Variant report

Variant	rs61249449
Chromosome Location	chr9:14210739-14210740
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10738354	1.00[EUR][1000 genomes]
rs10756538	1.00[EUR][1000 genomes]
rs12001507	0.84[AFR][1000 genomes]
rs16931458	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2078463	1.00[EUR][1000 genomes]
rs56951107	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7018727	1.00[EUR][1000 genomes]
rs7018901	1.00[EUR][1000 genomes]
rs7018963	1.00[EUR][1000 genomes]
rs7027395	1.00[EUR][1000 genomes]
rs7032410	1.00[EUR][1000 genomes]
rs73411938	1.00[EUR][1000 genomes]
rs73411976	1.00[EUR][1000 genomes]
rs73411989	1.00[EUR][1000 genomes]
rs73413883	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73413895	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73413897	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7853115	1.00[EUR][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	nsv429998	chr9:14043516-14214688	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
7	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
8	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

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14192800-14213400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr9:14199400-14215800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr9:14201200-14220000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr9:14203000-14212000	Weak transcription	Fetal Intestine Small	intestine
5	chr9:14203800-14211600	Weak transcription	HSMMtube	muscle
6	chr9:14203800-14214200	Weak transcription	Brain Substantia Nigra	brain
7	chr9:14203800-14217200	Enhancers	Fetal Heart	heart
8	chr9:14203800-14219000	Weak transcription	Ovary	ovary
9	chr9:14203800-14221800	Weak transcription	Brain Cingulate Gyrus	brain
10	chr9:14204000-14211800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr9:14204000-14213000	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr9:14204000-14221800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr9:14204200-14211600	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr9:14205800-14210800	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr9:14206200-14211200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr9:14206200-14211200	Weak transcription	Stomach Mucosa	stomach
17	chr9:14206200-14220000	Weak transcription	NHDF-Ad	bronchial
18	chr9:14206400-14215600	Weak transcription	NHLF	lung
19	chr9:14206600-14212000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr9:14206600-14215800	Weak transcription	Hela-S3	cervix
21	chr9:14206800-14214000	Weak transcription	Placenta	Placenta
22	chr9:14207000-14213400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr9:14207200-14213600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr9:14207600-14211600	Weak transcription	Aorta	Aorta
25	chr9:14207600-14213400	Weak transcription	Brain Germinal Matrix	brain
26	chr9:14207800-14211600	Weak transcription	Fetal Muscle Trunk	muscle
27	chr9:14207800-14211600	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr9:14207800-14213400	Weak transcription	Gastric	stomach
29	chr9:14207800-14216600	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr9:14208000-14211600	Weak transcription	Pancreas	Pancrea
31	chr9:14208000-14213200	Weak transcription	Psoas Muscle	Psoas
32	chr9:14208000-14213400	Weak transcription	Left Ventricle	heart
33	chr9:14208000-14213400	Weak transcription	Lung	lung
34	chr9:14208000-14213400	Weak transcription	Right Ventricle	heart
35	chr9:14208200-14213000	Weak transcription	HepG2	liver
36	chr9:14208200-14213200	Weak transcription	Right Atrium	heart
37	chr9:14208200-14214000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr9:14208600-14211000	Enhancers	HSMM	muscle
39	chr9:14208600-14212400	Enhancers	Fetal Lung	lung
40	chr9:14208800-14210800	Enhancers	HUVEC	blood vessel
41	chr9:14208800-14213800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr9:14208800-14221000	Enhancers	Muscle Satellite Cultured Cells	--
43	chr9:14209000-14211000	Enhancers	Fetal Brain Male	brain
44	chr9:14209000-14217400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr9:14209200-14210800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr9:14209200-14212200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr9:14209200-14213000	Enhancers	NH-A	brain
48	chr9:14209200-14216800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr9:14209400-14211800	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr9:14209400-14212200	Enhancers	Fetal Brain Female	brain

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