Variant report

Variant	rs73645016
Chromosome Location	chr9:14220918-14220919
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:14218690..14221524-chr9:14235018..14237230,2	MCF-7	breast:
2	chr9:14213715..14216528-chr9:14218687..14222056,3	K562	blood:
3	chr9:14220500..14222113-chr9:14225343..14228147,2	MCF-7	breast:
4	chr9:14215028..14217662-chr9:14219597..14221108,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10961424	0.85[AFR][1000 genomes]
rs10961426	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12004290	0.83[AFR][1000 genomes]
rs12340584	0.89[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs12682686	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs12682915	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12683997	0.81[AMR][1000 genomes]
rs16923133	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs16923134	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs4741346	0.86[AFR][1000 genomes]
rs62532551	0.83[AFR][1000 genomes]
rs73645013	0.88[AFR][1000 genomes];0.90[AMR][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:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14203800-14221800	Weak transcription	Brain Cingulate Gyrus	brain
2	chr9:14204000-14221800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr9:14208800-14221000	Enhancers	Muscle Satellite Cultured Cells	--
4	chr9:14209800-14221000	Weak transcription	Fetal Stomach	stomach
5	chr9:14209800-14223200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr9:14211800-14222200	Weak transcription	Fetal Muscle Trunk	muscle
7	chr9:14212200-14221800	Weak transcription	Brain Anterior Caudate	brain
8	chr9:14214200-14222600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr9:14214200-14222600	Enhancers	Osteobl	bone
10	chr9:14214400-14221000	Weak transcription	Gastric	stomach
11	chr9:14214400-14221200	Weak transcription	Fetal Brain Female	brain
12	chr9:14214400-14222200	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr9:14215000-14221000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr9:14216200-14221600	Enhancers	HUVEC	blood vessel
15	chr9:14217000-14221000	Weak transcription	Liver	Liver
16	chr9:14217000-14221000	Enhancers	A549	lung
17	chr9:14217600-14221600	Enhancers	Fetal Heart	heart
18	chr9:14217600-14222400	Enhancers	Fetal Lung	lung
19	chr9:14217800-14222200	Enhancers	Adipose Nuclei	Adipose
20	chr9:14218000-14222200	Enhancers	Fetal Muscle Leg	muscle
21	chr9:14218000-14222200	Enhancers	Rectal Smooth Muscle	rectum
22	chr9:14218000-14222600	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr9:14218000-14222600	Enhancers	Colon Smooth Muscle	Colon
24	chr9:14218000-14222600	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr9:14218400-14222400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr9:14218400-14222400	Enhancers	HSMMtube	muscle
27	chr9:14218600-14221600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr9:14218600-14221600	Weak transcription	Stomach Mucosa	stomach
29	chr9:14218800-14221800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr9:14218800-14221800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr9:14218800-14221800	Weak transcription	Brain Hippocampus Middle	brain
32	chr9:14218800-14222400	Enhancers	Stomach Smooth Muscle	stomach
33	chr9:14219000-14221000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr9:14219000-14221600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr9:14219000-14221800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr9:14219000-14222000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr9:14219000-14222000	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr9:14219000-14222400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr9:14219200-14221600	Weak transcription	Small Intestine	intestine
40	chr9:14219400-14222000	Enhancers	Brain Germinal Matrix	brain
41	chr9:14219600-14221000	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr9:14219600-14222400	Enhancers	HSMM	muscle
43	chr9:14219800-14221400	Enhancers	NH-A	brain
44	chr9:14219800-14222400	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr9:14219800-14222600	Enhancers	Psoas Muscle	Psoas
46	chr9:14219800-14222600	Enhancers	HMEC	breast
47	chr9:14219800-14222800	Enhancers	Right Ventricle	heart
48	chr9:14220000-14221600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr9:14220000-14221800	Enhancers	Aorta	Aorta
50	chr9:14220000-14222400	Enhancers	Placenta	Placenta

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