Variant report

Variant	rs56982991
Chromosome Location	chr3:93762735-93762736
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12492553	0.91[EUR][1000 genomes]
rs2965	0.87[EUR][1000 genomes]
rs34309901	0.92[EUR][1000 genomes]
rs34411239	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35793773	0.92[EUR][1000 genomes]
rs35815512	0.92[EUR][1000 genomes]
rs4857146	0.91[EUR][1000 genomes]
rs4857186	0.81[EUR][1000 genomes]
rs6765621	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6777479	0.91[EUR][1000 genomes]
rs6791811	0.91[EUR][1000 genomes]
rs7633544	0.87[EUR][1000 genomes]
rs7653521	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9844676	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9872376	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869241	chr3:93527675-94504491	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv998173	chr3:93575084-94427403	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv536644	chr3:93575084-94427403	Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1008711	chr3:93575284-94427264	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv536646	chr3:93575284-94427264	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv491829	chr3:93575285-94427263	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	esv1795060	chr3:93602038-93848525	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	n/a
8	esv1791740	chr3:93602927-93849247	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS 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 target site	18 gene(s)	inside rSNPs	n/a
9	esv2755326	chr3:93605126-93882750	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	n/a
10	nsv1013107	chr3:93654100-94102212	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
11	nsv536648	chr3:93654100-94102212	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
12	nsv1004176	chr3:93654100-94502551	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
13	nsv590987	chr3:93708820-93779664	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:93708400-93780800	Weak transcription	K562	blood
2	chr3:93717000-93763000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr3:93721200-93763200	Weak transcription	Left Ventricle	heart
4	chr3:93723600-93780800	Weak transcription	Fetal Lung	lung
5	chr3:93723600-93780800	Weak transcription	HSMMtube	muscle
6	chr3:93726200-93780800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr3:93740600-93780800	Weak transcription	NHDF-Ad	bronchial
8	chr3:93743600-93769000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr3:93743600-93780800	Weak transcription	Aorta	Aorta
10	chr3:93743800-93769600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr3:93744000-93763000	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr3:93747600-93762800	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr3:93747800-93762800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr3:93748800-93777600	Weak transcription	A549	lung
15	chr3:93751000-93780600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr3:93751400-93763200	Weak transcription	Gastric	stomach
17	chr3:93753200-93778000	Weak transcription	Stomach Smooth Muscle	stomach
18	chr3:93753800-93780800	Weak transcription	HUVEC	blood vessel
19	chr3:93754200-93763200	Weak transcription	Ovary	ovary
20	chr3:93754200-93763400	Weak transcription	Brain Hippocampus Middle	brain
21	chr3:93754200-93781000	Weak transcription	Small Intestine	intestine
22	chr3:93754400-93780800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr3:93754800-93763000	Weak transcription	Right Ventricle	heart
24	chr3:93754800-93763200	Weak transcription	Fetal Muscle Trunk	muscle
25	chr3:93755000-93763000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr3:93755800-93780800	Weak transcription	Primary B cells from cord blood	blood
27	chr3:93756200-93763000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr3:93756200-93778800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr3:93756200-93780600	Weak transcription	GM12878-XiMat	blood
30	chr3:93756200-93780800	Weak transcription	Brain Cingulate Gyrus	brain
31	chr3:93756200-93780800	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr3:93756200-93780800	Weak transcription	NHEK	skin
33	chr3:93756200-93780800	Weak transcription	Osteobl	bone
34	chr3:93756600-93778600	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr3:93756600-93780800	Weak transcription	Colon Smooth Muscle	Colon
36	chr3:93757000-93780800	Weak transcription	HMEC	breast
37	chr3:93757400-93763200	Weak transcription	Fetal Brain Female	brain
38	chr3:93758200-93763000	Weak transcription	Thymus	Thymus
39	chr3:93759600-93773000	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr3:93760400-93764600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
41	chr3:93760800-93777400	Weak transcription	Primary T cells from cord blood	blood
42	chr3:93761000-93764800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr3:93761200-93764600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
44	chr3:93761400-93762800	Weak transcription	Spleen	Spleen
45	chr3:93761400-93763000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr3:93761400-93763200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr3:93761400-93780800	Weak transcription	Brain Anterior Caudate	brain
48	chr3:93761600-93762800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr3:93761600-93764200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
50	chr3:93761600-93764400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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