Variant report

Variant	rs60070011
Chromosome Location	chr3:112957605-112957606
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1499898	1.00[ASN][1000 genomes]
rs16845106	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16860709	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16860720	1.00[ASN][1000 genomes]
rs16860770	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17320040	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17320242	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2399476	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34600669	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs41271353	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57104308	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59590258	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61035513	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9820139	0.95[ASN][1000 genomes]
rs9832953	0.93[ASN][1000 genomes]
rs9849714	1.00[ASN][1000 genomes]
rs9855011	1.00[ASN][1000 genomes]
rs9872998	0.95[ASN][1000 genomes]
rs9878424	0.95[ASN][1000 genomes]
rs998647	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs999365	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3431441	chr3:112453467-113213252	Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv829677	chr3:112857075-113038987	Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv1003511	chr3:112858775-112989045	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1013506	chr3:112890608-113680951	Weak transcription Bivalent/Poised TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
5	nsv877348	chr3:112914756-113012509	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112932000-112972800	Weak transcription	Aorta	Aorta
2	chr3:112943600-112960600	Weak transcription	Fetal Thymus	thymus
3	chr3:112951000-112958800	Weak transcription	Fetal Kidney	kidney
4	chr3:112951200-112958800	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr3:112951200-112959000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr3:112951200-112967000	Weak transcription	Colonic Mucosa	Colon
7	chr3:112951600-112960200	Weak transcription	NHLF	lung
8	chr3:112952400-112959000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr3:112953000-112959800	Weak transcription	Fetal Brain Female	brain
10	chr3:112953800-112958400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr3:112953800-112958400	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr3:112953800-112959000	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr3:112953800-112959600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr3:112953800-112959600	Weak transcription	Esophagus	oesophagus
15	chr3:112953800-112959600	Weak transcription	Fetal Brain Male	brain
16	chr3:112953800-112960600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr3:112953800-112965600	Weak transcription	Right Atrium	heart
18	chr3:112954000-112958200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr3:112954000-112958400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr3:112954000-112958400	Weak transcription	NHDF-Ad	bronchial
21	chr3:112954000-112959000	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr3:112954000-112959600	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr3:112954200-112958200	Weak transcription	Stomach Smooth Muscle	stomach
24	chr3:112954200-112958800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr3:112954200-112958800	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr3:112954200-112959000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr3:112954200-112959000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr3:112954200-112959600	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr3:112954200-112959600	Weak transcription	Osteobl	bone
30	chr3:112954200-112960400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr3:112954200-112965600	Weak transcription	Brain Substantia Nigra	brain
32	chr3:112954400-112958400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr3:112954400-112958800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr3:112954400-112959000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr3:112954400-112959600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr3:112954400-112959600	Weak transcription	Fetal Lung	lung
37	chr3:112954400-112960200	Weak transcription	HSMM	muscle
38	chr3:112954600-112957800	Weak transcription	Rectal Smooth Muscle	rectum
39	chr3:112954600-112958800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr3:112954600-112959000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr3:112954600-112959600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr3:112954600-112959600	Weak transcription	NHEK	skin
43	chr3:112954600-112959800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr3:112954600-112960400	Weak transcription	HSMMtube	muscle
45	chr3:112954800-112958200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr3:112956200-112958600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr3:112956400-112958400	Weak transcription	Psoas Muscle	Psoas
48	chr3:112956600-112958400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr3:112956800-112958200	Weak transcription	Fetal Muscle Trunk	muscle
50	chr3:112957200-112957800	Weak transcription	Cortex derived primary cultured neurospheres	brain

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