Variant report

Variant	rs10060390
Chromosome Location	chr5:127452947-127452948
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	chr5:127447046..127449842-chr5:127451576..127454099,2	K562	blood:

Extended variants
information (count: 99 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:98)

rs_ID	r²[population]
rs10045113	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10045307	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10057122	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10059867	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10060181	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10061367	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10064098	0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10064357	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10089	1.00[CEU][hapmap];0.91[JPT][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1012851	0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10223203	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1036171	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10463838	1.00[CEU][hapmap];0.84[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10463839	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10478796	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10478798	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10478803	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10519973	0.84[CHB][hapmap]
rs10519974	0.84[CHB][hapmap]
rs11957052	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13355233	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13356473	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13357268	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13358455	0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1368270	0.89[CHB][hapmap]
rs1432614	0.95[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[YRI][hapmap];0.91[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1432615	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1559263	1.00[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1560636	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17164310	1.00[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17164427	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs17764954	1.00[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1842006	1.00[CEU][hapmap];0.88[CHB][hapmap];0.84[JPT][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1864922	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1864923	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1962291	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1985268	0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2016015	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2054444	1.00[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2190797	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2228112	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2409109	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2898096	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3087889	1.00[CEU][hapmap];0.91[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3792866	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3805604	0.84[CHB][hapmap]
rs3805606	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3805607	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3805612	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3805615	1.00[CEU][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3816006	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4835940	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4835941	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4835942	0.84[CHB][hapmap]
rs4835943	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4835944	1.00[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4835945	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4836358	0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4836359	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4836360	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4836361	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4836362	0.84[CHB][hapmap]
rs4836363	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4836365	0.84[CHB][hapmap]
rs4836366	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4836367	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4836368	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4836369	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4836370	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56066100	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58433932	0.86[AMR][1000 genomes]
rs59484271	0.87[EUR][1000 genomes]
rs60964984	0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs62373701	0.91[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6595798	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6595800	0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6595806	1.00[CEU][hapmap];0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6595807	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6862701	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6873339	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6875982	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6879970	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6887674	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6887847	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72794392	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72794396	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72794400	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72794401	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs736969	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7703634	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7713860	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7718286	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7732599	0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs790156	0.87[YRI][hapmap]
rs806100	1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs883074	0.90[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[YRI][hapmap]
rs891886	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9968597	0.95[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	esv3422179	chr5:127450653-127456051	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127421600-127466800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr5:127423600-127494000	Weak transcription	K562	blood
3	chr5:127432400-127454600	Weak transcription	Fetal Kidney	kidney
4	chr5:127441200-127536800	Weak transcription	Colonic Mucosa	Colon
5	chr5:127441400-127457400	Weak transcription	Stomach Mucosa	stomach
6	chr5:127442400-127525000	Weak transcription	Right Ventricle	heart
7	chr5:127443000-127457200	Weak transcription	Pancreas	Pancrea
8	chr5:127443000-127467000	Weak transcription	Esophagus	oesophagus
9	chr5:127443800-127459800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr5:127444400-127457600	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr5:127445200-127456600	Weak transcription	Spleen	Spleen
12	chr5:127445200-127466800	Weak transcription	Gastric	stomach
13	chr5:127445200-127480200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr5:127445400-127491800	Weak transcription	Psoas Muscle	Psoas
15	chr5:127447000-127525000	Weak transcription	Fetal Brain Male	brain
16	chr5:127447600-127454800	Strong transcription	Rectal Mucosa Donor 31	rectum
17	chr5:127447600-127455000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr5:127447600-127455000	Strong transcription	Fetal Intestine Large	intestine
19	chr5:127447800-127455000	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr5:127447800-127466600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr5:127448400-127454000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr5:127448400-127458600	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr5:127448600-127453000	Strong transcription	HUVEC	blood vessel
24	chr5:127448600-127453400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr5:127448600-127453600	Strong transcription	Primary hematopoietic stem cells	blood
26	chr5:127448600-127454600	Strong transcription	A549	lung
27	chr5:127448800-127453600	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr5:127448800-127454000	Strong transcription	Primary B cells from cord blood	blood
29	chr5:127448800-127455000	Strong transcription	Duodenum Smooth Muscle	Duodenum
30	chr5:127449000-127453400	Strong transcription	Dnd41	blood
31	chr5:127449000-127455000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr5:127449000-127455000	Strong transcription	Duodenum Mucosa	Duodenum
33	chr5:127449000-127457400	Weak transcription	Placenta	Placenta
34	chr5:127449200-127454000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr5:127449200-127454000	Weak transcription	Brain Germinal Matrix	brain
36	chr5:127449200-127454800	Strong transcription	Primary B cells from peripheral blood	blood
37	chr5:127449400-127453000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr5:127449400-127454800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr5:127449600-127453800	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr5:127449600-127454000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr5:127449800-127453200	Strong transcription	Primary T helper cells PMA-I stimulated	--
42	chr5:127449800-127454000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr5:127450000-127453200	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr5:127450000-127453600	Strong transcription	Liver	Liver
45	chr5:127450000-127454600	Strong transcription	Brain Inferior Temporal Lobe	brain
46	chr5:127450200-127453000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr5:127450200-127454200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr5:127450600-127453000	Strong transcription	HSMMtube	muscle
49	chr5:127450600-127453600	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr5:127450600-127455000	Strong transcription	Sigmoid Colon	Sigmoid Colon

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