Variant report

Variant	rs630987
Chromosome Location	chr3:54697023-54697024
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11718583	1.00[CEU][hapmap]
rs11718786	1.00[CEU][hapmap]
rs1820616	1.00[CEU][hapmap]
rs1882321	1.00[CEU][hapmap]
rs1965072	0.87[ASN][1000 genomes]
rs1965073	0.86[ASN][1000 genomes]
rs488451	0.89[ASN][1000 genomes]
rs492885	0.89[ASN][1000 genomes]
rs510605	0.83[YRI][hapmap];0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs525736	1.00[CEU][hapmap];0.84[ASN][1000 genomes]
rs529098	0.81[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs530868	0.94[ASN][1000 genomes]
rs533524	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs535526	1.00[CEU][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs543828	0.83[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs550728	0.83[ASN][1000 genomes]
rs562668	0.86[YRI][hapmap];0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs566884	0.81[ASN][1000 genomes]
rs568051	1.00[CEU][hapmap];0.82[ASN][1000 genomes]
rs588784	1.00[CEU][hapmap];0.85[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs593629	0.82[ASN][1000 genomes]
rs596992	0.92[ASN][1000 genomes]
rs599573	1.00[CEU][hapmap];0.85[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs601383	1.00[CEU][hapmap];0.85[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs601420	1.00[CEU][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs608142	1.00[CEU][hapmap];0.84[ASN][1000 genomes]
rs622326	0.94[ASN][1000 genomes]
rs623696	0.92[ASN][1000 genomes]
rs646220	0.81[ASN][1000 genomes]
rs647480	1.00[CEU][hapmap]
rs666071	1.00[CEU][hapmap];0.82[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7633762	1.00[CEU][hapmap]
rs838017	1.00[CEU][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9882650	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014595	chr3:53944473-54846754	Enhancers Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv428084	chr3:54404258-54742756	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv834700	chr3:54637374-54803896	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv525644	chr3:54653316-54709987	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:54685200-54704000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr3:54689200-54697200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr3:54691400-54704000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr3:54693400-54697800	Weak transcription	Right Atrium	heart
5	chr3:54693400-54702400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr3:54693600-54699200	Enhancers	Fetal Muscle Leg	muscle
7	chr3:54694000-54702200	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr3:54694000-54702400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr3:54694000-54702600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr3:54694000-54702800	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr3:54694800-54697200	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr3:54695200-54697200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr3:54695200-54697800	Weak transcription	Psoas Muscle	Psoas
14	chr3:54695200-54703200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr3:54695400-54697600	Weak transcription	Rectal Smooth Muscle	rectum
16	chr3:54695400-54697600	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr3:54695400-54697800	Weak transcription	Spleen	Spleen
18	chr3:54695400-54698200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr3:54695400-54703800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr3:54695600-54697800	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr3:54695600-54702200	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr3:54695600-54704000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr3:54696400-54697600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr3:54696400-54698200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr3:54696600-54698400	Enhancers	Esophagus	oesophagus
26	chr3:54696800-54702400	Weak transcription	Fetal Stomach	stomach
27	chr3:54697000-54697400	Weak transcription	Fetal Muscle Trunk	muscle
28	chr3:54697000-54698400	Enhancers	NHDF-Ad	bronchial

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