Variant report

Variant	rs10110018
Chromosome Location	chr8:61864853-61864854
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	chr8:61525760..61527520-chr8:61863383..61865720,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10086776	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10104895	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10109249	0.94[ASN][1000 genomes]
rs11985124	1.00[ASN][1000 genomes]
rs11988513	1.00[ASN][1000 genomes]
rs12335258	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28583647	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28688155	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6982130	0.84[ASN][1000 genomes]
rs6987075	1.00[ASN][1000 genomes]
rs6990915	1.00[ASN][1000 genomes]
rs7001966	0.97[ASN][1000 genomes]
rs72652592	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526196	chr8:61593569-61877623	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv429919	chr8:61771472-61979873	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv890947	chr8:61815886-61882751	Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv948922	chr8:61818964-62475097	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv890948	chr8:61844766-61954970	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	esv1008507	chr8:61857652-61872012	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	esv1011118	chr8:61858187-61869780	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	esv1004207	chr8:61858188-61869664	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	esv991927	chr8:61858213-61867356	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv521032	chr8:61858213-61867595	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	esv1008761	chr8:61858213-61869649	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv465695	chr8:61858213-61869649	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv465696	chr8:61858213-61869649	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv611423	chr8:61858213-61869649	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	nsv611424	chr8:61858213-61870447	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
16	esv2764117	chr8:61858213-61879683	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
17	esv3357776	chr8:61861811-61864920	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10110018	ASPH	cis	lymphoblastoid	seeQTL

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61859800-61865800	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr8:61860200-61866000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr8:61860400-61866000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:61860600-61866000	Enhancers	HMEC	breast
5	chr8:61860600-61866200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr8:61860600-61866200	Enhancers	NHDF-Ad	bronchial
7	chr8:61860800-61866600	Enhancers	NHLF	lung
8	chr8:61861000-61866000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr8:61861000-61866200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr8:61862800-61873800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr8:61862800-61879200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr8:61862800-61879600	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr8:61863000-61865000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr8:61863000-61866000	Enhancers	HSMMtube	muscle
15	chr8:61863000-61874000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr8:61863200-61867000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:61863200-61867000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr8:61863400-61865400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr8:61863400-61866000	Enhancers	Osteobl	bone
20	chr8:61863600-61866000	Enhancers	HSMM	muscle
21	chr8:61863600-61866000	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr8:61863600-61866000	Enhancers	NH-A	brain
23	chr8:61863600-61866200	Weak transcription	Primary B cells from cord blood	blood
24	chr8:61863600-61872000	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr8:61863800-61866200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr8:61864000-61865800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr8:61864000-61884400	Weak transcription	Primary T cells from cord blood	blood
28	chr8:61864600-61865400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr8:61864600-61866000	Enhancers	Hela-S3	cervix
30	chr8:61864600-61866000	Enhancers	NHEK	skin
31	chr8:61864600-61866400	Enhancers	Muscle Satellite Cultured Cells	--
32	chr8:61864800-61865200	Weak transcription	Primary monocytes fromperipheralblood	blood

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