Variant report

Variant	rs17499502
Chromosome Location	chr2:172605130-172605131
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:172605047..172606818-chr2:172749585..172751581,2	K562	blood:
2	chr2:172578698..172580844-chr2:172604273..172606740,2	MCF-7	breast:
3	chr2:172604178..172605682-chr2:172607338..172610243,2	K562	blood:
4	chr2:172599628..172601946-chr2:172603604..172606469,3	K562	blood:

Variant related genes	Relation type
ENSG00000115840	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11673831	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11675404	1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs11675891	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12991441	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13016580	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13017695	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13021138	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13024662	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1554259	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17427311	1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17427473	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17499306	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17848721	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1996424	1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2138349	1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2357062	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34108287	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34221876	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34632749	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34962243	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35162284	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3770459	1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62182397	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs62182402	0.83[AMR][1000 genomes]
rs62184174	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72889853	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs74173119	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs979955	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834457	chr2:172564939-172770901	Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172545200-172611200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:172559600-172605200	Weak transcription	Colonic Mucosa	Colon
3	chr2:172564200-172610000	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr2:172569000-172618600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr2:172569800-172611400	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr2:172579800-172611200	Strong transcription	Adipose Nuclei	Adipose
7	chr2:172580200-172611200	Strong transcription	Placenta	Placenta
8	chr2:172580400-172610600	Strong transcription	Fetal Thymus	thymus
9	chr2:172580400-172611400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:172580400-172611400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr2:172581800-172608600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr2:172581800-172611600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr2:172584200-172605400	Strong transcription	Fetal Muscle Leg	muscle
14	chr2:172586800-172612000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr2:172587800-172640800	Weak transcription	Psoas Muscle	Psoas
16	chr2:172588400-172617000	Weak transcription	Spleen	Spleen
17	chr2:172588400-172617400	Weak transcription	Gastric	stomach
18	chr2:172588400-172619800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:172588800-172617400	Weak transcription	Pancreas	Pancrea
20	chr2:172589200-172608400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr2:172589600-172617200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr2:172591000-172611400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr2:172591800-172606000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr2:172593200-172645000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr2:172593400-172605800	Strong transcription	Fetal Intestine Large	intestine
26	chr2:172595400-172605400	Weak transcription	Brain Hippocampus Middle	brain
27	chr2:172595400-172619000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr2:172595600-172607400	Weak transcription	Fetal Intestine Small	intestine
29	chr2:172595600-172615600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr2:172596400-172605800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr2:172596400-172605800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr2:172596400-172606200	Strong transcription	Liver	Liver
33	chr2:172596400-172610400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr2:172596400-172611200	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr2:172596400-172615200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr2:172596600-172606400	Strong transcription	NHEK	skin
37	chr2:172596600-172610600	Strong transcription	Muscle Satellite Cultured Cells	--
38	chr2:172596600-172611400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr2:172596800-172610600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr2:172597000-172611200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr2:172597400-172611400	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr2:172597400-172611800	Strong transcription	Fetal Lung	lung
43	chr2:172597600-172606400	Strong transcription	HUES6 Cell Line	embryonic stem cell
44	chr2:172597600-172611000	Strong transcription	Cortex derived primary cultured neurospheres	brain
45	chr2:172597600-172611200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr2:172597600-172611400	Strong transcription	Duodenum Mucosa	Duodenum
47	chr2:172597800-172607400	Strong transcription	Primary T helper cells PMA-I stimulated	--
48	chr2:172597800-172610400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr2:172598000-172605800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr2:172598000-172605800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--

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