Variant report

Variant	rs58589942
Chromosome Location	chr9:14217068-14217069
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:14207480..14210173-chr9:14216530..14218374,2	MCF-7	breast:
2	chr9:14214360..14220386-chr9:14311987..14316578,6	MCF-7	breast:
3	chr9:14211963..14213596-chr9:14216891..14219507,2	K562	blood:
4	chr9:14215028..14217662-chr9:14219597..14221108,2	K562	blood:

Variant related genes	Relation type
ENSG00000147862	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs73645010	1.00[AFR][1000 genomes]
rs73645011	1.00[AFR][1000 genomes]
rs73645014	1.00[AFR][1000 genomes]
rs73645015	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033764	chr9:13764918-14226168	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv892593	chr9:13948798-14233159	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv1023303	chr9:14025605-14286269	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv540069	chr9:14025605-14286269	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv1029491	chr9:14033607-14942373	Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv892597	chr9:14163383-14233159	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv915804	chr9:14182608-14903050	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv916811	chr9:14210978-14542068	Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14201200-14220000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr9:14203800-14217200	Enhancers	Fetal Heart	heart
3	chr9:14203800-14219000	Weak transcription	Ovary	ovary
4	chr9:14203800-14221800	Weak transcription	Brain Cingulate Gyrus	brain
5	chr9:14204000-14221800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr9:14206200-14220000	Weak transcription	NHDF-Ad	bronchial
7	chr9:14208800-14221000	Enhancers	Muscle Satellite Cultured Cells	--
8	chr9:14209000-14217400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr9:14209800-14221000	Weak transcription	Fetal Stomach	stomach
10	chr9:14209800-14223200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr9:14210000-14218000	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr9:14210000-14218000	Weak transcription	Rectal Smooth Muscle	rectum
13	chr9:14210000-14218200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr9:14210200-14218000	Weak transcription	Brain Angular Gyrus	brain
15	chr9:14210400-14218400	Weak transcription	Brain Hippocampus Middle	brain
16	chr9:14211800-14222200	Weak transcription	Fetal Muscle Trunk	muscle
17	chr9:14212000-14220600	Weak transcription	Fetal Brain Male	brain
18	chr9:14212200-14218400	Weak transcription	HSMMtube	muscle
19	chr9:14212200-14221800	Weak transcription	Brain Anterior Caudate	brain
20	chr9:14214000-14218000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr9:14214000-14218600	Weak transcription	Brain Germinal Matrix	brain
22	chr9:14214000-14220000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr9:14214200-14218000	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr9:14214200-14218400	Weak transcription	Colonic Mucosa	Colon
25	chr9:14214200-14222600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr9:14214200-14222600	Enhancers	Osteobl	bone
27	chr9:14214400-14218000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr9:14214400-14218000	Weak transcription	Stomach Mucosa	stomach
29	chr9:14214400-14218400	Weak transcription	Aorta	Aorta
30	chr9:14214400-14220000	Weak transcription	Placenta	Placenta
31	chr9:14214400-14220800	Weak transcription	Lung	lung
32	chr9:14214400-14221000	Weak transcription	Gastric	stomach
33	chr9:14214400-14221200	Weak transcription	Fetal Brain Female	brain
34	chr9:14214400-14222200	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr9:14214600-14217800	Weak transcription	Adipose Nuclei	Adipose
36	chr9:14214600-14218000	Weak transcription	Colon Smooth Muscle	Colon
37	chr9:14214600-14218000	Weak transcription	Fetal Muscle Leg	muscle
38	chr9:14214600-14218000	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr9:14214600-14218200	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr9:14214800-14217800	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr9:14214800-14218800	Weak transcription	Stomach Smooth Muscle	stomach
42	chr9:14215000-14218000	Weak transcription	Psoas Muscle	Psoas
43	chr9:14215000-14221000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr9:14216000-14218200	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr9:14216000-14218400	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr9:14216000-14218400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr9:14216200-14219600	Weak transcription	HSMM	muscle
48	chr9:14216200-14221600	Enhancers	HUVEC	blood vessel
49	chr9:14216400-14220400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr9:14216400-14220600	Weak transcription	NHLF	lung

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