Variant report

Variant	rs62335926
Chromosome Location	chr5:1633942-1633943
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:220549582..220550397-chr5:1633906..1634538,2	HCT-116	colon:
2	chr11:18548173..18549021-chr5:1633797..1634587,2	Hela-S3	cervix:
3	chr15:60690446..60691098-chr5:1633940..1634587,2	Hela-S3	cervix:
4	chr5:1633756..1634705-chr6:27100367..27101254,2	Hela-S3	cervix:
5	chr3:169482234..169483056-chr5:1633603..1634536,2	Hela-S3	cervix:
6	chr13:76334345..76334921-chr5:1633791..1634398,2	Hela-S3	cervix:
7	chr2:99951914..99953131-chr5:1633620..1634641,3	Hela-S3	cervix:
8	chr5:1347764..1350129-chr5:1631038..1633995,2	K562	blood:

Variant related genes	Relation type
ENSG00000115514	Chromatin interaction
ENSG00000124635	Chromatin interaction
ENSG00000196787	Chromatin interaction
ENSG00000182718	Chromatin interaction
ENSG00000227308	Chromatin interaction
ENSG00000136153	Chromatin interaction
ENSG00000270141	Chromatin interaction
ENSG00000074319	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10042068	0.85[EUR][1000 genomes]
rs2883369	0.84[ASN][1000 genomes]
rs4975682	0.80[ASN][1000 genomes]
rs62335940	0.84[ASN][1000 genomes]
rs62335941	0.84[ASN][1000 genomes]
rs62335954	0.83[ASN][1000 genomes]
rs62335956	0.83[ASN][1000 genomes]
rs6861928	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6896140	0.81[ASN][1000 genomes]
rs9312910	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933805	chr5:1450724-1941619	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv880740	chr5:1468287-1671200	Weak transcription Strong transcription Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	49 gene(s)	inside rSNPs	diseases
3	nsv881554	chr5:1468287-1696932	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	49 gene(s)	inside rSNPs	diseases
4	nsv817407	chr5:1495354-2191460	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	107 gene(s)	inside rSNPs	diseases
5	nsv881096	chr5:1503610-1671200	Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
6	nsv964815	chr5:1608931-1639317	Strong transcription Active TSS Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv880390	chr5:1612612-1653418	Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv880788	chr5:1629407-1671200	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
9	esv19841	chr5:1631508-1636570	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs62335926	CTD-2012J19.1	cis	lung	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:1595000-1634000	Weak transcription	Stomach Mucosa	stomach
2	chr5:1632000-1634400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:1632200-1634200	Weak transcription	Fetal Brain Male	brain
4	chr5:1632200-1635000	Active TSS	K562	blood
5	chr5:1632600-1634800	Active TSS	HepG2	liver
6	chr5:1632800-1634000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr5:1632800-1634000	Active TSS	Fetal Stomach	stomach
8	chr5:1632800-1634200	Active TSS	Adipose Nuclei	Adipose
9	chr5:1632800-1634400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr5:1632800-1634400	Active TSS	Rectal Mucosa Donor 29	rectum
11	chr5:1632800-1634400	Active TSS	Stomach Smooth Muscle	stomach
12	chr5:1632800-1634600	Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr5:1632800-1634600	Active TSS	Brain Angular Gyrus	brain
14	chr5:1632800-1634600	Active TSS	Right Ventricle	heart
15	chr5:1632800-1634800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr5:1632800-1634800	Active TSS	Rectal Smooth Muscle	rectum
17	chr5:1632800-1635000	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr5:1632800-1635000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr5:1632800-1635000	Active TSS	Fetal Intestine Small	intestine
20	chr5:1632800-1635200	Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr5:1632800-1635200	Active TSS	HSMM	muscle
22	chr5:1633000-1634000	Active TSS	Skeletal Muscle Female	skeletal muscle
23	chr5:1633000-1634000	Weak transcription	GM12878-XiMat	blood
24	chr5:1633000-1634200	Active TSS	Fetal Brain Female	brain
25	chr5:1633000-1634400	Active TSS	Breast Myoepithelial Primary Cells	Breast
26	chr5:1633000-1634400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr5:1633000-1634800	Active TSS	HUES64 Cell Line	embryonic stem cell
28	chr5:1633000-1634800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr5:1633000-1634800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr5:1633000-1634800	Active TSS	Brain Hippocampus Middle	brain
31	chr5:1633000-1635000	Active TSS	Hela-S3	cervix
32	chr5:1633200-1634200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr5:1633200-1634200	Active TSS	Cortex derived primary cultured neurospheres	brain
34	chr5:1633200-1634200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
35	chr5:1633200-1634200	Active TSS	Fetal Muscle Trunk	muscle
36	chr5:1633200-1634200	Active TSS	Fetal Thymus	thymus
37	chr5:1633200-1634200	Active TSS	Rectal Mucosa Donor 31	rectum
38	chr5:1633200-1634200	Active TSS	Thymus	Thymus
39	chr5:1633200-1634200	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
40	chr5:1633200-1634200	Active TSS	NHLF	lung
41	chr5:1633200-1634400	Active TSS	H1 Cell Line	embryonic stem cell
42	chr5:1633200-1634400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr5:1633200-1634400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr5:1633200-1634400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr5:1633200-1634400	Active TSS	Primary T helper cells fromperipheralblood	blood
46	chr5:1633200-1634400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr5:1633200-1634400	Active TSS	Duodenum Mucosa	Duodenum
48	chr5:1633200-1634400	Active TSS	Fetal Intestine Large	intestine
49	chr5:1633200-1634400	Active TSS	Skeletal Muscle Male	skeletal muscle
50	chr5:1633200-1634400	Active TSS	NHEK	skin

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