Variant report

Variant	rs61438417
Chromosome Location	chr8:120854695-120854696
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:120847721..120850147-chr8:120852543..120855750,4	K562	blood:
2	chr8:120843795..120849237-chr8:120850670..120854947,7	MCF-7	breast:
3	chr8:120853574..120857116-chr8:120866362..120870527,5	K562	blood:
4	chr8:120850240..120852380-chr8:120853597..120855807,2	K562	blood:

Variant related genes	Relation type
ENSG00000064313	Chromatin interaction
ENSG00000136982	Chromatin interaction

Extended variants
information (count: 96 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs10086801	0.84[ASN][1000 genomes]
rs10088205	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10088741	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10108101	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10955939	0.84[ASN][1000 genomes]
rs11785572	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11985347	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11991780	0.84[ASN][1000 genomes]
rs11996390	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11998531	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12156318	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1355174	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16893214	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16893240	0.84[ASN][1000 genomes]
rs16893243	0.84[ASN][1000 genomes]
rs16893249	0.84[ASN][1000 genomes]
rs16893252	0.84[ASN][1000 genomes]
rs17818097	0.85[ASN][1000 genomes]
rs17818440	0.85[ASN][1000 genomes]
rs17818446	0.85[ASN][1000 genomes]
rs17818842	1.00[ASN][1000 genomes]
rs2063283	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2063284	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28394804	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28490296	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28551477	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55776270	0.84[ASN][1000 genomes]
rs55889147	0.84[ASN][1000 genomes]
rs56180159	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56281801	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56366115	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs58900911	0.84[ASN][1000 genomes]
rs60145621	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs60917006	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62526598	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62526601	0.85[ASN][1000 genomes]
rs62526606	0.85[ASN][1000 genomes]
rs62526620	1.00[ASN][1000 genomes]
rs62526621	0.84[ASN][1000 genomes]
rs62526623	0.84[ASN][1000 genomes]
rs62526624	0.84[ASN][1000 genomes]
rs62526625	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]
rs6469845	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6981251	0.84[ASN][1000 genomes]
rs6982092	0.84[ASN][1000 genomes]
rs6987018	0.84[ASN][1000 genomes]
rs6987100	0.84[ASN][1000 genomes]
rs6987160	0.84[ASN][1000 genomes]
rs6987389	0.84[ASN][1000 genomes]
rs6988621	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6989803	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6994085	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6995594	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6999808	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7002440	0.84[ASN][1000 genomes]
rs7002501	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7003687	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7007123	0.84[ASN][1000 genomes]
rs7007265	0.84[ASN][1000 genomes]
rs72690112	1.00[ASN][1000 genomes]
rs72690123	0.84[ASN][1000 genomes]
rs72690128	0.84[ASN][1000 genomes]
rs72690134	0.84[ASN][1000 genomes]
rs72690137	0.84[ASN][1000 genomes]
rs73705442	0.84[ASN][1000 genomes]
rs7815389	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7823836	0.84[ASN][1000 genomes]
rs7823910	0.84[ASN][1000 genomes]
rs7823917	0.84[ASN][1000 genomes]
rs7827811	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7828086	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7831639	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7831973	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7836830	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7838465	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7843080	0.84[ASN][1000 genomes]
rs7843579	0.84[ASN][1000 genomes]
rs9297606	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs953614	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs953615	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9650078	0.85[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

No data

Chromatin state (count:92 , 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	chr8:120845800-120855200	Weak transcription	NH-A	brain
4	chr8:120846000-120855000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr8:120846000-120867200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr8:120846200-120855400	Strong transcription	HUES6 Cell Line	embryonic stem cell
7	chr8:120846200-120856000	Weak transcription	Left Ventricle	heart
8	chr8:120846200-120857000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr8:120846200-120857200	Strong transcription	Fetal Thymus	thymus
10	chr8:120846200-120859400	Weak transcription	Lung	lung
11	chr8:120846200-120865600	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr8:120846200-120865600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
13	chr8:120846200-120865800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:120846200-120866000	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr8:120846200-120867000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr8:120846200-120867000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr8:120846200-120867000	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr8:120846200-120867000	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr8:120846200-120867000	Weak transcription	Osteobl	bone
20	chr8:120846200-120867200	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr8:120846200-120867200	Weak transcription	Right Ventricle	heart
22	chr8:120846200-120867400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr8:120846200-120867600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr8:120846200-120867600	Weak transcription	Gastric	stomach
25	chr8:120846200-120867600	Weak transcription	Pancreas	Pancrea
26	chr8:120846400-120856800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr8:120846400-120857000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
28	chr8:120846400-120861200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr8:120846400-120866800	Weak transcription	Primary B cells from cord blood	blood
30	chr8:120846400-120867000	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr8:120846400-120867200	Weak transcription	Liver	Liver
32	chr8:120846600-120854800	Weak transcription	NHDF-Ad	bronchial
33	chr8:120846600-120866000	Weak transcription	HepG2	liver
34	chr8:120846600-120867000	Weak transcription	Primary T cells from cord blood	blood
35	chr8:120846800-120866400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr8:120847400-120867000	Weak transcription	HSMM	muscle
37	chr8:120847600-120857000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr8:120847800-120855000	Strong transcription	H9 Cell Line	embryonic stem cell
39	chr8:120847800-120855000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr8:120847800-120858600	Weak transcription	Fetal Intestine Small	intestine
41	chr8:120847800-120861200	Strong transcription	H1 Cell Line	embryonic stem cell
42	chr8:120847800-120863000	Strong transcription	Dnd41	blood
43	chr8:120848000-120855000	Strong transcription	Fetal Muscle Trunk	muscle
44	chr8:120849400-120858600	Weak transcription	Hela-S3	cervix
45	chr8:120850200-120859000	Weak transcription	Brain Anterior Caudate	brain
46	chr8:120850200-120866400	Weak transcription	NHLF	lung
47	chr8:120850200-120866800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr8:120850200-120866800	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr8:120850200-120866800	Weak transcription	Fetal Brain Male	brain
50	chr8:120850200-120867400	Weak transcription	Ovary	ovary

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