Variant report

Variant	rs16935348
Chromosome Location	chr9:17138777-17138778
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs13286174	1.00[EUR][1000 genomes]
rs16935344	0.92[AFR][1000 genomes]
rs16935368	0.85[AFR][1000 genomes]
rs16935377	1.00[EUR][1000 genomes]
rs16935382	1.00[EUR][1000 genomes]
rs16935390	1.00[EUR][1000 genomes]
rs16935395	1.00[EUR][1000 genomes]
rs16935397	1.00[EUR][1000 genomes]
rs16935399	1.00[EUR][1000 genomes]
rs57907512	1.00[EUR][1000 genomes]
rs58091700	1.00[EUR][1000 genomes]
rs59211421	1.00[EUR][1000 genomes]
rs59274061	1.00[EUR][1000 genomes]
rs59305778	1.00[EUR][1000 genomes]
rs59433459	1.00[EUR][1000 genomes]
rs59453259	1.00[EUR][1000 genomes]
rs59698728	1.00[EUR][1000 genomes]
rs59700619	1.00[EUR][1000 genomes]
rs60401056	1.00[EUR][1000 genomes]
rs60503811	1.00[EUR][1000 genomes]
rs60546162	1.00[EUR][1000 genomes]
rs61562344	1.00[EUR][1000 genomes]
rs7020252	1.00[EUR][1000 genomes]
rs7024284	1.00[EUR][1000 genomes]
rs7025130	1.00[EUR][1000 genomes]
rs7025248	1.00[EUR][1000 genomes]
rs7025329	1.00[EUR][1000 genomes]
rs7029226	1.00[EUR][1000 genomes]
rs7036370	1.00[EUR][1000 genomes]
rs7037203	1.00[EUR][1000 genomes]
rs7847317	1.00[EUR][1000 genomes]
rs7847327	1.00[EUR][1000 genomes]
rs7856183	1.00[EUR][1000 genomes]
rs7856549	1.00[EUR][1000 genomes]
rs7861471	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	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

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:17135600-17144600	Weak transcription	Small Intestine	intestine
2	chr9:17135800-17141000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr9:17135800-17154200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr9:17135800-17155200	Weak transcription	Spleen	Spleen
5	chr9:17136000-17139800	Weak transcription	Pancreas	Pancrea
6	chr9:17136000-17147000	Weak transcription	Left Ventricle	heart
7	chr9:17136000-17155200	Weak transcription	Fetal Intestine Large	intestine
8	chr9:17136000-17161000	Weak transcription	Psoas Muscle	Psoas
9	chr9:17136200-17140400	Weak transcription	Fetal Intestine Small	intestine
10	chr9:17136200-17145000	Weak transcription	HSMM	muscle
11	chr9:17136200-17145600	Weak transcription	Fetal Muscle Leg	muscle
12	chr9:17136200-17146400	Weak transcription	Fetal Muscle Trunk	muscle
13	chr9:17136200-17148000	Weak transcription	Fetal Kidney	kidney
14	chr9:17136200-17148200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr9:17136200-17148200	Weak transcription	Stomach Smooth Muscle	stomach
16	chr9:17136200-17148400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr9:17136200-17152600	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr9:17136200-17154600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr9:17136200-17155200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr9:17136200-17157600	Weak transcription	Fetal Thymus	thymus
21	chr9:17136200-17159200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr9:17136200-17159600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr9:17136400-17139800	Weak transcription	Fetal Stomach	stomach
24	chr9:17136400-17140200	Weak transcription	Ovary	ovary
25	chr9:17136400-17143200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr9:17136400-17143600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr9:17136400-17143600	Weak transcription	Primary hematopoietic stem cells	blood
28	chr9:17136400-17143600	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr9:17136400-17145200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr9:17136400-17145400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr9:17136400-17145400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr9:17136400-17145400	Weak transcription	NHEK	skin
33	chr9:17136400-17145600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr9:17136400-17145600	Weak transcription	Adipose Nuclei	Adipose
35	chr9:17136400-17146600	Weak transcription	HUVEC	blood vessel
36	chr9:17136400-17148000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr9:17136400-17148000	Weak transcription	Osteobl	bone
38	chr9:17136400-17148200	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr9:17136400-17148400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr9:17136400-17151800	Weak transcription	NH-A	brain
41	chr9:17136400-17154800	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr9:17136400-17156600	Weak transcription	NHLF	lung
43	chr9:17136400-17159000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr9:17136400-17163800	Weak transcription	Colon Smooth Muscle	Colon
45	chr9:17136400-17164200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr9:17136600-17144800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr9:17136600-17146200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr9:17136600-17148400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr9:17136600-17154400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr9:17136600-17154800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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