Variant report

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:34830057..34832042-chr11:34848126..34850634,2	K562	blood:
2	chr11:34831422..34835034-chr11:34838233..34841793,4	K562	blood:
3	chr11:34631109..34633523-chr11:34830130..34832941,2	K562	blood:
4	chr11:34830393..34833642-chr11:34837362..34839934,3	K562	blood:
5	chr11:34819205..34826551-chr11:34829823..34835499,8	K562	blood:
6	chr11:34831080..34832844-chr11:34868501..34870661,2	K562	blood:
7	chr11:34828929..34832909-chr11:34833620..34837580,5	K562	blood:
8	chr11:34828810..34832933-chr11:34843194..34845330,4	K562	blood:

No data

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

rs_ID	r²[population]
rs10742324	0.82[ASN][1000 genomes]
rs10768101	0.85[ASN][1000 genomes]
rs1396884	0.85[ASN][1000 genomes]
rs1605879	0.85[ASN][1000 genomes]
rs1813690	0.85[ASN][1000 genomes]
rs474636	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs484717	0.82[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs485845	0.81[AFR][1000 genomes]
rs486710	0.82[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs490410	0.97[ASN][1000 genomes]
rs494170	0.97[ASN][1000 genomes]
rs497837	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs504186	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs506444	0.88[ASN][1000 genomes]
rs508324	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs508536	0.97[ASN][1000 genomes]
rs513051	0.94[ASN][1000 genomes]
rs514220	0.97[ASN][1000 genomes]
rs515987	0.85[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs522585	0.97[ASN][1000 genomes]
rs535054	0.97[ASN][1000 genomes]
rs535744	0.97[ASN][1000 genomes]
rs542156	0.97[ASN][1000 genomes]
rs550313	0.81[AFR][1000 genomes]
rs552171	0.81[AFR][1000 genomes]
rs571164	0.97[ASN][1000 genomes]
rs704749	0.82[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs7109762	0.85[ASN][1000 genomes]
rs7110293	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs967751	0.86[AMR][1000 genomes];0.94[EUR][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	nsv832118	chr11:34743123-34903951	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1049551	chr11:34811180-34833640	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
3	nsv832119	chr11:34815528-35009370	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs519858	DEPDC7	cis	parietal	SCAN
rs519858	APIP	cis	cerebellum	SCAN
rs519858	APIP	cis	Thyroid	GTEx
rs519858	APIP	cis	lung	GTEx

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34815000-34833600	Weak transcription	HepG2	liver
2	chr11:34829000-34832400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr11:34829600-34832400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr11:34829800-34832600	Enhancers	HUVEC	blood vessel
5	chr11:34830600-34832000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr11:34830600-34832200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr11:34830600-34832200	Enhancers	Hela-S3	cervix
8	chr11:34830600-34832400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr11:34830800-34832200	Enhancers	HMEC	breast
10	chr11:34831000-34832000	Enhancers	Sigmoid Colon	Sigmoid Colon
11	chr11:34831000-34832200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr11:34831000-34832200	Enhancers	Stomach Mucosa	stomach
13	chr11:34831200-34832000	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr11:34831400-34832000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr11:34831400-34832400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr11:34831600-34832000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr11:34831600-34832000	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr11:34831800-34832200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
19	chr11:34831800-34832400	Enhancers	K562	blood
20	chr11:34831800-34832400	Enhancers	NHEK	skin

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