Variant report

Variant	rs2388192
Chromosome Location	chr8:103639933-103639934
allele	C/T
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:103638875..103641204-chr8:103798891..103801842,3	MCF-7	breast:
2	chr8:103639519..103640281-chr8:103822930..103823782,4	MCF-7	breast:
3	chr8:103638730..103642072-chr8:103644705..103647673,4	MCF-7	breast:
4	chr8:103625983..103628633-chr8:103638163..103641004,2	MCF-7	breast:
5	chr8:103638288..103640009-chr8:103821096..103823943,2	MCF-7	breast:
6	chr8:103635452..103642989-chr8:103815632..103824530,15	MCF-7	breast:
7	chr8:103639437..103639955-chr8:103826613..103827335,2	MCF-7	breast:
8	chr8:103639826..103643166-chr8:103658941..103661983,3	K562	blood:
9	chr8:103589874..103592222-chr8:103638978..103641450,2	K562	blood:
10	chr8:103612630..103613493-chr8:103639463..103640288,2	MCF-7	breast:
11	chr8:103630411..103632954-chr8:103639327..103641054,2	MCF-7	breast:
12	chr8:103639510..103640361-chr8:103826541..103827175,2	MCF-7	breast:
13	chr8:103627845..103629493-chr8:103639298..103641445,3	K562	blood:
14	chr20:55904520..55905348-chr8:103639309..103640284,2	MCF-7	breast:
15	chr8:103639335..103640286-chr8:103822929..103823765,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000054796	Chromatin interaction
ENSG00000253669	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10955288	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12546601	0.83[ASN][1000 genomes]
rs12548858	0.83[AFR][1000 genomes]
rs12549399	0.83[AFR][1000 genomes]
rs12674767	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12675196	0.85[ASN][1000 genomes]
rs12675239	1.00[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs12680908	0.83[AFR][1000 genomes]
rs12682093	0.83[ASN][1000 genomes]
rs1318752	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16869664	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16869676	0.83[ASN][1000 genomes]
rs16869724	0.83[AFR][1000 genomes]
rs2511701	0.83[AFR][1000 genomes]
rs2513924	0.83[AFR][1000 genomes]
rs35509459	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55750587	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55814340	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56398883	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56929055	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs60320584	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72683098	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72683100	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72683101	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72683102	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72685103	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72685104	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72685109	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72685110	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72685117	0.81[ASN][1000 genomes]
rs73276720	0.80[ASN][1000 genomes]
rs9642791	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9642792	0.94[ASN][1000 genomes]
rs9642979	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv1028329	chr8:103574775-103684362	Strong transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Weak transcription Flanking Active 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 target site	67 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103622800-103646400	Weak transcription	Psoas Muscle	Psoas
2	chr8:103635000-103646600	Weak transcription	Right Atrium	heart
3	chr8:103637200-103642400	Enhancers	Placenta	Placenta
4	chr8:103638000-103641400	Enhancers	HepG2	liver
5	chr8:103638400-103640200	Weak transcription	Liver	Liver
6	chr8:103639000-103641400	Enhancers	K562	blood
7	chr8:103639400-103640200	Enhancers	Colon Smooth Muscle	Colon
8	chr8:103639400-103640400	Enhancers	Fetal Brain Male	brain
9	chr8:103639400-103640800	Enhancers	Rectal Smooth Muscle	rectum
10	chr8:103639400-103641000	Enhancers	A549	lung
11	chr8:103639600-103640000	Enhancers	H1 Cell Line	embryonic stem cell
12	chr8:103639600-103640000	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr8:103639600-103640000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr8:103639600-103640000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr8:103639600-103640000	Enhancers	Fetal Muscle Trunk	muscle
16	chr8:103639600-103640200	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr8:103639600-103640200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr8:103639600-103640200	Enhancers	NHDF-Ad	bronchial
19	chr8:103639600-103640400	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr8:103639600-103640400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
21	chr8:103639600-103640400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr8:103639600-103640600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr8:103639600-103640800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr8:103639600-103640800	Enhancers	Fetal Muscle Leg	muscle
25	chr8:103639600-103641200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr8:103639600-103641200	Enhancers	Left Ventricle	heart
27	chr8:103639600-103641200	Enhancers	Placenta Amnion	Placenta Amnion
28	chr8:103639600-103641600	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr8:103639800-103640000	Enhancers	Right Ventricle	heart
30	chr8:103639800-103640000	Enhancers	Stomach Smooth Muscle	stomach
31	chr8:103639800-103640200	Enhancers	Muscle Satellite Cultured Cells	--
32	chr8:103639800-103640200	Enhancers	HSMM	muscle
33	chr8:103639800-103640400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr8:103639800-103640400	Enhancers	Fetal Brain Female	brain
35	chr8:103639800-103640400	Weak transcription	Fetal Heart	heart
36	chr8:103639800-103640400	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr8:103639800-103640400	Enhancers	Osteobl	bone
38	chr8:103639800-103640600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr8:103639800-103640800	Enhancers	Fetal Stomach	stomach
40	chr8:103639800-103641200	Enhancers	Rectal Mucosa Donor 29	rectum
41	chr8:103639800-103641600	Enhancers	Duodenum Mucosa	Duodenum

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