Variant report

Variant	rs6106614
Chromosome Location	chr20:23160502-23160503
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:23159717..23162468-chr20:23166819..23168990,2	MCF-7	breast:
2	chr20:23009895..23012864-chr20:23158495..23160827,2	K562	blood:
3	chr20:23159913..23161586-chr20:23172008..23174904,2	K562	blood:
4	chr20:23133916..23136553-chr20:23158776..23161352,2	K562	blood:
5	chr20:23105413..23107552-chr20:23159018..23161237,2	K562	blood:

Variant related genes	Relation type
ENSG00000234646	Chromatin interaction
ENSG00000230492	Chromatin interaction
ENSG00000230387	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs16985100	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs41282286	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6106612	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6114005	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61228829	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62206881	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs869449	1.00[EUR][1000 genomes];0.96[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	esv2758516	chr20:23029404-23173240	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	esv2758789	chr20:23029404-23179604	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv912817	chr20:23127661-23240969	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	esv2756735	chr20:23146607-23179604	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23158600-23160600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr20:23158600-23161400	Enhancers	Spleen	Spleen
3	chr20:23158600-23161800	Enhancers	Skeletal Muscle Male	skeletal muscle
4	chr20:23158600-23161800	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr20:23158600-23161800	Enhancers	K562	blood
6	chr20:23158800-23161800	Enhancers	HUVEC	blood vessel
7	chr20:23159000-23162000	Enhancers	Placenta	Placenta
8	chr20:23159200-23160600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr20:23159200-23160600	Weak transcription	Left Ventricle	heart
10	chr20:23159200-23160600	Weak transcription	Ovary	ovary
11	chr20:23159200-23161200	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr20:23159400-23160600	Weak transcription	Fetal Muscle Leg	muscle
13	chr20:23159400-23160600	Weak transcription	Lung	lung
14	chr20:23159400-23161200	Weak transcription	Stomach Smooth Muscle	stomach
15	chr20:23159600-23160800	Weak transcription	Right Atrium	heart
16	chr20:23159600-23161000	Weak transcription	Adipose Nuclei	Adipose
17	chr20:23159600-23162000	Enhancers	Dnd41	blood
18	chr20:23159800-23160600	Weak transcription	Right Ventricle	heart
19	chr20:23159800-23161000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr20:23160000-23161000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr20:23160000-23161000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr20:23160000-23161200	Weak transcription	Psoas Muscle	Psoas
23	chr20:23160200-23160600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr20:23160400-23160800	Enhancers	Duodenum Mucosa	Duodenum
25	chr20:23160400-23161800	Enhancers	Fetal Muscle Trunk	muscle

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