Variant report

Variant	rs2591062
Chromosome Location	chr15:57513003-57513004
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:57511815..57513845-chr15:57528916..57531041,2	K562	blood:
2	chr15:57506333..57510182-chr15:57512015..57516171,5	K562	blood:

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

rSNPs within LD-proxies of this variant (count:94)

rs_ID	r²[population]
rs11071307	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs11071310	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11636655	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs12324235	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12593843	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes]
rs12595074	0.93[JPT][hapmap]
rs1346880	0.95[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap]
rs1545728	0.90[YRI][hapmap]
rs16977374	1.00[YRI][hapmap]
rs17239222	1.00[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.83[EUR][1000 genomes]
rs17239459	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17819940	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs17820018	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17820095	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1820996	0.95[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap]
rs1867638	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1870870	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2126402	1.00[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.83[EUR][1000 genomes]
rs2169468	1.00[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.83[EUR][1000 genomes]
rs2248620	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2252289	0.94[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs2290939	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2431032	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2440972	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2440974	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2441924	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2464427	0.94[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap]
rs2464428	0.94[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap]
rs2470080	0.95[CEU][hapmap];0.91[CHB][hapmap];0.93[JPT][hapmap]
rs2470081	0.94[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap]
rs2470083	0.95[CEU][hapmap];0.91[CHB][hapmap];0.93[JPT][hapmap]
rs2470084	0.95[CEU][hapmap];0.91[CHB][hapmap];0.93[JPT][hapmap]
rs2566856	0.94[CEU][hapmap]
rs2591066	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]
rs2593216	0.80[YRI][hapmap]
rs2593217	1.00[CEU][hapmap];0.87[JPT][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2593221	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2593223	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2593228	0.90[YRI][hapmap]
rs2593233	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2593234	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2593236	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2615220	0.90[YRI][hapmap]
rs2615228	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2703588	0.95[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs2703599	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2703600	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2703619	0.80[YRI][hapmap]
rs2733187	0.94[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs2733304	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2733309	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2733318	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2733320	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2733329	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2733330	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2920270	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs2920272	0.95[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap]
rs2921430	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2951900	0.95[CEU][hapmap];0.91[CHB][hapmap];0.93[JPT][hapmap]
rs2951902	0.95[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs2957576	0.94[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap]
rs2957578	0.94[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs2957592	1.00[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.82[EUR][1000 genomes]
rs2962988	0.93[JPT][hapmap]
rs2962994	0.95[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap]
rs2962995	1.00[CEU][hapmap];0.90[CHB][hapmap];0.83[EUR][1000 genomes]
rs3095821	0.90[YRI][hapmap]
rs3794617	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4378569	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4774920	0.87[EUR][1000 genomes]
rs56151428	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6493909	0.94[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7165729	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7167268	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7180513	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7182038	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7182188	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72731924	0.86[EUR][1000 genomes]
rs72731934	0.84[EUR][1000 genomes]
rs72731958	0.89[EUR][1000 genomes]
rs72731964	0.87[EUR][1000 genomes]
rs72731970	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72731974	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72731986	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs734033	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8024830	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8024901	1.00[YRI][hapmap]
rs8027348	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8035097	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs8037987	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8042190	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs8042322	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8043103	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs935328	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv904251	chr15:57241970-57575916	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1045611	chr15:57350965-58070807	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv457164	chr15:57495060-57559387	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv569578	chr15:57495060-57559387	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv833021	chr15:57495413-57751366	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57453800-57524600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr15:57478800-57526200	Weak transcription	Hela-S3	cervix
3	chr15:57479400-57524800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr15:57481800-57524600	Weak transcription	Right Ventricle	heart
5	chr15:57487000-57524400	Weak transcription	Placenta	Placenta
6	chr15:57491600-57515200	Weak transcription	GM12878-XiMat	blood
7	chr15:57501200-57524400	Weak transcription	Thymus	Thymus
8	chr15:57507000-57519800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr15:57508200-57522800	Weak transcription	Fetal Thymus	thymus
10	chr15:57508600-57524400	Weak transcription	HepG2	liver
11	chr15:57508800-57515200	Weak transcription	K562	blood
12	chr15:57509200-57526200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr15:57509600-57514200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr15:57510000-57514200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
15	chr15:57510400-57514200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr15:57510600-57514600	Active TSS	Fetal Muscle Leg	muscle
17	chr15:57510600-57516400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr15:57510600-57517200	Active TSS	NHLF	lung
19	chr15:57510600-57518800	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr15:57510600-57519400	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr15:57510600-57519800	Weak transcription	Dnd41	blood
22	chr15:57510600-57524400	Weak transcription	Liver	Liver
23	chr15:57510600-57524600	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr15:57510800-57514000	Enhancers	Osteobl	bone
25	chr15:57511200-57513800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr15:57511200-57513800	Active TSS	Fetal Muscle Trunk	muscle
27	chr15:57511200-57514000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr15:57511200-57514800	Active TSS	Fetal Kidney	kidney
29	chr15:57511200-57525400	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr15:57511400-57514000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr15:57511400-57514600	Active TSS	HSMMtube	muscle
32	chr15:57511400-57514800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr15:57511400-57515000	Active TSS	Cortex derived primary cultured neurospheres	brain
34	chr15:57511400-57515200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr15:57511400-57515200	Weak transcription	Primary T cells from cord blood	blood
36	chr15:57511600-57513600	Active TSS	Stomach Smooth Muscle	stomach
37	chr15:57511600-57513800	Active TSS	H1 Cell Line	embryonic stem cell
38	chr15:57511600-57513800	Active TSS	H9 Cell Line	embryonic stem cell
39	chr15:57511600-57513800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr15:57511600-57525600	Weak transcription	A549	lung
41	chr15:57511600-57528000	Weak transcription	Fetal Heart	heart
42	chr15:57511800-57513200	Active TSS	iPS-20b Cell Line	embryonic stem cell
43	chr15:57511800-57513200	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr15:57511800-57513200	Weak transcription	Stomach Mucosa	stomach
45	chr15:57511800-57513200	Active TSS	HSMM	muscle
46	chr15:57511800-57513400	Active TSS	ES-I3 Cell Line	embryonic stem cell
47	chr15:57511800-57513400	Active TSS	HUES6 Cell Line	embryonic stem cell
48	chr15:57511800-57513800	Active TSS	HUES48 Cell Line	embryonic stem cell
49	chr15:57511800-57513800	Active TSS	HUES64 Cell Line	embryonic stem cell
50	chr15:57511800-57514000	Active TSS	Fetal Brain Female	brain

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