Variant report

Variant	rs62271506
Chromosome Location	chr3:134283179-134283180
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12636917	1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1498719	0.90[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1498721	0.87[ASN][1000 genomes]
rs1498722	0.87[ASN][1000 genomes]
rs2102006	0.90[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs62271507	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6804907	1.00[AMR][1000 genomes];0.96[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:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:134256600-134287200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr3:134269800-134286400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr3:134269800-134296600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr3:134270000-134286000	Weak transcription	Psoas Muscle	Psoas
5	chr3:134270600-134285200	Weak transcription	Brain Germinal Matrix	brain
6	chr3:134271200-134284800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr3:134271400-134286400	Weak transcription	Spleen	Spleen
8	chr3:134271400-134287800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr3:134272000-134289800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr3:134272200-134287200	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr3:134272600-134283200	Weak transcription	Colon Smooth Muscle	Colon
12	chr3:134272800-134283400	Weak transcription	HUVEC	blood vessel
13	chr3:134272800-134284400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr3:134272800-134284800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr3:134272800-134285000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr3:134273000-134285600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr3:134275200-134283400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr3:134276600-134283200	Strong transcription	Skeletal Muscle Female	skeletal muscle
19	chr3:134277200-134283400	Strong transcription	Fetal Muscle Leg	muscle
20	chr3:134277200-134283400	Strong transcription	Left Ventricle	heart
21	chr3:134277400-134283400	Strong transcription	Stomach Smooth Muscle	stomach
22	chr3:134278800-134286400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr3:134279400-134283600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr3:134279400-134283800	Weak transcription	Dnd41	blood
25	chr3:134279400-134284400	Strong transcription	Primary hematopoietic stem cells	blood
26	chr3:134279400-134284400	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr3:134279400-134284800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr3:134279400-134285200	Weak transcription	Esophagus	oesophagus
29	chr3:134279400-134285400	Weak transcription	GM12878-XiMat	blood
30	chr3:134279400-134287200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr3:134279400-134288600	Weak transcription	HSMMtube	muscle
32	chr3:134279600-134285800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr3:134279600-134286200	Weak transcription	Fetal Intestine Small	intestine
34	chr3:134280200-134283400	Strong transcription	Duodenum Smooth Muscle	Duodenum
35	chr3:134280400-134283400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr3:134280400-134285000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr3:134280600-134283200	Strong transcription	Primary B cells from cord blood	blood
38	chr3:134280600-134283400	Strong transcription	Aorta	Aorta
39	chr3:134280600-134283400	Strong transcription	Fetal Stomach	stomach
40	chr3:134280800-134283400	Strong transcription	Fetal Muscle Trunk	muscle
41	chr3:134280800-134283400	Strong transcription	Thymus	Thymus
42	chr3:134280800-134284400	Strong transcription	Primary T cells from cord blood	blood
43	chr3:134280800-134286800	Weak transcription	Brain Anterior Caudate	brain
44	chr3:134281000-134283400	Strong transcription	Brain Hippocampus Middle	brain
45	chr3:134281000-134284000	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr3:134281000-134285800	Weak transcription	Liver	Liver
47	chr3:134281000-134286200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr3:134281200-134283200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr3:134281200-134283400	Strong transcription	Brain Substantia Nigra	brain
50	chr3:134281200-134286400	Weak transcription	Fetal Kidney	kidney

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