Variant report

Variant	rs57031952
Chromosome Location	chr3:99869323-99869324
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1546032	1.00[AMR][1000 genomes]
rs35894064	1.00[AMR][1000 genomes]
rs72936565	1.00[EUR][1000 genomes]
rs72936575	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72936589	1.00[AMR][1000 genomes]
rs72936594	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72938947	1.00[AMR][1000 genomes]
rs72938983	1.00[AMR][1000 genomes]
rs72938993	1.00[AMR][1000 genomes]
rs9829705	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817478	chr3:99474086-99955548	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv916476	chr3:99478229-100124625	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	nsv869848	chr3:99652246-99904276	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
4	nsv932634	chr3:99660690-99888854	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1010579	chr3:99660754-99901817	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
6	nsv1008483	chr3:99660754-99903769	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
7	nsv1010897	chr3:99660754-99904783	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
8	nsv1001529	chr3:99661758-99892654	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
9	nsv536665	chr3:99661758-99892654	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
10	nsv591148	chr3:99774720-99905803	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:99856000-99877800	Weak transcription	Ovary	ovary
2	chr3:99858600-99877200	Weak transcription	HSMM	muscle
3	chr3:99859200-99870200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr3:99860200-99874000	Weak transcription	A549	lung
5	chr3:99861000-99870000	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr3:99861600-99870400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr3:99862200-99874200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr3:99862800-99870000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr3:99863400-99872200	Weak transcription	Primary B cells from peripheral blood	blood
10	chr3:99863400-99873800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr3:99863400-99874000	Weak transcription	NHEK	skin
12	chr3:99863600-99874000	Weak transcription	GM12878-XiMat	blood
13	chr3:99863800-99873000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr3:99863800-99873600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr3:99863800-99874000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr3:99864000-99873400	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr3:99864400-99886600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr3:99864600-99870800	Weak transcription	Primary hematopoietic stem cells	blood
19	chr3:99864600-99873600	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr3:99865000-99873400	Weak transcription	Fetal Intestine Small	intestine
21	chr3:99865000-99894600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr3:99865400-99873800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr3:99865600-99898400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr3:99866000-99874000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr3:99866400-99871200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr3:99866400-99874200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr3:99866600-99870000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr3:99866600-99870200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr3:99866600-99871400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr3:99866600-99872600	Strong transcription	Primary T cells from cord blood	blood
31	chr3:99866800-99870000	Weak transcription	Brain Anterior Caudate	brain
32	chr3:99867000-99870000	Weak transcription	HSMMtube	muscle
33	chr3:99867200-99874000	Weak transcription	K562	blood
34	chr3:99867400-99874000	Weak transcription	Brain Hippocampus Middle	brain
35	chr3:99867600-99874000	Weak transcription	Dnd41	blood
36	chr3:99868000-99870800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr3:99868000-99870800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr3:99868000-99871000	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr3:99868000-99897000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr3:99868200-99869600	Enhancers	NHLF	lung
41	chr3:99868200-99870800	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr3:99868200-99873200	Weak transcription	Duodenum Mucosa	Duodenum
43	chr3:99868400-99869600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr3:99868400-99869800	Enhancers	Adipose Nuclei	Adipose
45	chr3:99868400-99870200	Enhancers	NHDF-Ad	bronchial
46	chr3:99868400-99870400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr3:99868400-99874000	Weak transcription	HepG2	liver
48	chr3:99868600-99870200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr3:99868600-99870400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr3:99868800-99870200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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