Variant report

Variant	rs12511591
Chromosome Location	chr4:8497162-8497163
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:8495654..8498484-chr4:8534530..8537327,2	MCF-7	breast:
2	chr4:8493970..8498267-chr4:8498833..8501951,5	K562	blood:

Extended variants
information (count: 123 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:120)

rs_ID	r²[population]
rs10003554	1.00[ASN][1000 genomes]
rs10516192	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11933361	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11938744	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12108233	0.89[EUR][1000 genomes]
rs12108264	0.89[EUR][1000 genomes]
rs12108299	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12498220	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs12498652	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12498856	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12499366	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12500106	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12500186	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12500188	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12501889	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12503080	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12504157	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12504328	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12504709	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12504813	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12506061	1.00[ASN][1000 genomes]
rs12506272	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12506429	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12506703	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12509044	1.00[ASN][1000 genomes]
rs12509545	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12511417	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12512006	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12512044	1.00[ASN][1000 genomes]
rs12513048	1.00[ASN][1000 genomes]
rs12513296	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16842284	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16842305	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16842315	0.82[YRI][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16842316	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16842333	1.00[CHB][hapmap]
rs16842337	0.89[AFR][1000 genomes]
rs16842423	0.82[AFR][1000 genomes]
rs2386224	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2386225	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs34873641	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41264711	1.00[ASN][1000 genomes]
rs55856487	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57229672	1.00[ASN][1000 genomes]
rs59670959	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59872851	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62286004	1.00[ASN][1000 genomes]
rs6447869	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs66675498	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66794792	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67332046	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67496006	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67901119	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6813671	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6814866	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6816060	0.93[AFR][1000 genomes]
rs6816094	0.93[AFR][1000 genomes]
rs6817579	0.83[AFR][1000 genomes]
rs6830523	1.00[CHB][hapmap]
rs6846116	0.89[AFR][1000 genomes]
rs6849528	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6855235	1.00[CHB][hapmap]
rs73209462	1.00[ASN][1000 genomes]
rs73209465	1.00[ASN][1000 genomes]
rs73209470	1.00[ASN][1000 genomes]
rs73209473	1.00[ASN][1000 genomes]
rs73209478	1.00[ASN][1000 genomes]
rs73209480	1.00[ASN][1000 genomes]
rs73209481	1.00[ASN][1000 genomes]
rs73209488	1.00[ASN][1000 genomes]
rs73209489	1.00[ASN][1000 genomes]
rs73209502	1.00[ASN][1000 genomes]
rs73211306	1.00[ASN][1000 genomes]
rs73211309	1.00[ASN][1000 genomes]
rs73211315	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73211334	1.00[ASN][1000 genomes]
rs73211338	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73211340	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73211347	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73211351	0.89[EUR][1000 genomes]
rs73211354	0.89[EUR][1000 genomes]
rs73211357	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73211359	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73211365	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73211366	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73211368	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73211373	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73211375	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73211378	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73211381	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73211383	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73211388	1.00[EUR][1000 genomes]
rs73211394	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73211401	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73213403	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73213404	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73213405	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73213406	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73213408	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73213409	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73213410	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73213413	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73213414	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73213420	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73213426	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73223242	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73223246	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73223250	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73223256	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73223257	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73223259	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73223263	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73223264	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73223266	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73223271	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73223275	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73223282	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73223294	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7686550	1.00[ASN][1000 genomes]
rs9761200	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv878604	chr4:8315938-8618916	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1002680	chr4:8357163-8721214	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv829854	chr4:8402921-8506407	Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8473600-8501400	Weak transcription	Brain Substantia Nigra	brain
2	chr4:8478000-8500200	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr4:8479200-8501400	Weak transcription	Liver	Liver
4	chr4:8480200-8498400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr4:8480200-8501400	Weak transcription	Brain Hippocampus Middle	brain
6	chr4:8480600-8498200	Weak transcription	Stomach Smooth Muscle	stomach
7	chr4:8480800-8497400	Weak transcription	Spleen	Spleen
8	chr4:8481400-8501400	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr4:8481800-8497400	Weak transcription	Fetal Muscle Leg	muscle
10	chr4:8482200-8501400	Weak transcription	Primary T cells from cord blood	blood
11	chr4:8491000-8497600	Weak transcription	Ovary	ovary
12	chr4:8491000-8501400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr4:8491000-8505200	Weak transcription	Fetal Brain Female	brain
14	chr4:8492000-8498800	Weak transcription	Fetal Stomach	stomach
15	chr4:8492000-8499600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr4:8495800-8501400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr4:8496000-8499400	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr4:8496200-8501400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr4:8496400-8501200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr4:8496600-8497600	ZNF genes & repeats	Lung	lung
21	chr4:8496800-8497200	Strong transcription	Skeletal Muscle Male	skeletal muscle
22	chr4:8496800-8498200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr4:8496800-8499400	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr4:8497000-8497400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr4:8497000-8497400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr4:8497000-8498400	Enhancers	Placenta	Placenta
27	chr4:8497000-8504200	Weak transcription	Right Atrium	heart

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