Variant report

Variant	rs6468812
Chromosome Location	chr8:103053610-103053611
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	chr8:103053043..103055176-chr8:103059742..103061344,2	MCF-7	breast:
2	chr8:103045659..103047816-chr8:103052482..103055042,2	MCF-7	breast:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10098918	0.85[JPT][hapmap]
rs10113490	0.96[AFR][1000 genomes]
rs10113810	0.84[YRI][hapmap]
rs1111908	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs1111909	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1111910	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs11780799	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12334499	0.89[JPT][hapmap]
rs16868941	0.89[JPT][hapmap]
rs17499067	0.89[JPT][hapmap]
rs1893532	0.86[AFR][1000 genomes]
rs1893533	0.96[YRI][hapmap];0.86[AFR][1000 genomes]
rs1893534	0.89[JPT][hapmap]
rs2032151	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2186680	0.88[JPT][hapmap]
rs28478554	0.92[ASN][1000 genomes]
rs56281612	0.89[ASN][1000 genomes]
rs61093256	0.91[ASN][1000 genomes]
rs6468810	0.96[AFR][1000 genomes]
rs6984801	1.00[YRI][hapmap];0.97[AFR][1000 genomes]
rs6987069	0.89[AFR][1000 genomes]
rs7001158	0.89[JPT][hapmap]
rs7001757	0.96[YRI][hapmap];0.88[AFR][1000 genomes]
rs7001888	0.97[YRI][hapmap];0.86[AFR][1000 genomes]
rs7002154	0.97[YRI][hapmap];0.86[AFR][1000 genomes]
rs7007251	0.93[YRI][hapmap];0.82[AFR][1000 genomes]
rs7014685	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7017181	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7831664	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs9886663	0.89[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831411	chr8:102937991-103108140	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv891231	chr8:103001914-103076379	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv891232	chr8:103001914-103138045	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
4	nsv891233	chr8:103001914-103162638	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
5	nsv891234	chr8:103020391-103113701	Flanking Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv891235	chr8:103032394-103162638	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
7	nsv891236	chr8:103039917-103070301	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv891237	chr8:103039917-103113701	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv8371	chr8:103052994-103057279	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103047200-103054000	Weak transcription	Fetal Muscle Trunk	muscle
2	chr8:103047800-103053800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr8:103050600-103053800	Weak transcription	Fetal Kidney	kidney
4	chr8:103050800-103054400	Weak transcription	Lung	lung
5	chr8:103050800-103054600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr8:103051000-103053800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr8:103051200-103054000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr8:103051400-103054600	Weak transcription	Right Ventricle	heart
9	chr8:103051400-103056200	Weak transcription	Adipose Nuclei	Adipose
10	chr8:103051400-103056600	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr8:103051600-103055800	Weak transcription	Fetal Brain Male	brain
12	chr8:103051600-103064600	Weak transcription	Fetal Muscle Leg	muscle
13	chr8:103051800-103053800	Enhancers	Aorta	Aorta
14	chr8:103053000-103055000	Enhancers	Right Atrium	heart
15	chr8:103053400-103053800	Enhancers	Psoas Muscle	Psoas
16	chr8:103053400-103054200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr8:103053600-103053800	Enhancers	Small Intestine	intestine
18	chr8:103053600-103054000	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr8:103053600-103054200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr8:103053600-103054200	Enhancers	Fetal Heart	heart
21	chr8:103053600-103054400	Enhancers	Stomach Smooth Muscle	stomach
22	chr8:103053600-103055000	Enhancers	Left Ventricle	heart
23	chr8:103053600-103057600	Enhancers	Ovary	ovary

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