Variant report

Variant	rs2011551
Chromosome Location	chr15:57442262-57442263
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1020888	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1430821	1.00[JPT][hapmap];0.80[YRI][hapmap]
rs1542508	1.00[JPT][hapmap];0.89[YRI][hapmap];0.82[AFR][1000 genomes]
rs1652736	1.00[JPT][hapmap]
rs16977246	1.00[JPT][hapmap];0.94[YRI][hapmap];0.87[AFR][1000 genomes]
rs16977269	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1841692	1.00[JPT][hapmap];0.94[YRI][hapmap];0.90[AFR][1000 genomes]
rs2116064	1.00[JPT][hapmap];0.89[YRI][hapmap]
rs213146	1.00[JPT][hapmap];0.87[YRI][hapmap]
rs2566843	1.00[JPT][hapmap]
rs2585084	1.00[JPT][hapmap];0.87[YRI][hapmap]
rs2585110	0.88[YRI][hapmap]
rs2585118	1.00[JPT][hapmap];0.84[YRI][hapmap]
rs2593230	1.00[JPT][hapmap]
rs2593246	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2615233	1.00[JPT][hapmap]
rs2615243	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2703587	1.00[JPT][hapmap]
rs2703589	1.00[JPT][hapmap];0.84[YRI][hapmap]
rs2703620	1.00[JPT][hapmap]
rs2733194	1.00[JPT][hapmap]
rs2733195	1.00[JPT][hapmap]
rs2733339	1.00[JPT][hapmap]
rs4494480	0.94[YRI][hapmap]
rs4774911	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4774912	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55702628	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56032316	0.82[AFR][1000 genomes]
rs56683633	0.84[AFR][1000 genomes]
rs56821483	0.87[AFR][1000 genomes]
rs56901700	0.84[AFR][1000 genomes]
rs58050095	0.81[AFR][1000 genomes]
rs58388376	0.90[AFR][1000 genomes]
rs59239112	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59799036	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs604191	1.00[JPT][hapmap]
rs6493902	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6493904	1.00[CEU][hapmap];0.94[YRI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7161894	1.00[JPT][hapmap];0.89[YRI][hapmap]
rs7164557	0.94[YRI][hapmap]
rs7175983	0.89[YRI][hapmap]
rs7180911	1.00[JPT][hapmap];0.94[YRI][hapmap];0.90[AFR][1000 genomes]
rs73415456	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74018496	0.81[AFR][1000 genomes]
rs8025829	1.00[JPT][hapmap];0.89[YRI][hapmap]
rs8037469	1.00[JPT][hapmap];0.82[YRI][hapmap]
rs8040557	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042486	chr15:57094598-57505992	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	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
3	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

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57387600-57442400	Weak transcription	Fetal Intestine Large	intestine
2	chr15:57427400-57442600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr15:57428600-57444000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr15:57433000-57444000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr15:57437200-57442600	Weak transcription	K562	blood
6	chr15:57438400-57442800	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr15:57438600-57444000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr15:57439000-57442800	Enhancers	Brain Substantia Nigra	brain
9	chr15:57439000-57463400	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr15:57439200-57442400	Enhancers	Brain Cingulate Gyrus	brain
11	chr15:57439200-57442400	Enhancers	Colon Smooth Muscle	Colon
12	chr15:57439200-57442600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr15:57439200-57442800	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr15:57439200-57442800	Enhancers	Brain Angular Gyrus	brain
15	chr15:57439200-57443400	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr15:57439200-57443600	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr15:57439200-57443600	Weak transcription	A549	lung
18	chr15:57439200-57443800	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr15:57439400-57442400	Enhancers	Rectal Smooth Muscle	rectum
20	chr15:57439400-57442600	Enhancers	Brain Anterior Caudate	brain
21	chr15:57439400-57442600	Enhancers	Brain Hippocampus Middle	brain
22	chr15:57439400-57443000	Enhancers	Adipose Nuclei	Adipose
23	chr15:57439400-57443200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr15:57439400-57443200	Weak transcription	Fetal Intestine Small	intestine
25	chr15:57439400-57443600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr15:57439400-57444000	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr15:57439400-57444000	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr15:57439400-57456000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr15:57439400-57491600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr15:57439600-57444000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr15:57440000-57442600	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr15:57440400-57442400	Weak transcription	Primary B cells from cord blood	blood
33	chr15:57440400-57442800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr15:57440400-57443200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr15:57440400-57443200	Strong transcription	Fetal Thymus	thymus
36	chr15:57440400-57444000	Weak transcription	Duodenum Mucosa	Duodenum
37	chr15:57440600-57442800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr15:57440600-57442800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr15:57440600-57442800	Enhancers	HSMMtube	muscle
40	chr15:57440600-57442800	Enhancers	Osteobl	bone
41	chr15:57440600-57443400	Weak transcription	Primary B cells from peripheral blood	blood
42	chr15:57440600-57443400	Enhancers	NHLF	lung
43	chr15:57440800-57442600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr15:57440800-57450400	Weak transcription	Aorta	Aorta
45	chr15:57441000-57442400	Enhancers	Fetal Heart	heart
46	chr15:57441000-57442800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr15:57441000-57442800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr15:57441000-57442800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr15:57441000-57443000	Enhancers	HUVEC	blood vessel
50	chr15:57441000-57443000	Enhancers	NHDF-Ad	bronchial

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