Variant report

Variant	rs2575200
Chromosome Location	chr6:80205856-80205857
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	chr6:80203346..80206046-chr6:80245933..80247472,2	K562	blood:

Variant related genes	Relation type
ENSG00000135338	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs12206063	0.84[ASN][1000 genomes]
rs1485363	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1485364	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1485365	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1827628	0.81[ASN][1000 genomes]
rs2220191	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2292109	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2575197	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2575201	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2575214	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2575215	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2575216	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2575217	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2575218	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2629468	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2655675	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2655676	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2655678	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2655687	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2655688	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2655693	0.82[ASN][1000 genomes]
rs2655694	0.82[ASN][1000 genomes]
rs2803174	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2803175	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2803186	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2803190	0.91[ASN][1000 genomes]
rs2803194	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2803203	0.82[ASN][1000 genomes]
rs2812698	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2814388	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs767789	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7753415	0.82[ASN][1000 genomes]
rs9352745	0.82[ASN][1000 genomes]
rs9448735	0.82[ASN][1000 genomes]
rs971806	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028607	chr6:79853272-80767716	Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv886301	chr6:80111104-80339088	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv886302	chr6:80111104-80355973	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1030126	chr6:80113449-80209165	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv1027388	chr6:80113449-80355973	ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv830707	chr6:80134625-80325171	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv1029259	chr6:80142754-80340332	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
8	nsv886303	chr6:80147225-80252423	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:80171200-80220000	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr6:80171600-80226600	Weak transcription	Brain Hippocampus Middle	brain
3	chr6:80178200-80212800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr6:80179600-80207400	Weak transcription	Ovary	ovary
5	chr6:80179800-80208600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr6:80179800-80217200	Weak transcription	Aorta	Aorta
7	chr6:80179800-80235000	Weak transcription	HSMMtube	muscle
8	chr6:80180400-80215400	Weak transcription	Fetal Lung	lung
9	chr6:80181400-80222000	Weak transcription	Left Ventricle	heart
10	chr6:80189600-80216600	Weak transcription	Fetal Brain Female	brain
11	chr6:80189600-80225200	Weak transcription	Stomach Smooth Muscle	stomach
12	chr6:80190200-80234400	Weak transcription	Fetal Intestine Large	intestine
13	chr6:80192400-80223200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr6:80192400-80226800	Weak transcription	Brain Anterior Caudate	brain
15	chr6:80194600-80217200	Weak transcription	Brain Germinal Matrix	brain
16	chr6:80194800-80225400	Weak transcription	Colon Smooth Muscle	Colon
17	chr6:80195400-80235000	Weak transcription	Fetal Muscle Leg	muscle
18	chr6:80195800-80218000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr6:80197200-80208000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr6:80197400-80224200	Weak transcription	Fetal Muscle Trunk	muscle
21	chr6:80197600-80220400	Weak transcription	Fetal Kidney	kidney
22	chr6:80198000-80221400	Weak transcription	HSMM	muscle
23	chr6:80198200-80217200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr6:80198400-80208600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr6:80198400-80235000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr6:80199000-80208600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr6:80199000-80235000	Weak transcription	Adipose Nuclei	Adipose
28	chr6:80200800-80210200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr6:80201000-80208600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr6:80204600-80207400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr6:80204800-80209000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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