Variant report

Variant	rs12552742
Chromosome Location	chr9:93577130-93577131
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:93569272..93571391-chr9:93577022..93579806,2	K562	blood:
2	chr9:93566130..93568297-chr9:93575356..93577751,2	K562	blood:
3	chr9:93566139..93567654-chr9:93575721..93577420,2	MCF-7	breast:
4	chr9:93561901..93563996-chr9:93577117..93579715,2	MCF-7	breast:
5	chr9:93573891..93575434-chr9:93575492..93578203,2	MCF-7	breast:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11792561	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12005463	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12550873	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12682953	1.00[ASN][1000 genomes]
rs12685847	1.00[ASN][1000 genomes]
rs12686576	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1331504	1.00[ASN][1000 genomes]
rs1460836	1.00[ASN][1000 genomes]
rs17454793	1.00[ASN][1000 genomes]
rs60044325	0.84[AMR][1000 genomes]
rs61388775	0.84[AMR][1000 genomes]
rs62558478	1.00[ASN][1000 genomes]
rs62558479	1.00[ASN][1000 genomes]
rs62558496	1.00[ASN][1000 genomes]
rs62558501	1.00[ASN][1000 genomes]
rs62558503	1.00[ASN][1000 genomes]
rs62558550	1.00[ASN][1000 genomes]
rs62558551	1.00[ASN][1000 genomes]
rs62558552	1.00[ASN][1000 genomes]
rs62558553	1.00[ASN][1000 genomes]
rs62558555	1.00[ASN][1000 genomes]
rs62558557	1.00[ASN][1000 genomes]
rs62559062	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62559063	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7019286	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7046491	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046989	chr9:93353987-93800416	Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv893567	chr9:93519280-93609668	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv831652	chr9:93527411-93696923	Bivalent Enhancer Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv893568	chr9:93539879-93774385	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv893569	chr9:93552550-93587089	Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1038685	chr9:93556174-93685729	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:93565000-93609000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr9:93567800-93584800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr9:93567800-93584800	Weak transcription	Fetal Intestine Large	intestine
4	chr9:93567800-93597400	Weak transcription	Gastric	stomach
5	chr9:93571800-93577600	Weak transcription	Fetal Kidney	kidney
6	chr9:93572600-93591000	Weak transcription	Lung	lung
7	chr9:93572800-93584800	Weak transcription	Duodenum Mucosa	Duodenum
8	chr9:93573200-93589600	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr9:93573400-93577200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr9:93574000-93577400	Enhancers	Primary hematopoietic stem cells	blood
11	chr9:93574200-93577600	Weak transcription	HMEC	breast
12	chr9:93574600-93578000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr9:93574600-93578600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr9:93574600-93578800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr9:93574800-93577400	Enhancers	GM12878-XiMat	blood
16	chr9:93574800-93580200	Weak transcription	Pancreas	Pancrea
17	chr9:93575000-93580600	Weak transcription	Stomach Mucosa	stomach
18	chr9:93575200-93580400	Weak transcription	Fetal Intestine Small	intestine
19	chr9:93575400-93577800	Enhancers	Primary B cells from cord blood	blood
20	chr9:93575800-93577800	Enhancers	Fetal Thymus	thymus
21	chr9:93576000-93577400	Weak transcription	Fetal Stomach	stomach
22	chr9:93576200-93577600	Enhancers	Thymus	Thymus
23	chr9:93576200-93578400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
24	chr9:93576200-93579000	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr9:93576400-93577400	Enhancers	K562	blood
26	chr9:93576400-93577800	Enhancers	Spleen	Spleen
27	chr9:93576400-93580200	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr9:93576600-93577800	Enhancers	Rectal Mucosa Donor 29	rectum
29	chr9:93576600-93578200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr9:93576600-93578800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr9:93576800-93577600	Enhancers	Primary T cells from cord blood	blood
32	chr9:93576800-93577600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr9:93576800-93577600	Enhancers	Dnd41	blood
34	chr9:93576800-93577800	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr9:93576800-93578000	Enhancers	Esophagus	oesophagus
36	chr9:93576800-93578200	Enhancers	Adipose Nuclei	Adipose
37	chr9:93576800-93578600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
38	chr9:93576800-93582400	Weak transcription	Small Intestine	intestine
39	chr9:93577000-93577200	Enhancers	Colonic Mucosa	Colon
40	chr9:93577000-93577200	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr9:93577000-93577800	Enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr9:93577000-93577800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr9:93577000-93577800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
44	chr9:93577000-93577800	Enhancers	Fetal Muscle Leg	muscle
45	chr9:93577000-93578000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
46	chr9:93577000-93578200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chr9:93577000-93578200	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr9:93577000-93578200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr9:93577000-93578600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
50	chr9:93577000-93585800	Genic enhancers	Primary B cells from peripheral blood	blood

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