Variant report

Variant	rs4448048
Chromosome Location	chr5:108112521-108112522
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:108083043..108085064-chr5:108112327..108114062,2	K562	blood:

Variant related genes	Relation type
ENSG00000151422	Chromatin interaction

Extended variants
information (count: 151 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:150)

rs_ID	r²[population]
rs10035944	0.89[EUR][1000 genomes]
rs10036583	0.90[CEU][hapmap];0.87[EUR][1000 genomes]
rs10037675	0.90[CEU][hapmap];0.86[EUR][1000 genomes]
rs10039951	0.90[CEU][hapmap];0.86[EUR][1000 genomes]
rs10040085	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10041657	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10041659	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10042152	0.90[CEU][hapmap];0.87[EUR][1000 genomes]
rs10050490	0.86[EUR][1000 genomes]
rs10050547	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10052208	0.90[CEU][hapmap];0.87[EUR][1000 genomes]
rs10052531	0.94[CEU][hapmap];0.89[EUR][1000 genomes]
rs10053476	0.81[AMR][1000 genomes]
rs10054086	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10058035	0.85[EUR][1000 genomes]
rs10061362	0.89[EUR][1000 genomes]
rs10062211	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10064960	0.94[CEU][hapmap];0.89[EUR][1000 genomes]
rs10065611	0.90[CEU][hapmap];0.87[EUR][1000 genomes]
rs10067117	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10070327	1.00[CEU][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10073473	0.81[AMR][1000 genomes]
rs10075620	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10077177	0.81[AMR][1000 genomes]
rs10077917	0.81[AMR][1000 genomes]
rs10078143	0.89[EUR][1000 genomes]
rs10477428	1.00[CEU][hapmap];0.82[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10477429	1.00[CEU][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10477430	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10477432	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10477931	0.90[CEU][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10477932	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10477933	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10477934	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10477935	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12719099	0.81[AMR][1000 genomes]
rs13178668	0.93[ASN][1000 genomes]
rs13354622	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13355571	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13358881	0.90[CEU][hapmap];0.87[EUR][1000 genomes]
rs13359423	0.90[CEU][hapmap];0.87[EUR][1000 genomes]
rs13360253	1.00[CEU][hapmap];0.82[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13360598	0.81[AMR][1000 genomes]
rs1396444	1.00[CEU][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1423459	0.88[CEU][hapmap];0.86[EUR][1000 genomes]
rs17161505	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17161540	0.94[CEU][hapmap];0.90[EUR][1000 genomes]
rs1961616	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2009646	1.00[CEU][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2081127	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2081128	1.00[CEU][hapmap];0.82[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2113001	1.00[CEU][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2229085	0.81[AMR][1000 genomes]
rs28396658	0.81[AMR][1000 genomes]
rs28415902	0.81[AMR][1000 genomes]
rs28460265	0.81[AMR][1000 genomes]
rs28521452	0.86[EUR][1000 genomes]
rs28536717	0.86[EUR][1000 genomes]
rs28611371	0.84[EUR][1000 genomes]
rs28612304	0.86[EUR][1000 genomes]
rs28633642	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28765243	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28862652	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2900036	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2900037	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35141056	0.88[CEU][hapmap];0.89[EUR][1000 genomes]
rs3805598	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3805599	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41508849	0.88[CEU][hapmap];0.86[EUR][1000 genomes]
rs4358573	0.90[CEU][hapmap];0.86[EUR][1000 genomes]
rs4361568	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4479887	1.00[CEU][hapmap];0.94[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4537096	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4560594	0.88[CEU][hapmap];0.86[EUR][1000 genomes]
rs4560595	0.90[CEU][hapmap];0.86[EUR][1000 genomes]
rs5019041	0.87[EUR][1000 genomes]
rs56985651	0.89[EUR][1000 genomes]
rs57561676	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs57703314	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs57719993	0.89[EUR][1000 genomes]
rs57908514	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57928004	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58193244	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs58304901	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58530168	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59297048	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs59821709	0.89[EUR][1000 genomes]
rs60126805	0.86[EUR][1000 genomes]
rs60618804	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61170909	0.86[EUR][1000 genomes]
rs62360777	0.87[EUR][1000 genomes]
rs62360778	0.86[EUR][1000 genomes]
rs62360779	0.85[EUR][1000 genomes]
rs62360783	0.89[EUR][1000 genomes]
rs62360784	0.89[EUR][1000 genomes]
rs62360790	0.89[EUR][1000 genomes]
rs62360791	0.89[EUR][1000 genomes]
rs62360793	0.86[EUR][1000 genomes]
rs62360824	0.86[EUR][1000 genomes]
rs62360827	0.86[EUR][1000 genomes]
rs62361335	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62361336	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62361337	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62361338	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62361341	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62361342	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62361343	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62361344	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62361345	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62363276	0.81[AMR][1000 genomes]
