Variant report

Variant	rs10517219
Chromosome Location	chr4:30824065-30824066
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:30821360..30824099-chr4:30824392..30825995,2	MCF-7	breast:

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10006361	0.80[CEU][hapmap];0.96[CHB][hapmap];0.91[JPT][hapmap];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10008728	0.81[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs10021424	0.81[ASN][1000 genomes]
rs10024115	0.95[CHB][hapmap];0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs10939312	0.82[ASN][1000 genomes]
rs12331633	0.82[CEU][hapmap];0.91[CHB][hapmap];0.81[JPT][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13108018	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13138590	1.00[YRI][hapmap]
rs1348921	0.95[CHB][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs1374658	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1447360	1.00[CEU][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1447364	0.91[CHB][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs1486787	0.95[CHB][hapmap];0.91[JPT][hapmap]
rs2871476	1.00[YRI][hapmap]
rs28716204	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35428738	0.82[ASN][1000 genomes]
rs3775331	1.00[YRI][hapmap]
rs4235010	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4358358	1.00[YRI][hapmap]
rs4361347	1.00[YRI][hapmap]
rs4368569	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4380480	0.91[CHB][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs4466008	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4487300	1.00[YRI][hapmap]
rs4493494	0.81[AMR][1000 genomes]
rs4498103	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4504214	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4505780	0.91[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs4557224	0.85[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4585258	1.00[YRI][hapmap]
rs4611883	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4613528	0.83[ASN][1000 genomes]
rs4615135	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4619848	0.82[CEU][hapmap];0.91[CHB][hapmap];0.81[JPT][hapmap];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4692105	0.91[CHB][hapmap];0.85[JPT][hapmap]
rs4692490	1.00[YRI][hapmap]
rs4995324	0.88[ASN][1000 genomes]
rs6448723	0.95[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs6812005	0.85[CEU][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6815007	0.96[CHB][hapmap];0.91[JPT][hapmap]
rs6822350	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6827723	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6828872	0.91[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs6832173	0.83[ASN][1000 genomes]
rs6847642	1.00[YRI][hapmap]
rs6855232	0.83[ASN][1000 genomes]
rs6855570	0.83[ASN][1000 genomes]
rs6856144	0.89[CHB][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs6858230	0.82[ASN][1000 genomes]
rs7654583	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7664926	0.83[ASN][1000 genomes]
rs7670155	0.96[CHB][hapmap];0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs7678055	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7685283	0.85[ASN][1000 genomes]
rs7692210	0.90[CHB][hapmap];0.80[JPT][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7695488	0.96[CHB][hapmap];0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs9291549	0.91[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs9291553	1.00[CEU][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9685207	1.00[YRI][hapmap]
rs9997529	1.00[YRI][hapmap]
rs9999290	0.96[CHB][hapmap];0.91[JPT][hapmap];0.84[ASN][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	nsv4285	chr4:30815642-30838784	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv499039	chr4:30819213-30830142	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv878810	chr4:30823157-30987395	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv998450	chr4:30823631-31628179	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:30813800-30835800	Weak transcription	Colon Smooth Muscle	Colon
2	chr4:30820400-30824600	Weak transcription	Aorta	Aorta
3	chr4:30822800-30824400	Enhancers	Fetal Heart	heart
4	chr4:30823000-30824200	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr4:30823000-30824200	Enhancers	HSMMtube	muscle
6	chr4:30823000-30825000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr4:30823200-30824200	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr4:30823200-30824200	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr4:30823200-30825200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr4:30823400-30824200	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr4:30823400-30824200	Enhancers	NHEK	skin
12	chr4:30823600-30824200	Enhancers	H1 Cell Line	embryonic stem cell
13	chr4:30823600-30824200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr4:30823600-30824200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr4:30823600-30824200	Active TSS	Stomach Smooth Muscle	stomach
16	chr4:30823800-30824200	Flanking Active TSS	Hela-S3	cervix
17	chr4:30823800-30824200	Flanking Active TSS	HSMM	muscle
18	chr4:30823800-30826600	Weak transcription	HUVEC	blood vessel
19	chr4:30823800-30827000	Weak transcription	Fetal Muscle Leg	muscle
20	chr4:30824000-30824200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr4:30824000-30824200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr4:30824000-30824200	Enhancers	NH-A	brain
23	chr4:30824000-30824800	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr4:30824000-30825000	Weak transcription	Right Ventricle	heart

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