Variant report

Variant	rs56951107
Chromosome Location	chr9:14211151-14211152
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
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]
rs61249449	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:9 , 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
9	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: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	chr9:14206200-14211200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr9:14206200-14211200	Weak transcription	Stomach Mucosa	stomach
16	chr9:14206200-14220000	Weak transcription	NHDF-Ad	bronchial
17	chr9:14206400-14215600	Weak transcription	NHLF	lung
18	chr9:14206600-14212000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr9:14206600-14215800	Weak transcription	Hela-S3	cervix
20	chr9:14206800-14214000	Weak transcription	Placenta	Placenta
21	chr9:14207000-14213400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr9:14207200-14213600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr9:14207600-14211600	Weak transcription	Aorta	Aorta
24	chr9:14207600-14213400	Weak transcription	Brain Germinal Matrix	brain
25	chr9:14207800-14211600	Weak transcription	Fetal Muscle Trunk	muscle
26	chr9:14207800-14211600	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr9:14207800-14213400	Weak transcription	Gastric	stomach
28	chr9:14207800-14216600	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr9:14208000-14211600	Weak transcription	Pancreas	Pancrea
30	chr9:14208000-14213200	Weak transcription	Psoas Muscle	Psoas
31	chr9:14208000-14213400	Weak transcription	Left Ventricle	heart
32	chr9:14208000-14213400	Weak transcription	Lung	lung
33	chr9:14208000-14213400	Weak transcription	Right Ventricle	heart
34	chr9:14208200-14213000	Weak transcription	HepG2	liver
35	chr9:14208200-14213200	Weak transcription	Right Atrium	heart
36	chr9:14208200-14214000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr9:14208600-14212400	Enhancers	Fetal Lung	lung
38	chr9:14208800-14213800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr9:14208800-14221000	Enhancers	Muscle Satellite Cultured Cells	--
40	chr9:14209000-14217400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr9:14209200-14212200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr9:14209200-14213000	Enhancers	NH-A	brain
43	chr9:14209200-14216800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr9:14209400-14211800	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr9:14209400-14212200	Enhancers	Fetal Brain Female	brain
46	chr9:14209400-14213200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr9:14209600-14211400	Weak transcription	Colon Smooth Muscle	Colon
48	chr9:14209600-14214800	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr9:14209800-14211400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr9:14209800-14211400	Weak transcription	NHEK	skin

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