Variant report

Variant	rs4311254
Chromosome Location	chr3:134326148-134326149
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs4455359	1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4955512	1.00[ASN][1000 genomes]
rs7610168	1.00[JPT][hapmap]
rs7642559	1.00[JPT][hapmap]
rs7648167	1.00[JPT][hapmap]
rs7651420	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877510	chr3:134126150-134400448	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv877511	chr3:134174071-134358947	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv877512	chr3:134174071-134372486	Enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv877513	chr3:134174071-134379752	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv877514	chr3:134191938-134372486	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	nsv829730	chr3:134199097-134359544	Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS 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 target site	28 gene(s)	inside rSNPs	diseases
7	nsv1002382	chr3:134239191-134358001	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:134319600-134334600	Weak transcription	Aorta	Aorta
2	chr3:134319800-134353800	Weak transcription	Left Ventricle	heart
3	chr3:134320400-134338000	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr3:134321200-134335200	Weak transcription	Ovary	ovary
5	chr3:134321400-134327800	Weak transcription	Brain Angular Gyrus	brain
6	chr3:134321600-134326200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr3:134321600-134326400	Weak transcription	Fetal Intestine Small	intestine
8	chr3:134321600-134329200	Weak transcription	Fetal Lung	lung
9	chr3:134321600-134336800	Weak transcription	Brain Anterior Caudate	brain
10	chr3:134321600-134349200	Weak transcription	Brain Substantia Nigra	brain
11	chr3:134321800-134328400	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr3:134321800-134337400	Weak transcription	Brain Cingulate Gyrus	brain
13	chr3:134321800-134337800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr3:134322000-134328800	Weak transcription	Brain Hippocampus Middle	brain
15	chr3:134322200-134331200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr3:134322600-134331200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr3:134323200-134326200	Weak transcription	Gastric	stomach
18	chr3:134324000-134327400	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr3:134324200-134326600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
20	chr3:134324400-134326200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
21	chr3:134324400-134327000	Enhancers	Primary hematopoietic stem cells	blood
22	chr3:134324800-134326400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr3:134324800-134329600	Weak transcription	Right Ventricle	heart
24	chr3:134324800-134333200	Genic enhancers	Skeletal Muscle Female	skeletal muscle
25	chr3:134325000-134327000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
26	chr3:134325200-134326400	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr3:134325200-134326600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr3:134325200-134327000	Genic enhancers	Skeletal Muscle Male	skeletal muscle
29	chr3:134325200-134330400	Genic enhancers	Fetal Muscle Trunk	muscle
30	chr3:134325200-134331400	Genic enhancers	Fetal Muscle Leg	muscle
31	chr3:134325400-134326400	Enhancers	Adipose Nuclei	Adipose
32	chr3:134325400-134326800	Enhancers	Psoas Muscle	Psoas
33	chr3:134325400-134327000	Enhancers	Lung	lung
34	chr3:134325600-134326200	Enhancers	Liver	Liver
35	chr3:134325600-134329600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr3:134325600-134332200	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr3:134325800-134326400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr3:134326000-134326200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr3:134326000-134326200	Flanking Active TSS	Spleen	Spleen
40	chr3:134326000-134326800	Enhancers	Stomach Smooth Muscle	stomach
41	chr3:134326000-134329000	Weak transcription	Fetal Heart	heart
42	chr3:134326000-134364800	Weak transcription	Osteobl	bone

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