Variant report

Variant	rs58502807
Chromosome Location	chr9:27333844-27333845
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:27332966..27333852-chr9:27535507..27536468,2	K562	blood:
2	chr9:27333009..27333876-chr9:27535565..27536408,4	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12350780	1.00[AMR][1000 genomes]
rs16911244	1.00[AMR][1000 genomes]
rs16911375	1.00[AMR][1000 genomes]
rs28633295	1.00[AMR][1000 genomes]
rs57676392	1.00[AMR][1000 genomes]
rs6475985	1.00[AMR][1000 genomes]
rs6475986	1.00[AMR][1000 genomes]
rs7024758	1.00[AMR][1000 genomes]
rs73643158	1.00[AMR][1000 genomes]
rs73643161	1.00[AMR][1000 genomes]
rs73643169	1.00[AMR][1000 genomes]
rs73643170	1.00[AMR][1000 genomes]
rs73643173	1.00[AMR][1000 genomes]
rs73643177	1.00[AMR][1000 genomes]
rs73643179	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73643180	1.00[AMR][1000 genomes]
rs73643182	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7869732	1.00[AMR][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	nsv1019104	chr9:27088160-27358206	Enhancers Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1019688	chr9:27234184-27356374	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv466337	chr9:27250868-27353460	Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv613949	chr9:27250868-27353460	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:27323600-27337400	Weak transcription	Spleen	Spleen
2	chr9:27324600-27337800	Weak transcription	Pancreas	Pancrea
3	chr9:27325000-27337400	Weak transcription	Colonic Mucosa	Colon
4	chr9:27326400-27335600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr9:27326800-27336800	Weak transcription	Fetal Muscle Leg	muscle
6	chr9:27326800-27337400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr9:27327200-27336400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr9:27328000-27337000	Weak transcription	Lung	lung
9	chr9:27329400-27336000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr9:27330000-27338000	Weak transcription	Fetal Brain Female	brain
11	chr9:27330000-27338400	Weak transcription	Psoas Muscle	Psoas
12	chr9:27330600-27337400	Weak transcription	Duodenum Mucosa	Duodenum
13	chr9:27330600-27337400	Weak transcription	Gastric	stomach
14	chr9:27330600-27337400	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr9:27330600-27338600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr9:27330600-27338800	Weak transcription	Fetal Brain Male	brain
17	chr9:27331200-27334000	Enhancers	Brain Germinal Matrix	brain
18	chr9:27331600-27336400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr9:27332200-27336000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr9:27332600-27334000	Enhancers	Brain Angular Gyrus	brain
21	chr9:27332800-27334000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
22	chr9:27332800-27334200	Enhancers	Brain Substantia Nigra	brain
23	chr9:27333000-27334000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr9:27333000-27334000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr9:27333000-27334000	Enhancers	Brain Hippocampus Middle	brain
26	chr9:27333000-27334200	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr9:27333000-27334200	Enhancers	Brain Anterior Caudate	brain
28	chr9:27333000-27334200	Enhancers	Brain Cingulate Gyrus	brain
29	chr9:27333000-27334600	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr9:27333000-27334800	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr9:27333200-27334000	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr9:27333200-27334000	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr9:27333200-27334000	Enhancers	Primary B cells from peripheral blood	blood
34	chr9:27333200-27334000	Enhancers	Fetal Kidney	kidney
35	chr9:27333400-27334000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr9:27333400-27334000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr9:27333400-27334000	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr9:27333400-27334000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr9:27333400-27334000	Enhancers	Primary B cells from cord blood	blood
40	chr9:27333400-27334000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr9:27333400-27334000	Enhancers	Aorta	Aorta
42	chr9:27333400-27334000	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr9:27333400-27334000	Enhancers	Colon Smooth Muscle	Colon
44	chr9:27333400-27334000	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr9:27333400-27334000	Enhancers	Fetal Intestine Large	intestine
46	chr9:27333400-27334000	Genic enhancers	Fetal Intestine Small	intestine
47	chr9:27333400-27334000	Enhancers	Fetal Lung	lung
48	chr9:27333400-27334000	Enhancers	Fetal Muscle Trunk	muscle
49	chr9:27333400-27334000	Enhancers	Placenta	Placenta
50	chr9:27333400-27334000	Enhancers	Fetal Stomach	stomach

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