Variant report

Variant	rs7005000
Chromosome Location	chr8:8796602-8796603
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	chr8:8792434..8796663-chr8:8799601..8802595,4	K562	blood:
2	chr8:8794991..8796663-chr8:8800677..8802595,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs10112585	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11776838	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12542733	0.81[AMR][1000 genomes]
rs2043132	0.81[ASN][1000 genomes]
rs28446104	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28730413	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34583341	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35342402	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs448231	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4841071	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4841072	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6422352	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6601273	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6601274	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6601275	0.94[ASN][1000 genomes]
rs67047903	0.92[ASN][1000 genomes]
rs6982832	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6983150	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6986546	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6987224	0.94[ASN][1000 genomes]
rs7008005	0.94[ASN][1000 genomes]
rs7819827	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7823898	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7828355	0.95[ASN][1000 genomes]
rs7836886	0.94[ASN][1000 genomes]
rs7837026	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7838674	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7842359	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7844374	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs891570	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][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	nsv890331	chr8:8093240-8971100	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv995047	chr8:8353662-8857913	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv917117	chr8:8621658-9313799	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv831229	chr8:8751523-8926235	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1017388	chr8:8759494-8826714	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1017238	chr8:8760138-8831662	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1026913	chr8:8773659-8838256	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	esv275140	chr8:8793969-8796831	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7005000	RP11-62H7.2	cis	Thyroid	GTEx
rs7005000	BLK	Cis_chr	lymphoblastoid	RTeQTL
rs7005000	C8orf5	Cis_chr	lymphoblastoid	RTeQTL

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8779600-8799800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr8:8780600-8799800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr8:8781000-8799800	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr8:8781200-8815200	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr8:8781600-8816600	Weak transcription	Primary T cells from cord blood	blood
6	chr8:8782400-8799800	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr8:8786200-8820600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr8:8791600-8799600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr8:8792400-8800200	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr8:8792600-8798600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr8:8793000-8802600	Weak transcription	Small Intestine	intestine
12	chr8:8793200-8797000	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr8:8793200-8797400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr8:8793400-8804200	Weak transcription	Right Atrium	heart
15	chr8:8794000-8798600	Weak transcription	Placenta	Placenta
16	chr8:8794200-8807200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr8:8794600-8799800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr8:8794600-8800000	Weak transcription	Dnd41	blood
19	chr8:8794800-8799600	Weak transcription	K562	blood
20	chr8:8795600-8798200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr8:8795800-8796800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr8:8795800-8797000	Enhancers	Fetal Brain Male	brain
23	chr8:8795800-8797200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr8:8796000-8796800	Enhancers	Fetal Brain Female	brain
25	chr8:8796000-8796800	Enhancers	Right Ventricle	heart
26	chr8:8796200-8796800	Enhancers	Left Ventricle	heart
27	chr8:8796200-8797400	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr8:8796200-8797400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr8:8796200-8798400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr8:8796200-8798600	Enhancers	Osteobl	bone
31	chr8:8796200-8799800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr8:8796200-8799800	Weak transcription	Fetal Thymus	thymus
33	chr8:8796400-8797200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr8:8796400-8797400	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr8:8796400-8797800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr8:8796400-8798000	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr8:8796400-8798000	Weak transcription	Fetal Muscle Leg	muscle
38	chr8:8796400-8799800	Weak transcription	Fetal Intestine Small	intestine
39	chr8:8796600-8797800	Weak transcription	Liver	Liver
40	chr8:8796600-8799000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr8:8796600-8799200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr8:8796600-8799400	Weak transcription	Adipose Nuclei	Adipose
43	chr8:8796600-8799800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr8:8796600-8800600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr8:8796600-8803200	Weak transcription	Fetal Intestine Large	intestine

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