Variant report

Variant	rs6916044
Chromosome Location	chr6:131707088-131707089
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:131614360..131616508-chr6:131705803..131707677,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10872381	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2206980	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6929522	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9385575	0.82[EUR][1000 genomes]
rs942150	0.84[EUR][1000 genomes]
rs9483268	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9492949	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032955	chr6:131298803-131818502	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv538443	chr6:131298803-131818502	Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv886664	chr6:131443843-131754930	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv830808	chr6:131521115-131735320	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
5	nsv515476	chr6:131615425-132228577	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	esv1839224	chr6:131703293-131834119	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6916044	VNN1	cis	cerebellum	SCAN

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131690000-131711200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr6:131701600-131708800	Weak transcription	Osteobl	bone
3	chr6:131701800-131712400	Enhancers	Fetal Brain Male	brain
4	chr6:131704000-131709400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr6:131704200-131708800	Weak transcription	Brain Germinal Matrix	brain
6	chr6:131705200-131707600	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr6:131705400-131707400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr6:131705400-131708000	Weak transcription	Fetal Muscle Leg	muscle
9	chr6:131705400-131708200	Weak transcription	Esophagus	oesophagus
10	chr6:131705400-131709800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr6:131705600-131708200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr6:131705600-131708400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr6:131705800-131707600	Enhancers	Placenta Amnion	Placenta Amnion
14	chr6:131705800-131708000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr6:131705800-131708600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr6:131706000-131708000	Weak transcription	Fetal Brain Female	brain
17	chr6:131706200-131708200	Weak transcription	HSMM	muscle
18	chr6:131706200-131708600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr6:131706400-131708200	Weak transcription	HSMMtube	muscle
20	chr6:131707000-131707200	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr6:131707000-131707600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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