Variant report

Variant	rs10448195
Chromosome Location	chr9:17154345-17154346
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10962907	0.88[ASN][1000 genomes]
rs10962944	0.82[ASN][1000 genomes]
rs10962949	0.85[ASN][1000 genomes]
rs10962956	0.82[ASN][1000 genomes]
rs10962958	0.82[ASN][1000 genomes]
rs10962959	0.85[ASN][1000 genomes]
rs11523726	0.82[ASN][1000 genomes]
rs11789418	0.85[ASN][1000 genomes]
rs11791463	0.85[ASN][1000 genomes]
rs12378540	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13289755	0.82[ASN][1000 genomes]
rs13292365	0.85[ASN][1000 genomes]
rs13292380	0.85[ASN][1000 genomes]
rs34189605	0.82[ASN][1000 genomes]
rs34597155	0.85[ASN][1000 genomes]
rs62558297	0.85[ASN][1000 genomes]
rs62558300	0.82[ASN][1000 genomes]
rs62558301	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024799	chr9:16631890-17431827	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	esv2764141	chr9:16903446-17351711	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv892657	chr9:17008137-17223492	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv892658	chr9:17041557-17532840	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv1023525	chr9:17121773-17236072	Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	nsv892659	chr9:17130360-17236376	Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
7	nsv892660	chr9:17134245-17269437	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
8	nsv892661	chr9:17134245-17532840	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
9	nsv428537	chr9:17146369-17308494	Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv613693	chr9:17147191-17710407	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 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	chr9:17135800-17155200	Weak transcription	Spleen	Spleen
2	chr9:17136000-17155200	Weak transcription	Fetal Intestine Large	intestine
3	chr9:17136000-17161000	Weak transcription	Psoas Muscle	Psoas
4	chr9:17136200-17154600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr9:17136200-17155200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr9:17136200-17157600	Weak transcription	Fetal Thymus	thymus
7	chr9:17136200-17159200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr9:17136200-17159600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr9:17136400-17154800	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr9:17136400-17156600	Weak transcription	NHLF	lung
11	chr9:17136400-17159000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr9:17136400-17163800	Weak transcription	Colon Smooth Muscle	Colon
13	chr9:17136400-17164200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr9:17136600-17154400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr9:17136600-17154800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr9:17136800-17159000	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr9:17137800-17160400	Weak transcription	Hela-S3	cervix
18	chr9:17144200-17155000	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr9:17144400-17154400	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr9:17146200-17167200	Weak transcription	Gastric	stomach
21	chr9:17146400-17155000	Weak transcription	A549	lung
22	chr9:17146600-17155600	Weak transcription	Brain Hippocampus Middle	brain
23	chr9:17146600-17159200	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr9:17146600-17160000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr9:17147400-17155000	Weak transcription	Left Ventricle	heart
26	chr9:17148600-17157600	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr9:17148600-17159000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr9:17148800-17154400	Weak transcription	Ovary	ovary
29	chr9:17148800-17155000	Weak transcription	Adipose Nuclei	Adipose
30	chr9:17148800-17155200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr9:17148800-17155200	Weak transcription	Stomach Smooth Muscle	stomach
32	chr9:17148800-17157000	Weak transcription	Fetal Heart	heart
33	chr9:17148800-17157800	Weak transcription	Osteobl	bone
34	chr9:17148800-17159400	Weak transcription	Fetal Kidney	kidney
35	chr9:17148800-17167400	Weak transcription	Dnd41	blood
36	chr9:17149000-17154400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr9:17149000-17154400	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr9:17149200-17154400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr9:17149200-17158000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr9:17149400-17167400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr9:17151200-17154400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr9:17152400-17155400	Weak transcription	Aorta	Aorta
43	chr9:17153200-17154400	Weak transcription	Brain Germinal Matrix	brain
44	chr9:17153200-17158200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr9:17153400-17155200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr9:17153400-17155600	Weak transcription	Brain Substantia Nigra	brain
47	chr9:17153400-17156200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr9:17153800-17155200	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr9:17153800-17155400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr9:17153800-17156200	ZNF genes & repeats	Primary hematopoietic stem cells	blood

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