Variant report

Variant	rs7576406
Chromosome Location	chr2:134512873-134512874
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10496711	0.81[ASN][1000 genomes]
rs10928459	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1110671	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11903316	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12473486	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12989443	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12998715	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1374407	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1446740	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1446741	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1446742	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1446744	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1869052	0.82[ASN][1000 genomes]
rs1900350	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2123086	0.82[ASN][1000 genomes]
rs2167529	0.82[ASN][1000 genomes]
rs2874460	0.82[ASN][1000 genomes]
rs41455444	0.81[ASN][1000 genomes]
rs4386376	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4425130	0.84[ASN][1000 genomes]
rs4533517	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4589812	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57021484	0.80[ASN][1000 genomes]
rs6414016	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6430444	0.82[ASN][1000 genomes]
rs6430450	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6430451	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6731434	0.82[ASN][1000 genomes]
rs6760899	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[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	nsv1003624	chr2:134126928-134583203	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1006101	chr2:134263288-134973917	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer 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	14 gene(s)	inside rSNPs	diseases
3	nsv1013713	chr2:134322236-134644574	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv535931	chr2:134322236-134644574	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv963883	chr2:134508919-134516201	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:134508800-134513200	Weak transcription	Fetal Brain Female	brain
2	chr2:134510600-134514200	Enhancers	Fetal Heart	heart
3	chr2:134512400-134514200	Enhancers	Osteobl	bone
4	chr2:134512400-134514600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr2:134512600-134513400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr2:134512600-134514200	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr2:134512800-134513000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:134512800-134513000	Enhancers	Esophagus	oesophagus
9	chr2:134512800-134513000	Enhancers	Fetal Brain Male	brain
10	chr2:134512800-134513000	Enhancers	Left Ventricle	heart
11	chr2:134512800-134513000	Enhancers	Right Ventricle	heart
12	chr2:134512800-134513000	Enhancers	Small Intestine	intestine
13	chr2:134512800-134513000	Enhancers	NHLF	lung
14	chr2:134512800-134513400	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr2:134512800-134513600	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr2:134512800-134513600	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr2:134512800-134513600	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr2:134512800-134513600	Enhancers	Stomach Smooth Muscle	stomach
19	chr2:134512800-134514000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr2:134512800-134514000	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr2:134512800-134514000	Enhancers	Adipose Nuclei	Adipose
22	chr2:134512800-134514000	Enhancers	Rectal Smooth Muscle	rectum
23	chr2:134512800-134514000	Enhancers	NH-A	brain
24	chr2:134512800-134514200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr2:134512800-134514200	Enhancers	Muscle Satellite Cultured Cells	--
26	chr2:134512800-134514200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr2:134512800-134514200	Enhancers	Colon Smooth Muscle	Colon
28	chr2:134512800-134514200	Enhancers	Fetal Stomach	stomach
29	chr2:134512800-134514200	Enhancers	Lung	lung
30	chr2:134512800-134514200	Enhancers	Ovary	ovary
31	chr2:134512800-134514200	Enhancers	Right Atrium	heart
32	chr2:134512800-134514200	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr2:134512800-134514200	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr2:134512800-134514200	Enhancers	NHDF-Ad	bronchial
35	chr2:134512800-134514400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr2:134512800-134514400	Enhancers	Fetal Lung	lung
37	chr2:134512800-134514400	Enhancers	Fetal Muscle Leg	muscle
38	chr2:134512800-134514800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr2:134512800-134514800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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