Variant report

Variant	rs12685729
Chromosome Location	chr9:115637215-115637216
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:115632762..115634297-chr9:115636411..115638284,2	K562	blood:
2	chr9:115636547..115639081-chr9:115640753..115642299,2	K562	blood:
3	chr9:115630001..115632301-chr9:115634628..115637570,3	MCF-7	breast:
4	chr9:115634993..115639011-chr9:115640065..115646725,6	MCF-7	breast:
5	chr9:115636020..115638444-chr9:115640356..115642230,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1041086	0.82[ASN][1000 genomes]
rs10981529	0.80[AMR][1000 genomes]
rs11794827	0.80[AMR][1000 genomes]
rs12684608	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12686253	0.80[AMR][1000 genomes]
rs16917411	0.80[AMR][1000 genomes]
rs4979170	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758198	chr9:115240454-116002951	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	esv2759710	chr9:115240454-116002951	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv893733	chr9:115397206-115712068	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	esv2422302	chr9:115550339-115656433	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv1047000	chr9:115610445-115884038	ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:115601200-115641200	Weak transcription	Fetal Brain Male	brain
2	chr9:115607400-115643400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr9:115613600-115642600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr9:115615600-115639200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr9:115615600-115646400	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr9:115621200-115639400	Weak transcription	Stomach Mucosa	stomach
7	chr9:115624200-115652600	Weak transcription	Fetal Heart	heart
8	chr9:115625800-115645200	Weak transcription	Thymus	Thymus
9	chr9:115626400-115650800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr9:115627000-115647000	Weak transcription	Colonic Mucosa	Colon
11	chr9:115627600-115642000	Weak transcription	Primary hematopoietic stem cells	blood
12	chr9:115627600-115646800	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr9:115627800-115640600	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr9:115628600-115640800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr9:115630600-115642000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr9:115630600-115643400	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr9:115630600-115646400	Weak transcription	Fetal Lung	lung
18	chr9:115630600-115647200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr9:115630800-115643400	Weak transcription	NHEK	skin
20	chr9:115630800-115643600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr9:115630800-115643600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr9:115630800-115646400	Weak transcription	Placenta	Placenta
23	chr9:115631000-115639200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr9:115631200-115639600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr9:115631200-115643600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr9:115631200-115646400	Weak transcription	Fetal Kidney	kidney
27	chr9:115631400-115643800	Weak transcription	Colon Smooth Muscle	Colon
28	chr9:115631600-115642800	Weak transcription	Ovary	ovary
29	chr9:115631800-115642800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr9:115631800-115642800	Weak transcription	HSMM	muscle
31	chr9:115631800-115646400	Weak transcription	Rectal Smooth Muscle	rectum
32	chr9:115631800-115652200	Weak transcription	Gastric	stomach
33	chr9:115632000-115642600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr9:115632200-115644800	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr9:115632400-115643200	Weak transcription	HSMMtube	muscle
36	chr9:115632600-115641000	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr9:115632800-115639800	Weak transcription	Brain Germinal Matrix	brain
38	chr9:115632800-115643400	Weak transcription	HMEC	breast
39	chr9:115633000-115637400	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr9:115633000-115637800	Weak transcription	Brain Cingulate Gyrus	brain
41	chr9:115633000-115639000	Weak transcription	Aorta	Aorta
42	chr9:115633000-115639400	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr9:115633000-115645800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr9:115633000-115646400	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr9:115633000-115652600	Weak transcription	Left Ventricle	heart
46	chr9:115633200-115637600	Weak transcription	Fetal Brain Female	brain
47	chr9:115633200-115638000	Weak transcription	Fetal Muscle Leg	muscle
48	chr9:115633200-115638200	Weak transcription	Adipose Nuclei	Adipose
49	chr9:115633200-115638800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr9:115633200-115641200	Weak transcription	HepG2	liver

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