Variant report

Variant	rs2005365
Chromosome Location	chr8:20231017-20231018
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:20089044..20089857-chr8:20230939..20231621,2	MCF-7	breast:
2	chr8:20080837..20081378-chr8:20230451..20231038,2	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1016646	1.00[AFR][1000 genomes]
rs10464996	1.00[AFR][1000 genomes]
rs12056831	1.00[AFR][1000 genomes]
rs17092434	1.00[AFR][1000 genomes]
rs17092733	1.00[AFR][1000 genomes]
rs17412582	1.00[AFR][1000 genomes]
rs17412734	1.00[AFR][1000 genomes]
rs17412740	1.00[AFR][1000 genomes]
rs17419795	1.00[AFR][1000 genomes]
rs17490805	1.00[AFR][1000 genomes]
rs17490847	1.00[AFR][1000 genomes]
rs17491153	1.00[AFR][1000 genomes]
rs2086886	1.00[AFR][1000 genomes]
rs35673104	1.00[AFR][1000 genomes]
rs4601325	1.00[AFR][1000 genomes]
rs4610764	1.00[AFR][1000 genomes]
rs4921708	1.00[AFR][1000 genomes]
rs4921713	1.00[AFR][1000 genomes]
rs4922161	1.00[AFR][1000 genomes]
rs4922175	1.00[AFR][1000 genomes]
rs4922177	1.00[AFR][1000 genomes]
rs4922178	1.00[AFR][1000 genomes]
rs4922179	1.00[AFR][1000 genomes]
rs4922180	1.00[AFR][1000 genomes]
rs4922181	1.00[AFR][1000 genomes]
rs4922182	1.00[AFR][1000 genomes]
rs4922183	1.00[AFR][1000 genomes]
rs4922187	1.00[AFR][1000 genomes]
rs4922189	1.00[AFR][1000 genomes]
rs4922200	1.00[AFR][1000 genomes]
rs4922210	1.00[AFR][1000 genomes]
rs56157706	1.00[AFR][1000 genomes]
rs56171374	1.00[AFR][1000 genomes]
rs6586910	1.00[AFR][1000 genomes]
rs6989281	1.00[AFR][1000 genomes]
rs6999584	1.00[AFR][1000 genomes]
rs6999736	1.00[AFR][1000 genomes]
rs7465534	1.00[AFR][1000 genomes]
rs7830125	1.00[AFR][1000 genomes]
rs950511	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033511	chr8:19751299-20625091	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv530877	chr8:19873053-20593254	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv831256	chr8:20162233-20300224	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	esv2758152	chr8:20228949-20514807	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv2759603	chr8:20228949-20514807	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:20227000-20231400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr8:20227000-20232800	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr8:20227200-20231400	Weak transcription	Fetal Brain Female	brain
4	chr8:20227200-20232000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr8:20227200-20232200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr8:20227200-20233000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr8:20227200-20233400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr8:20227200-20234000	Weak transcription	HSMMtube	muscle
9	chr8:20228800-20232200	Enhancers	Fetal Muscle Leg	muscle
10	chr8:20229600-20232400	Enhancers	Fetal Muscle Trunk	muscle
11	chr8:20230800-20231400	Enhancers	HSMM	muscle
12	chr8:20230800-20234200	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr8:20231000-20231200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr8:20231000-20231600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr8:20231000-20231600	Enhancers	Fetal Brain Male	brain
16	chr8:20231000-20232000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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