Variant report

Variant	rs13360905
Chromosome Location	chr5:43647763-43647764
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:43646050..43649875-chr5:43653093..43656688,3	K562	blood:
2	chr5:43643698..43645571-chr5:43647494..43649590,2	K562	blood:
3	chr5:43647136..43648796-chr5:43650713..43652792,2	K562	blood:

Variant related genes	Relation type
ENSG00000112992	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10050559	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10051788	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10052717	1.00[ASN][1000 genomes]
rs10054154	1.00[ASN][1000 genomes]
rs10054206	1.00[ASN][1000 genomes]
rs10058837	1.00[ASN][1000 genomes]
rs10065095	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10472385	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10473316	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10473317	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs13165656	0.83[AFR][1000 genomes]
rs13183238	0.82[AFR][1000 genomes]
rs13355686	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs13358229	1.00[ASN][1000 genomes]
rs13360656	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs28629332	1.00[ASN][1000 genomes]
rs55912106	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58623090	1.00[ASN][1000 genomes]
rs59661208	1.00[ASN][1000 genomes]
rs59750428	1.00[ASN][1000 genomes]
rs60376053	1.00[ASN][1000 genomes]
rs6874715	1.00[EUR][1000 genomes]
rs6897781	1.00[EUR][1000 genomes]
rs73751779	1.00[ASN][1000 genomes]
rs73751782	1.00[ASN][1000 genomes]
rs73751784	1.00[ASN][1000 genomes]
rs73751785	1.00[ASN][1000 genomes]
rs73751786	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73751787	1.00[ASN][1000 genomes]
rs73751789	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73751792	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73751793	1.00[ASN][1000 genomes]
rs73751795	1.00[ASN][1000 genomes]
rs73751797	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73751798	1.00[ASN][1000 genomes]
rs73753604	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7701080	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7702908	1.00[ASN][1000 genomes]
rs7709214	1.00[EUR][1000 genomes]
rs7718532	1.00[EUR][1000 genomes]
rs7719138	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7732460	1.00[CHB][hapmap]
rs7736333	1.00[EUR][1000 genomes]
rs7736896	1.00[EUR][1000 genomes]
rs9292888	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9292889	1.00[ASN][1000 genomes]
rs9654395	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9688104	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv881017	chr5:43444826-43731692	Weak transcription Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	222 gene(s)	inside rSNPs	diseases
2	nsv881108	chr5:43527432-43800333	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43604400-43649200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr5:43604400-43649200	Weak transcription	Esophagus	oesophagus
3	chr5:43604400-43660600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:43604600-43649800	Weak transcription	Colonic Mucosa	Colon
5	chr5:43604800-43649800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr5:43605000-43656000	Weak transcription	Small Intestine	intestine
7	chr5:43606800-43648200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr5:43610800-43649400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr5:43612600-43649400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr5:43616000-43648200	Weak transcription	HepG2	liver
11	chr5:43620200-43650600	Weak transcription	Placenta	Placenta
12	chr5:43621200-43650200	Weak transcription	NHEK	skin
13	chr5:43621600-43651800	Weak transcription	HMEC	breast
14	chr5:43621800-43667400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr5:43622200-43648200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr5:43624200-43649200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr5:43630200-43648800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr5:43630200-43658800	Weak transcription	Stomach Mucosa	stomach
19	chr5:43631600-43649200	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr5:43631600-43651400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr5:43631600-43664200	Weak transcription	A549	lung
22	chr5:43633000-43649200	Weak transcription	Ovary	ovary
23	chr5:43633800-43648600	Weak transcription	Fetal Stomach	stomach
24	chr5:43634200-43648400	Weak transcription	HUVEC	blood vessel
25	chr5:43635000-43650000	Weak transcription	K562	blood
26	chr5:43635200-43648000	Weak transcription	Fetal Lung	lung
27	chr5:43635600-43649000	Weak transcription	Brain Germinal Matrix	brain
28	chr5:43635800-43647800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr5:43635800-43648400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr5:43635800-43648400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr5:43635800-43648600	Weak transcription	HSMMtube	muscle
32	chr5:43635800-43649200	Weak transcription	Pancreas	Pancrea
33	chr5:43636000-43648200	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr5:43636000-43648600	Weak transcription	Spleen	Spleen
35	chr5:43636400-43649600	Weak transcription	NHLF	lung
36	chr5:43636400-43664200	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr5:43636600-43648600	Weak transcription	Rectal Smooth Muscle	rectum
38	chr5:43637800-43649200	Weak transcription	Aorta	Aorta
39	chr5:43637800-43649800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr5:43638000-43648000	Weak transcription	Thymus	Thymus
41	chr5:43638200-43648400	Weak transcription	Lung	lung
42	chr5:43638200-43659200	Weak transcription	Colon Smooth Muscle	Colon
43	chr5:43639200-43665400	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr5:43640000-43665400	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr5:43640400-43647800	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr5:43642400-43648400	Weak transcription	Right Ventricle	heart
47	chr5:43642400-43648600	Weak transcription	Gastric	stomach
48	chr5:43642600-43649400	Weak transcription	Fetal Heart	heart
49	chr5:43642800-43648000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr5:43642800-43648200	Weak transcription	Brain Anterior Caudate	brain

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