Variant report

Variant	rs60698393
Chromosome Location	chr1:247361437-247361438
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:247361273..247363730-chr1:247370221..247373518,3	K562	blood:
2	chr1:247351089..247353173-chr1:247358781..247361501,2	K562	blood:
3	chr1:247357137..247358691-chr1:247359403..247361860,2	K562	blood:
4	chr1:247239136..247240695-chr1:247358681..247361608,2	K562	blood:
5	chr1:247351089..247356091-chr1:247358781..247361501,4	K562	blood:

Variant related genes	Relation type
ENSG00000227671	Chromatin interaction
ENSG00000259865	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10924964	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1115202	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12567626	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12569042	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17269923	0.99[EUR][1000 genomes]
rs2380117	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2892054	0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35229190	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3738443	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs41315860	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4269806	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4351686	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4551629	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4582838	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs55643126	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55675011	0.86[AFR][1000 genomes]
rs55914345	0.88[EUR][1000 genomes]
rs56029850	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56046175	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56065612	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56340510	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs57178323	0.87[AFR][1000 genomes]
rs58405512	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60240280	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61839991	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61839994	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61839996	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61839997	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61840000	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61840048	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61840053	0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61840054	0.90[EUR][1000 genomes]
rs61840055	0.88[EUR][1000 genomes]
rs61840056	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61840057	0.90[EUR][1000 genomes]
rs61840059	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6656425	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6660351	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6665647	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6666543	0.90[EUR][1000 genomes]
rs6668154	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6680197	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6684181	0.91[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6698690	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs74152976	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs74152980	0.84[AFR][1000 genomes]
rs74152988	0.85[AFR][1000 genomes]
rs7536883	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7546908	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7551871	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873424	chr1:246991094-247366380	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv1005208	chr1:247037441-247597975	Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	nsv535417	chr1:247094131-247409000	ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
4	nsv1005639	chr1:247094161-247401380	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
5	nsv535418	chr1:247094161-247401380	Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
6	nsv916236	chr1:247124353-247409065	Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
7	nsv948419	chr1:247130577-247400404	ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
8	nsv1012616	chr1:247173851-247365588	Active TSS Strong transcription ZNF genes & repeats Genic enhancers Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
9	nsv535420	chr1:247173851-247365588	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
10	nsv1002438	chr1:247173851-247401380	ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	30 gene(s)	inside rSNPs	diseases
11	esv3336179	chr1:247195262-247373269	Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
12	nsv833126	chr1:247273084-247476150	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	n/a
13	nsv873436	chr1:247339064-247385877	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	n/a
14	nsv873437	chr1:247340784-247366380	Strong transcription ZNF genes & repeats Enhancers Weak transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	n/a
15	nsv873438	chr1:247347971-247366380	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Enhancers Active TSS	TF binding region Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	n/a

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs60698393	RP11-488L18.10	cis	lung	GTEx
rs60698393	RP11-488L18.10	cis	Adipose Subcutaneous	GTEx
rs60698393	RP11-488L18.10	cis	Artery Tibial	GTEx

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:247346000-247370200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr1:247346000-247371800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
3	chr1:247347400-247362000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:247351800-247372400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
5	chr1:247352000-247368200	ZNF genes & repeats	Liver	Liver
6	chr1:247353000-247361800	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
7	chr1:247353000-247362200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:247353000-247367200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:247353000-247368000	ZNF genes & repeats	Primary B cells from cord blood	blood
10	chr1:247353000-247370400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr1:247353400-247372000	ZNF genes & repeats	GM12878-XiMat	blood
12	chr1:247353800-247362200	Weak transcription	Hela-S3	cervix
13	chr1:247354000-247371000	Weak transcription	Brain Angular Gyrus	brain
14	chr1:247354800-247371200	Weak transcription	Stomach Mucosa	stomach
15	chr1:247354800-247372400	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr1:247354800-247372400	Weak transcription	Right Ventricle	heart
17	chr1:247355000-247362400	Weak transcription	Brain Cingulate Gyrus	brain
18	chr1:247356000-247361600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:247356000-247362000	Weak transcription	HepG2	liver
20	chr1:247356000-247362400	Weak transcription	Pancreas	Pancrea
21	chr1:247356000-247363400	Strong transcription	Muscle Satellite Cultured Cells	--
22	chr1:247356000-247367200	Weak transcription	Brain Substantia Nigra	brain
23	chr1:247356000-247367800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr1:247356000-247372400	Weak transcription	Brain Anterior Caudate	brain
25	chr1:247356000-247372400	Weak transcription	Fetal Brain Male	brain
26	chr1:247356000-247372600	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr1:247356000-247372600	Weak transcription	Colon Smooth Muscle	Colon
28	chr1:247356200-247372400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr1:247356200-247372400	Weak transcription	Colonic Mucosa	Colon
30	chr1:247356400-247361600	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr1:247356400-247364600	Weak transcription	Aorta	Aorta
32	chr1:247356400-247372400	Weak transcription	Gastric	stomach
33	chr1:247356600-247364400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr1:247356600-247367800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr1:247357000-247367400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr1:247357200-247364000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
37	chr1:247357200-247367000	Strong transcription	Skeletal Muscle Female	skeletal muscle
38	chr1:247357200-247370800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
39	chr1:247357600-247363800	Strong transcription	HUVEC	blood vessel
40	chr1:247357600-247366200	Strong transcription	Adipose Nuclei	Adipose
41	chr1:247357600-247367800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr1:247357800-247363800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
43	chr1:247357800-247365400	Weak transcription	Brain Germinal Matrix	brain
44	chr1:247357800-247366400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr1:247358000-247363600	Strong transcription	Rectal Mucosa Donor 31	rectum
46	chr1:247358000-247368000	Strong transcription	Fetal Thymus	thymus
47	chr1:247358200-247363400	Strong transcription	HUES64 Cell Line	embryonic stem cell
48	chr1:247358200-247363600	Strong transcription	Duodenum Smooth Muscle	Duodenum
49	chr1:247358200-247363800	Strong transcription	Thymus	Thymus
50	chr1:247358200-247364200	Strong transcription	Left Ventricle	heart

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