Variant report

Variant	rs2013173
Chromosome Location	chr5:43447250-43447251
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:43445384..43449437-chr5:43481236..43485004,3	K562	blood:
2	chr5:43444327..43447560-chr5:43451285..43455432,4	K562	blood:

Variant related genes	Relation type
ENSG00000249492	Chromatin interaction
ENSG00000151881	Chromatin interaction

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10036954	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10038608	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10045400	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10045455	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10058558	0.84[EUR][1000 genomes]
rs10061165	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10074682	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10447144	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10462051	0.81[EUR][1000 genomes]
rs10473311	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10941640	0.85[EUR][1000 genomes]
rs12332560	0.80[EUR][1000 genomes]
rs12651879	0.80[EUR][1000 genomes]
rs12659369	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12697452	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13185343	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13189004	0.80[EUR][1000 genomes]
rs1389868	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1389869	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1428640	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2131999	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2132000	0.92[EUR][1000 genomes]
rs2172763	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34007811	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35710460	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35881272	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs36013953	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3776423	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3806870	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4073848	0.89[EUR][1000 genomes]
rs4073850	0.89[EUR][1000 genomes]
rs4073851	0.84[EUR][1000 genomes]
rs4242099	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4308491	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4331909	0.88[EUR][1000 genomes]
rs4367306	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4415083	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4467713	0.83[EUR][1000 genomes]
rs4513704	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4541663	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4576155	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4866746	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4866833	0.86[EUR][1000 genomes]
rs55641556	0.83[EUR][1000 genomes]
rs56400900	0.83[EUR][1000 genomes]
rs57547662	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs57597020	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6451692	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6451693	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6451695	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6451696	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6451698	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6451703	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6451704	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6451706	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6451712	0.81[EUR][1000 genomes]
rs67466542	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6858942	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6859344	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6861704	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6862102	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6865217	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6870018	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6870783	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6883661	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73100614	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs750582	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs750584	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7703662	0.88[AMR][1000 genomes]
rs7707976	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7708369	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7708443	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7717636	0.80[EUR][1000 genomes]
rs7724571	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7731091	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7734393	0.82[EUR][1000 genomes]
rs7735243	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9292883	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9686159	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9885467	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[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	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

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43429400-43460200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:43433200-43454400	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr5:43433200-43460200	Weak transcription	NHLF	lung
4	chr5:43433400-43456000	Weak transcription	Brain Hippocampus Middle	brain
5	chr5:43433600-43452200	Weak transcription	Osteobl	bone
6	chr5:43433800-43483400	Weak transcription	Gastric	stomach
7	chr5:43438400-43451000	Weak transcription	HepG2	liver
8	chr5:43438800-43460600	Weak transcription	NH-A	brain
9	chr5:43440000-43462400	Weak transcription	Colonic Mucosa	Colon
10	chr5:43440800-43466400	Weak transcription	Colon Smooth Muscle	Colon
11	chr5:43440800-43466800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr5:43441600-43466600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr5:43441800-43461000	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr5:43442000-43453400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr5:43442000-43460000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr5:43443000-43448400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr5:43443400-43448000	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr5:43443600-43448400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr5:43443800-43456800	Weak transcription	A549	lung
20	chr5:43443800-43459600	Weak transcription	NHDF-Ad	bronchial
21	chr5:43443800-43460200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr5:43443800-43460200	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr5:43444000-43447800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr5:43444000-43448000	Weak transcription	Brain Germinal Matrix	brain
25	chr5:43444000-43448400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr5:43444000-43449400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr5:43444000-43450200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr5:43444000-43450600	Weak transcription	Liver	Liver
29	chr5:43444000-43453400	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr5:43444000-43456400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr5:43444000-43459800	Weak transcription	Fetal Thymus	thymus
32	chr5:43444000-43460200	Weak transcription	Duodenum Mucosa	Duodenum
33	chr5:43444000-43460200	Weak transcription	HSMMtube	muscle
34	chr5:43444000-43460200	Weak transcription	K562	blood
35	chr5:43444000-43460200	Weak transcription	NHEK	skin
36	chr5:43444000-43461400	Weak transcription	Spleen	Spleen
37	chr5:43444000-43463600	Weak transcription	Stomach Smooth Muscle	stomach
38	chr5:43444000-43464400	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr5:43444000-43467000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr5:43444000-43467000	Weak transcription	Left Ventricle	heart
41	chr5:43444000-43482600	Weak transcription	HMEC	breast
42	chr5:43444200-43455600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr5:43444200-43460200	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr5:43444200-43467000	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr5:43444200-43472600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr5:43444400-43449800	Weak transcription	Esophagus	oesophagus
47	chr5:43444400-43451400	Weak transcription	Psoas Muscle	Psoas
48	chr5:43444400-43460200	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr5:43444400-43463800	Weak transcription	Small Intestine	intestine
50	chr5:43444600-43448200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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