Variant report

Variant	rs62152966
Chromosome Location	chr2:96823524-96823525
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:96811510..96816930-chr2:96820807..96824820,9	K562	blood:
2	chr2:96819343..96823786-chr2:96825420..96829084,5	K562	blood:
3	chr2:96820286..96828646-chr2:96829192..96834775,11	K562	blood:
4	chr2:96811510..96813864-chr2:96822045..96825022,3	K562	blood:
5	chr2:96821981..96823786-chr2:96826667..96829084,2	K562	blood:
6	chr1:220376615..220377115-chr2:96823089..96823590,2	NB4	blood:
7	chr2:96820873..96826236-chr2:96872266..96875542,4	K562	blood:
8	chr2:96817307..96820123-chr2:96822215..96825688,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000084090	Chromatin interaction
ENSG00000228873	Chromatin interaction
ENSG00000204685	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs17119615	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56088823	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs60409279	1.00[AFR][1000 genomes]
rs61624166	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62152972	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs6576968	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs6756208	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73958180	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs997547	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1840487	chr2:96582807-96836512	Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv874673	chr2:96647856-96825363	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	esv1825266	chr2:96704118-96830753	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv1004129	chr2:96738585-96825363	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
5	nsv933671	chr2:96739308-97652262	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
6	nsv1000780	chr2:96740430-97671395	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
7	nsv535826	chr2:96740430-97671395	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
8	nsv874675	chr2:96741944-96825363	Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
9	nsv874676	chr2:96753149-96825363	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
10	esv1819594	chr2:96755038-96833480	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
11	nsv1008495	chr2:96755070-96825363	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
12	nsv874677	chr2:96756547-97717345	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
13	nsv1015000	chr2:96757107-96825363	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
14	nsv1001204	chr2:96766559-97728507	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
15	nsv535827	chr2:96766559-97728507	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
16	nsv1007132	chr2:96767204-96829489	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs62152966	AC008268.2	cis	Whole Blood	GTEx
rs62152966	AC008268.2	cis	Adipose Subcutaneous	GTEx
rs62152966	AC008268.2	cis	Nerve Tibial	GTEx
rs62152966	AC008268.2	cis	Artery Tibial	GTEx

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:96814400-96840000	Weak transcription	Right Atrium	heart
2	chr2:96818600-96827800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:96819600-96823600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:96819600-96823600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr2:96821000-96825600	Enhancers	Primary B cells from cord blood	blood
6	chr2:96821000-96825800	Enhancers	Primary B cells from peripheral blood	blood
7	chr2:96821000-96831800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr2:96821800-96823600	Enhancers	Primary T cells from cord blood	blood
9	chr2:96821800-96823600	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr2:96821800-96825400	Enhancers	Spleen	Spleen
11	chr2:96821800-96825600	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr2:96821800-96825600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
13	chr2:96821800-96825800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr2:96822000-96825200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr2:96822200-96825200	Enhancers	Primary hematopoietic stem cells	blood
16	chr2:96822200-96825800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr2:96822600-96823600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
18	chr2:96822600-96824600	Flanking Active TSS	GM12878-XiMat	blood
19	chr2:96822800-96823800	Bivalent Enhancer	Fetal Muscle Leg	muscle
20	chr2:96822800-96824000	Enhancers	Esophagus	oesophagus
21	chr2:96822800-96824400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr2:96822800-96824400	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr2:96822800-96824400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
24	chr2:96822800-96824800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
25	chr2:96823000-96823600	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr2:96823000-96823800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
27	chr2:96823000-96824200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
28	chr2:96823000-96824800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr2:96823000-96824800	Enhancers	Rectal Mucosa Donor 29	rectum
30	chr2:96823200-96823600	Enhancers	Colonic Mucosa	Colon
31	chr2:96823200-96823800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr2:96823200-96824000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr2:96823200-96824000	Enhancers	NH-A	brain
34	chr2:96823200-96824200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
35	chr2:96823200-96824200	Flanking Active TSS	Fetal Thymus	thymus
36	chr2:96823200-96824600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr2:96823200-96825000	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr2:96823200-96825000	Weak transcription	Dnd41	blood
39	chr2:96823400-96823600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr2:96823400-96823600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr2:96823400-96823800	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr2:96823400-96823800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr2:96823400-96823800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
44	chr2:96823400-96823800	Flanking Active TSS	Thymus	Thymus
45	chr2:96823400-96824000	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr2:96823400-96824000	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr2:96823400-96824200	Enhancers	Primary neutrophils fromperipheralblood	blood
48	chr2:96823400-96824200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
49	chr2:96823400-96824200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
50	chr2:96823400-96824200	Flanking Active TSS	K562	blood

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