Variant report

Variant	rs62336863
Chromosome Location	chr5:1653303-1653304
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:1651364..1654972-chr5:1656341..1659968,4	K562	blood:
2	chr5:1652097..1654972-chr5:1657057..1658557,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11948318	0.81[ASN][1000 genomes]
rs11951713	0.84[ASN][1000 genomes]
rs11952443	0.85[ASN][1000 genomes]
rs57743634	0.84[ASN][1000 genomes]
rs62336861	0.80[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	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
7	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
8	nsv881328	chr5:1637461-1671200	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
9	nsv596886	chr5:1644651-1655800	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv433369	chr5:1644735-1656054	Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	esv3440472	chr5:1650477-1653325	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs62336863	LOC728613	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:1652200-1653400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
2	chr5:1652600-1653600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
3	chr5:1652600-1655000	Enhancers	Primary B cells from cord blood	blood
4	chr5:1652800-1653400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr5:1652800-1653400	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
6	chr5:1652800-1653400	Enhancers	Right Ventricle	heart
7	chr5:1652800-1653400	Bivalent Enhancer	NHLF	lung
8	chr5:1652800-1653600	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr5:1652800-1653600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
10	chr5:1652800-1653800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
11	chr5:1652800-1654000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr5:1652800-1654000	Bivalent Enhancer	Colon Smooth Muscle	Colon
13	chr5:1652800-1654200	Bivalent Enhancer	Placenta	Placenta
14	chr5:1652800-1654200	Enhancers	Pancreas	Pancrea
15	chr5:1653000-1653400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr5:1653000-1653600	Enhancers	Primary hematopoietic stem cells	blood
17	chr5:1653000-1653600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
18	chr5:1653000-1653600	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
19	chr5:1653000-1653600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
20	chr5:1653000-1653600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr5:1653000-1653800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
22	chr5:1653000-1653800	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
23	chr5:1653000-1653800	Bivalent Enhancer	Fetal Lung	lung
24	chr5:1653000-1653800	Bivalent Enhancer	Fetal Thymus	thymus
25	chr5:1653000-1653800	Bivalent Enhancer	NHDF-Ad	bronchial
26	chr5:1653000-1654000	Enhancers	Fetal Heart	heart
27	chr5:1653000-1654000	Bivalent Enhancer	Fetal Stomach	stomach
28	chr5:1653000-1654600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
29	chr5:1653000-1654600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
30	chr5:1653000-1654600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
31	chr5:1653000-1654800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
32	chr5:1653000-1654800	Enhancers	Spleen	Spleen
33	chr5:1653200-1653400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
34	chr5:1653200-1653400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr5:1653200-1653400	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
36	chr5:1653200-1653400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr5:1653200-1653400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr5:1653200-1653400	Enhancers	GM12878-XiMat	blood
39	chr5:1653200-1653400	Bivalent Enhancer	HSMMtube	muscle
40	chr5:1653200-1653600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
41	chr5:1653200-1653600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
42	chr5:1653200-1653600	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
43	chr5:1653200-1653600	Bivalent Enhancer	Brain Hippocampus Middle	brain
44	chr5:1653200-1653600	Bivalent Enhancer	Fetal Brain Female	brain
45	chr5:1653200-1653600	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
46	chr5:1653200-1653600	Bivalent Enhancer	A549	lung
47	chr5:1653200-1653600	Bivalent Enhancer	HMEC	breast
48	chr5:1653200-1653800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
49	chr5:1653200-1653800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr5:1653200-1653800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland

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