Variant report

Variant	rs60489972
Chromosome Location	chr9:101015805-101015806
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:100962685..100965590-chr9:101014024..101016888,3	K562	blood:
2	chr9:100934229..100937131-chr9:101015572..101018332,2	MCF-7	breast:
3	chr9:100745090..100746942-chr9:101014665..101017073,2	MCF-7	breast:
4	chr9:100991095..100993951-chr9:101015784..101017449,2	MCF-7	breast:
5	chr9:100744384..100747791-chr9:101014978..101019057,4	MCF-7	breast:
6	chr9:100979926..100982589-chr9:101013541..101016209,2	MCF-7	breast:
7	chr9:101010838..101012752-chr9:101014329..101016410,2	MCF-7	breast:
8	chr9:100683079..100687048-chr9:101015405..101020638,4	K562	blood:
9	chr9:100951866..100957184-chr9:101014234..101020511,10	K562	blood:
10	chr9:100954775..100957184-chr9:101014893..101018488,3	K562	blood:
11	chr9:100683079..100686023-chr9:101015405..101017576,2	K562	blood:
12	chr9:100683337..100688322-chr9:101015638..101019207,5	MCF-7	breast:
13	chr9:101011351..101016361-chr9:101016435..101019100,7	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000136938	Chromatin interaction
ENSG00000106789	Chromatin interaction
ENSG00000136932	Chromatin interaction
ENSG00000095383	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10125738	0.84[EUR][1000 genomes]
rs12345664	0.84[EUR][1000 genomes]
rs16914245	1.00[EUR][1000 genomes]
rs16914425	1.00[EUR][1000 genomes]
rs2050575	0.84[EUR][1000 genomes]
rs57094433	1.00[EUR][1000 genomes]
rs57262924	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57583651	1.00[EUR][1000 genomes]
rs58106044	1.00[EUR][1000 genomes]
rs58523842	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58811309	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59313219	1.00[EUR][1000 genomes]
rs60522491	1.00[EUR][1000 genomes]
rs61349713	1.00[EUR][1000 genomes]
rs61752516	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7032496	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7048858	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73488716	1.00[EUR][1000 genomes]
rs73488726	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73488743	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73488748	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73488767	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73488773	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73488774	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73488777	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73488779	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73488785	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73488791	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73490716	1.00[EUR][1000 genomes]
rs73490724	1.00[EUR][1000 genomes]
rs73490729	1.00[EUR][1000 genomes]
rs73490751	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430085	chr9:100928245-101339645	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv831663	chr9:100941048-101109492	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers 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	17 gene(s)	inside rSNPs	diseases
3	nsv1045780	chr9:100943318-101080389	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv540180	chr9:100943318-101080389	Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100989600-101016000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr9:100992200-101016000	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr9:100995000-101016600	Weak transcription	Brain Angular Gyrus	brain
4	chr9:100996000-101016000	Weak transcription	Pancreas	Pancrea
5	chr9:100996200-101017200	Weak transcription	Ovary	ovary
6	chr9:101004200-101017200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr9:101005200-101017200	Weak transcription	Brain Germinal Matrix	brain
8	chr9:101006600-101016600	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr9:101006800-101016800	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr9:101009000-101017200	Weak transcription	Aorta	Aorta
11	chr9:101009200-101016600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr9:101010200-101016600	Enhancers	Primary B cells from cord blood	blood
13	chr9:101010600-101017200	Enhancers	Placenta Amnion	Placenta Amnion
14	chr9:101011000-101016600	Weak transcription	Colon Smooth Muscle	Colon
15	chr9:101011600-101016600	Weak transcription	Primary B cells from peripheral blood	blood
16	chr9:101011600-101017200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr9:101011600-101017200	Weak transcription	Fetal Muscle Trunk	muscle
18	chr9:101011800-101016000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr9:101011800-101016000	Weak transcription	Adipose Nuclei	Adipose
20	chr9:101011800-101016400	Weak transcription	Primary T cells from cord blood	blood
21	chr9:101011800-101016600	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr9:101011800-101017200	Weak transcription	Left Ventricle	heart
23	chr9:101012600-101016600	Weak transcription	Primary hematopoietic stem cells	blood
24	chr9:101012800-101016600	Weak transcription	Fetal Lung	lung
25	chr9:101013000-101016800	Weak transcription	Right Ventricle	heart
26	chr9:101013000-101016800	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr9:101013000-101017000	Weak transcription	Right Atrium	heart
28	chr9:101013000-101017200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr9:101013200-101016600	Weak transcription	HepG2	liver
30	chr9:101013200-101016800	Weak transcription	Fetal Stomach	stomach
31	chr9:101013400-101016600	Weak transcription	Liver	Liver
32	chr9:101013600-101016200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr9:101014000-101016000	Weak transcription	Brain Substantia Nigra	brain
34	chr9:101014000-101016200	Transcr. at gene 5' and 3'	NHEK	skin
35	chr9:101014000-101016600	Transcr. at gene 5' and 3'	HSMM	muscle
36	chr9:101014000-101017400	Flanking Active TSS	Hela-S3	cervix
37	chr9:101014200-101016600	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr9:101014200-101016800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr9:101014200-101017200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr9:101014400-101016200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr9:101014400-101016400	Enhancers	K562	blood
42	chr9:101014400-101016800	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr9:101014600-101016400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr9:101014600-101016600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr9:101014600-101016800	Enhancers	Placenta	Placenta
46	chr9:101014600-101017000	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr9:101014800-101016000	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr9:101014800-101016000	Weak transcription	HUVEC	blood vessel
49	chr9:101014800-101016200	Enhancers	Lung	lung
50	chr9:101014800-101016200	Enhancers	Rectal Mucosa Donor 31	rectum

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