226400	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr3:48200000-48227600	Strong transcription	Fetal Muscle Trunk	muscle
50	chr3:48200200-48227800	Strong transcription	H1 Cell Line	embryonic stem cell

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