Variant report

Variant	rs17365299
Chromosome Location	chr2:10943662-10943663
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:10928919..10935685-chr2:10937600..10943816,9	K562	blood:
2	chr2:10942788..10944367-chr2:10946747..10949659,2	K562	blood:
3	chr2:10931309..10945449-chr2:10946731..10956927,22	K562	blood:

Variant related genes	Relation type
ENSG00000238962	Chromatin interaction
ENSG00000143870	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10182400	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10192112	0.85[CEU][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10197595	1.00[CEU][hapmap];0.90[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10200007	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10520049	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11489	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs11885932	0.87[EUR][1000 genomes]
rs12617247	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12617440	1.00[CEU][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13404780	1.00[CEU][hapmap];0.90[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1387568	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17364770	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17364812	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17365015	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17455729	1.00[ASW][hapmap];1.00[CEU][hapmap];0.93[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17455876	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2357816	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3856467	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6432144	1.00[CHD][hapmap]
rs6714903	0.93[EUR][1000 genomes]
rs6718547	0.93[EUR][1000 genomes]
rs6722515	1.00[CEU][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6733037	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6756520	1.00[CEU][hapmap];0.97[GIH][hapmap];0.90[EUR][1000 genomes]
rs73174526	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7561135	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7570179	0.97[EUR][1000 genomes];1.00[ASN][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	nsv1000731	chr2:10758657-10943882	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10915600-10950400	Weak transcription	Right Atrium	heart
2	chr2:10916600-10943800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
3	chr2:10917800-10944400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:10919600-10943800	Strong transcription	HUES6 Cell Line	embryonic stem cell
5	chr2:10924600-10944400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr2:10929400-10951000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:10933400-10948600	Weak transcription	Pancreas	Pancrea
8	chr2:10935400-10948200	Weak transcription	Stomach Mucosa	stomach
9	chr2:10935600-10943800	Strong transcription	Duodenum Mucosa	Duodenum
10	chr2:10936000-10948400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr2:10936000-10950400	Weak transcription	Gastric	stomach
12	chr2:10936600-10947200	Weak transcription	Small Intestine	intestine
13	chr2:10937200-10951000	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr2:10937600-10950400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr2:10937600-10950400	Weak transcription	Fetal Brain Male	brain
16	chr2:10937600-10951000	Weak transcription	Esophagus	oesophagus
17	chr2:10937800-10947000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr2:10937800-10949400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr2:10937800-10950000	Weak transcription	Fetal Heart	heart
20	chr2:10938200-10950800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr2:10939400-10943800	Strong transcription	K562	blood
22	chr2:10941400-10948400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr2:10941400-10951000	Weak transcription	Aorta	Aorta
24	chr2:10941400-10951400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr2:10941600-10948400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr2:10941600-10950400	Weak transcription	Right Ventricle	heart
27	chr2:10941800-10950200	Weak transcription	Fetal Kidney	kidney
28	chr2:10941800-10951400	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr2:10942000-10948000	Weak transcription	Fetal Brain Female	brain
30	chr2:10942000-10948400	Weak transcription	Ovary	ovary
31	chr2:10942000-10948400	Weak transcription	Stomach Smooth Muscle	stomach
32	chr2:10942000-10950200	Weak transcription	HSMMtube	muscle
33	chr2:10942000-10950400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr2:10942000-10950400	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr2:10942200-10947400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr2:10942200-10947400	Weak transcription	Brain Angular Gyrus	brain
37	chr2:10942200-10947800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr2:10942200-10947800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr2:10942200-10948200	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr2:10942200-10948400	Weak transcription	Brain Anterior Caudate	brain
41	chr2:10942200-10949400	Weak transcription	Rectal Smooth Muscle	rectum
42	chr2:10942200-10950200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr2:10942200-10950200	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr2:10942200-10950200	Weak transcription	Adipose Nuclei	Adipose
45	chr2:10942200-10950200	Weak transcription	NHDF-Ad	bronchial
46	chr2:10942200-10950400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr2:10942200-10950400	Weak transcription	Colon Smooth Muscle	Colon
48	chr2:10942200-10950400	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr2:10942200-10950400	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr2:10942200-10951000	Weak transcription	Spleen	Spleen

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