Variant report

Variant	rs7630259
Chromosome Location	chr3:51378548-51378549
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:51373593..51375810-chr3:51376800..51379121,2	K562	blood:
2	chr3:51373184..51375093-chr3:51377621..51380061,2	K562	blood:
3	chr3:51367010..51371078-chr3:51375773..51379297,4	MCF-7	breast:

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs17051747	0.95[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17051755	1.00[ASW][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55640023	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55699461	1.00[EUR][1000 genomes]
rs55708856	1.00[EUR][1000 genomes]
rs56037427	1.00[EUR][1000 genomes]
rs56254449	1.00[EUR][1000 genomes]
rs56361536	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56870664	1.00[EUR][1000 genomes]
rs56940802	1.00[EUR][1000 genomes]
rs57376071	1.00[EUR][1000 genomes]
rs57569631	0.93[AFR][1000 genomes]
rs57742040	1.00[EUR][1000 genomes]
rs58236908	1.00[EUR][1000 genomes]
rs58293845	1.00[EUR][1000 genomes]
rs58548979	1.00[EUR][1000 genomes]
rs59019902	1.00[EUR][1000 genomes]
rs59557845	1.00[EUR][1000 genomes]
rs59599274	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59652730	1.00[EUR][1000 genomes]
rs59794491	1.00[EUR][1000 genomes]
rs60166061	1.00[EUR][1000 genomes]
rs60862896	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60973580	1.00[EUR][1000 genomes]
rs61174735	1.00[EUR][1000 genomes]
rs61337570	1.00[EUR][1000 genomes]
rs61526358	1.00[EUR][1000 genomes]
rs61570923	1.00[EUR][1000 genomes]
rs6781959	1.00[EUR][1000 genomes]
rs6799213	1.00[EUR][1000 genomes]
rs6804101	1.00[EUR][1000 genomes]
rs73833980	1.00[EUR][1000 genomes]
rs73833981	1.00[EUR][1000 genomes]
rs73833982	1.00[EUR][1000 genomes]
rs73833985	1.00[EUR][1000 genomes]
rs73833986	1.00[EUR][1000 genomes]
rs73833987	1.00[EUR][1000 genomes]
rs73833989	1.00[EUR][1000 genomes]
rs73833990	1.00[EUR][1000 genomes]
rs73833991	1.00[EUR][1000 genomes]
rs73833992	1.00[EUR][1000 genomes]
rs73833993	1.00[EUR][1000 genomes]
rs73833996	1.00[EUR][1000 genomes]
rs73834257	1.00[EUR][1000 genomes]
rs73837406	1.00[EUR][1000 genomes]
rs73837420	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73837421	1.00[EUR][1000 genomes]
rs73837422	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73837423	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73837425	1.00[EUR][1000 genomes]
rs73837428	1.00[EUR][1000 genomes]
rs73837431	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73837432	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73837433	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73837434	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7635095	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7642077	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9990213	0.82[ASW][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

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	nsv1005858	chr3:51090373-51444027	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv536569	chr3:51090373-51444027	Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv1014464	chr3:51220151-51909780	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
4	esv20206	chr3:51344873-51415825	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:51369600-51383800	Weak transcription	Fetal Brain Male	brain
2	chr3:51375600-51379000	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr3:51376600-51378800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr3:51376600-51379400	Enhancers	NHLF	lung
5	chr3:51376800-51378800	Enhancers	Aorta	Aorta
6	chr3:51376800-51379200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr3:51376800-51391800	Weak transcription	Brain Germinal Matrix	brain
8	chr3:51376800-51392400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr3:51377000-51378600	Enhancers	Adipose Nuclei	Adipose
10	chr3:51377000-51378600	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr3:51377000-51379400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr3:51377200-51378600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr3:51377200-51378600	Genic enhancers	Brain Hippocampus Middle	brain
14	chr3:51377200-51378800	Flanking Active TSS	A549	lung
15	chr3:51377400-51378600	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr3:51377400-51378600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr3:51377400-51378600	Enhancers	Ovary	ovary
18	chr3:51377400-51378800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr3:51377400-51378800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr3:51377400-51378800	Enhancers	Stomach Mucosa	stomach
21	chr3:51377400-51379000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr3:51377400-51379000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr3:51377400-51379000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr3:51377400-51379200	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr3:51377400-51379400	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr3:51377400-51380000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr3:51377600-51378600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr3:51377600-51378600	Enhancers	Fetal Stomach	stomach
29	chr3:51377600-51378600	Enhancers	Placenta Amnion	Placenta Amnion
30	chr3:51377600-51378800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
31	chr3:51377600-51378800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr3:51377600-51378800	Enhancers	Brain Angular Gyrus	brain
33	chr3:51377600-51378800	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr3:51377600-51378800	Enhancers	Duodenum Smooth Muscle	Duodenum
35	chr3:51377600-51378800	Enhancers	Esophagus	oesophagus
36	chr3:51377600-51378800	Enhancers	Fetal Muscle Leg	muscle
37	chr3:51377600-51378800	Enhancers	Rectal Smooth Muscle	rectum
38	chr3:51377600-51378800	Enhancers	Right Atrium	heart
39	chr3:51377600-51378800	Enhancers	Right Ventricle	heart
40	chr3:51377600-51378800	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr3:51377600-51378800	Flanking Active TSS	Hela-S3	cervix
42	chr3:51377600-51379000	Enhancers	Brain Anterior Caudate	brain
43	chr3:51377600-51379000	Enhancers	Left Ventricle	heart
44	chr3:51377600-51379200	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr3:51377800-51378600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr3:51377800-51378800	Enhancers	Colonic Mucosa	Colon
47	chr3:51377800-51378800	Enhancers	Stomach Smooth Muscle	stomach
48	chr3:51377800-51379000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr3:51377800-51379000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr3:51377800-51379000	Enhancers	H9 Cell Line	embryonic stem cell

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