rs62363277	0.81[AMR][1000 genomes]
rs62363280	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62363281	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62363283	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62363284	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62363285	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62363287	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62363289	0.92[EUR][1000 genomes]
rs62363290	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6594341	0.88[CEU][hapmap];0.89[EUR][1000 genomes]
rs6594342	0.89[EUR][1000 genomes]
rs6863046	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6873917	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6874497	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6874773	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6874968	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6875158	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6876542	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6876606	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6881932	0.89[EUR][1000 genomes]
rs6888173	1.00[CEU][hapmap];0.85[YRI][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6889995	0.89[EUR][1000 genomes]
rs6890301	0.89[EUR][1000 genomes]
rs6890309	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6894386	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6897096	0.81[AMR][1000 genomes]
rs6897329	0.81[AMR][1000 genomes]
rs6897572	0.81[AMR][1000 genomes]
rs7715658	1.00[CEU][hapmap];0.92[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7716358	0.89[EUR][1000 genomes]
rs7719821	0.89[CEU][hapmap];0.86[EUR][1000 genomes]
rs7724385	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7728920	1.00[CEU][hapmap];0.93[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs889269	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs9326749	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9326750	0.89[CEU][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9326751	0.86[EUR][1000 genomes]
rs9326752	0.88[CEU][hapmap];0.84[EUR][1000 genomes]
rs9885265	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9885428	0.92[AMR][1000 genomes];0.98[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	nsv882689	chr5:107595383-108299744	Enhancers ZNF genes & repeats Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:108085600-108119800	Weak transcription	Left Ventricle	heart
2	chr5:108086200-108119200	Weak transcription	Fetal Kidney	kidney
3	chr5:108086200-108120600	Weak transcription	Brain Hippocampus Middle	brain
4	chr5:108089800-108119400	Weak transcription	Hela-S3	cervix
5	chr5:108089800-108119800	Weak transcription	HSMM	muscle
6	chr5:108090200-108127600	Weak transcription	NH-A	brain
7	chr5:108095000-108122600	Weak transcription	Right Ventricle	heart
8	chr5:108095600-108119400	Weak transcription	Aorta	Aorta
9	chr5:108096000-108119600	Weak transcription	Primary B cells from cord blood	blood
10	chr5:108096200-108119800	Weak transcription	HSMMtube	muscle
11	chr5:108096400-108112800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr5:108096400-108134000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr5:108096600-108119400	Weak transcription	Primary T cells from cord blood	blood
14	chr5:108098400-108128000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr5:108099200-108114600	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr5:108099200-108119400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr5:108099200-108119400	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr5:108099200-108119800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr5:108099400-108119200	Weak transcription	A549	lung
20	chr5:108099400-108122400	Weak transcription	Brain Cingulate Gyrus	brain
21	chr5:108099600-108117200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr5:108099600-108119400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr5:108100800-108119400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr5:108101400-108113000	Weak transcription	Primary B cells from peripheral blood	blood
25	chr5:108101600-108117600	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr5:108101600-108119600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr5:108101600-108127600	Weak transcription	Osteobl	bone
28	chr5:108101800-108117200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr5:108102600-108119800	Weak transcription	Pancreas	Pancrea
30	chr5:108102800-108119400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr5:108103000-108113000	Weak transcription	NHEK	skin
32	chr5:108103000-108119400	Weak transcription	Lung	lung
33	chr5:108103400-108119600	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr5:108104600-108119200	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr5:108105200-108119600	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr5:108105400-108117200	Weak transcription	Psoas Muscle	Psoas
37	chr5:108105400-108123400	Weak transcription	Brain Anterior Caudate	brain
38	chr5:108105400-108130600	Weak transcription	Rectal Smooth Muscle	rectum
39	chr5:108105400-108133200	Weak transcription	NHDF-Ad	bronchial
40	chr5:108105600-108117600	Weak transcription	Colon Smooth Muscle	Colon
41	chr5:108107000-108119400	Weak transcription	Fetal Stomach	stomach
42	chr5:108108000-108119800	Weak transcription	Stomach Smooth Muscle	stomach
43	chr5:108108600-108114600	Weak transcription	Fetal Lung	lung
44	chr5:108109400-108119400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr5:108110000-108112800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr5:108110000-108113400	Weak transcription	Fetal Intestine Small	intestine
47	chr5:108110000-108116800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr5:108110000-108117400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr5:108110000-108119400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr5:108110000-108119400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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