Variant report

Variant	rs62526622
Chromosome Location	chr8:120864840-120864841
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:120855437..120859614-chr8:120861545..120865499,3	K562	blood:
2	chr8:120864286..120866629-chr8:120867050..120869030,2	K562	blood:

Variant related genes	Relation type
ENSG00000136982	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 11 )

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10086801	0.84[ASN][1000 genomes]
rs10108101	0.81[ASN][1000 genomes]
rs10955938	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10955939	0.84[ASN][1000 genomes]
rs11785110	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11991780	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16893240	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16893243	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16893249	0.84[ASN][1000 genomes]
rs16893252	0.84[ASN][1000 genomes]
rs28619135	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28700049	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55741337	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55776270	0.84[ASN][1000 genomes]
rs55889147	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58900911	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs62526621	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62526623	0.84[ASN][1000 genomes]
rs62526624	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62526625	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62526635	0.84[ASN][1000 genomes]
rs62526636	0.84[ASN][1000 genomes]
rs62526637	0.84[ASN][1000 genomes]
rs62526638	0.84[ASN][1000 genomes]
rs62526639	0.84[ASN][1000 genomes]
rs62526640	0.84[ASN][1000 genomes]
rs62526641	0.84[ASN][1000 genomes]
rs62526642	0.84[ASN][1000 genomes]
rs6981251	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6982092	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6987018	0.84[ASN][1000 genomes]
rs6987100	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6987160	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6987389	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6989803	0.86[ASN][1000 genomes]
rs6994085	0.86[ASN][1000 genomes]
rs7002440	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7007123	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7007265	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs72690123	0.84[ASN][1000 genomes]
rs72690128	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72690134	0.84[ASN][1000 genomes]
rs72690137	0.84[ASN][1000 genomes]
rs73705442	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7813113	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7815122	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7815389	0.86[ASN][1000 genomes]
rs7823836	0.84[ASN][1000 genomes]
rs7823910	0.84[ASN][1000 genomes]
rs7823917	0.84[ASN][1000 genomes]
rs7825443	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7828086	0.86[ASN][1000 genomes]
rs7843080	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7843579	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534028	chr8:120348940-120906079	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv949368	chr8:120568034-121019872	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv1021071	chr8:120589963-120968317	Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv891418	chr8:120600965-121301474	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv465789	chr8:120636850-120994394	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv612111	chr8:120636850-120994394	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv427826	chr8:120642181-120953395	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:11)

SNP	Gene	Cis/trans	Tissue	Source
rs62526622	DSCC1	cis	Artery Tibial	GTEx
rs62526622	DSCC1	cis	Esophagus Muscularis	GTEx
rs62526622	DSCC1	cis	lung	GTEx
rs62526622	DSCC1	cis	Thyroid	GTEx
rs62526622	DSCC1	cis	Muscle Skeletal	GTEx
rs62526622	DSCC1	cis	Stomach	GTEx
rs62526622	DSCC1	cis	Artery Aorta	GTEx
rs62526622	DSCC1	cis	Nerve Tibial	GTEx
rs62526622	DSCC1	cis	Adipose Subcutaneous	GTEx
rs62526622	DSCC1	cis	Heart Left Ventricle	GTEx
rs62526622	DSCC1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120845600-120865600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:120845600-120867400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr8:120846000-120867200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:120846200-120865600	Strong transcription	HUES64 Cell Line	embryonic stem cell
5	chr8:120846200-120865600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
6	chr8:120846200-120865800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:120846200-120866000	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr8:120846200-120867000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr8:120846200-120867000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr8:120846200-120867000	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr8:120846200-120867000	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr8:120846200-120867000	Weak transcription	Osteobl	bone
13	chr8:120846200-120867200	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr8:120846200-120867200	Weak transcription	Right Ventricle	heart
15	chr8:120846200-120867400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr8:120846200-120867600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr8:120846200-120867600	Weak transcription	Gastric	stomach
18	chr8:120846200-120867600	Weak transcription	Pancreas	Pancrea
19	chr8:120846400-120866800	Weak transcription	Primary B cells from cord blood	blood
20	chr8:120846400-120867000	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr8:120846400-120867200	Weak transcription	Liver	Liver
22	chr8:120846600-120866000	Weak transcription	HepG2	liver
23	chr8:120846600-120867000	Weak transcription	Primary T cells from cord blood	blood
24	chr8:120846800-120866400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr8:120847400-120867000	Weak transcription	HSMM	muscle
26	chr8:120850200-120866400	Weak transcription	NHLF	lung
27	chr8:120850200-120866800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr8:120850200-120866800	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr8:120850200-120866800	Weak transcription	Fetal Brain Male	brain
30	chr8:120850200-120867400	Weak transcription	Ovary	ovary
31	chr8:120850400-120866600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr8:120850400-120867200	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr8:120850400-120867600	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr8:120850600-120866600	Weak transcription	HMEC	breast
35	chr8:120850600-120867000	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr8:120850800-120867000	Weak transcription	Fetal Brain Female	brain
37	chr8:120852200-120866800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr8:120852200-120866800	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr8:120852200-120866800	Weak transcription	NHEK	skin
40	chr8:120852400-120866800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr8:120852600-120866200	Weak transcription	A549	lung
42	chr8:120852600-120866800	Weak transcription	Duodenum Mucosa	Duodenum
43	chr8:120852600-120867000	Weak transcription	Adipose Nuclei	Adipose
44	chr8:120852600-120867200	Weak transcription	Brain Hippocampus Middle	brain
45	chr8:120852800-120865600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr8:120852800-120865800	Weak transcription	Thymus	Thymus
47	chr8:120852800-120866200	Weak transcription	Primary hematopoietic stem cells	blood
48	chr8:120852800-120866800	Weak transcription	Fetal Intestine Large	intestine
49	chr8:120852800-120867000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr8:120853000-120867600	Weak transcription	Aorta	Aorta

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