Variant report

Variant	rs1383981
Chromosome Location	chr4:54184683-54184684
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	chr4:54184058..54186336-chr4:54222411..54224746,2	K562	blood:
2	chr4:54181996..54184971-chr4:54188606..54191162,2	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10014030	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11133257	0.83[CEU][hapmap]
rs11133258	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11721940	0.95[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs11724062	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11724781	0.84[CEU][hapmap];0.82[EUR][1000 genomes]
rs11725172	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.90[TSI][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11942132	0.81[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs12715997	0.83[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs13130337	0.95[CHB][hapmap];0.89[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap]
rs1383983	0.83[CEU][hapmap]
rs1481818	0.83[CEU][hapmap]
rs1842658	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1871826	0.83[CEU][hapmap]
rs2200051	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2412403	0.87[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs2412404	0.82[ASW][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.86[JPT][hapmap];0.87[LWK][hapmap];0.91[MEX][hapmap];0.80[MKK][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs28832663	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34426398	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4328970	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4472196	0.83[CEU][hapmap]
rs4571396	0.81[CEU][hapmap]
rs4588514	0.88[ASW][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];0.82[JPT][hapmap];0.98[LWK][hapmap];0.91[MEX][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap];0.81[ASN][1000 genomes]
rs4864749	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4864752	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs62324286	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6554071	0.88[ASW][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];0.86[JPT][hapmap];0.98[LWK][hapmap];0.91[MEX][hapmap];0.96[MKK][hapmap];1.00[YRI][hapmap]
rs6554074	0.81[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs6554078	0.81[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs6554089	0.83[CEU][hapmap]
rs6554091	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6554092	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6554093	0.92[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.90[TSI][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6821113	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6852852	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6856562	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6857744	0.82[EUR][1000 genomes]
rs751266	0.81[CEU][hapmap];0.81[EUR][1000 genomes]
rs7655632	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7657388	0.83[CEU][hapmap]
rs7658384	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7673864	0.81[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs7682970	0.83[CEU][hapmap]
rs7683984	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs900110	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs922748	0.83[CEU][hapmap]
rs9759746	0.81[EUR][1000 genomes]
rs9990771	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9991945	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9998376	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[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	nsv1008593	chr4:54120297-54207769	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:54168200-54188000	Weak transcription	Left Ventricle	heart
2	chr4:54169200-54187800	Weak transcription	Liver	Liver
3	chr4:54169400-54187400	Weak transcription	Dnd41	blood
4	chr4:54169600-54187800	Weak transcription	Brain Angular Gyrus	brain
5	chr4:54169800-54187800	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr4:54169800-54216200	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr4:54170000-54186800	Weak transcription	HSMM	muscle
8	chr4:54170600-54187600	Weak transcription	K562	blood
9	chr4:54170600-54230600	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr4:54171200-54188000	Weak transcription	Esophagus	oesophagus
11	chr4:54171600-54187600	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr4:54172000-54188000	Weak transcription	Pancreas	Pancrea
13	chr4:54172000-54188000	Weak transcription	HepG2	liver
14	chr4:54172600-54215400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr4:54173000-54187600	Weak transcription	Brain Anterior Caudate	brain
16	chr4:54173400-54186800	Weak transcription	NH-A	brain
17	chr4:54174200-54187200	Weak transcription	Adipose Nuclei	Adipose
18	chr4:54174200-54187400	Weak transcription	A549	lung
19	chr4:54174200-54212600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr4:54174800-54187400	Weak transcription	Primary hematopoietic stem cells	blood
21	chr4:54175800-54188000	Weak transcription	Ovary	ovary
22	chr4:54176400-54186200	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr4:54176400-54186200	Weak transcription	NHLF	lung
24	chr4:54176400-54187400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr4:54176600-54185800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr4:54176600-54187400	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr4:54179800-54187200	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr4:54179800-54187200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr4:54180000-54193200	Weak transcription	GM12878-XiMat	blood
30	chr4:54180000-54212800	Weak transcription	Primary B cells from cord blood	blood
31	chr4:54181800-54186000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr4:54181800-54186000	Weak transcription	Osteobl	bone
33	chr4:54182000-54184800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr4:54182000-54186400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr4:54182000-54186800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr4:54182000-54187200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr4:54182000-54187200	Weak transcription	Fetal Lung	lung
38	chr4:54182000-54188000	Weak transcription	Duodenum Mucosa	Duodenum
39	chr4:54182200-54185400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr4:54182200-54186200	Weak transcription	Hela-S3	cervix
41	chr4:54182200-54187200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr4:54182200-54187400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr4:54182200-54187400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr4:54182200-54187600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr4:54182200-54187600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr4:54182200-54187600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr4:54182400-54187400	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr4:54182400-54187400	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr4:54182400-54187600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr4:54182400-54187800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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