Variant report

Variant	rs4494480
Chromosome Location	chr15:57355360-57355361
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs1020888	1.00[ASW][hapmap];0.81[LWK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap]
rs1430821	1.00[CEU][hapmap];0.81[YRI][hapmap];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1542508	1.00[CEU][hapmap];0.94[YRI][hapmap];1.00[AMR][1000 genomes]
rs1628067	0.85[YRI][hapmap]
rs1642932	1.00[ASW][hapmap];1.00[CEU][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1642938	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1652735	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1652736	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[EUR][1000 genomes]
rs1657925	1.00[AMR][1000 genomes]
rs16977246	1.00[CHB][hapmap];1.00[YRI][hapmap];0.87[ASN][1000 genomes]
rs16977269	1.00[YRI][hapmap]
rs1841692	1.00[YRI][hapmap]
rs2011551	0.94[YRI][hapmap]
rs2116064	1.00[CEU][hapmap];0.95[YRI][hapmap];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs213145	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs213146	0.88[YRI][hapmap];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs213149	0.85[YRI][hapmap]
rs213155	0.82[MKK][hapmap]
rs213157	1.00[AMR][1000 genomes]
rs213158	1.00[CEU][hapmap];1.00[AMR][1000 genomes]
rs213159	1.00[CEU][hapmap];0.85[YRI][hapmap];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs213161	1.00[CEU][hapmap];0.85[YRI][hapmap];1.00[AMR][1000 genomes]
rs213169	1.00[CEU][hapmap];0.84[YRI][hapmap]
rs2566843	0.81[EUR][1000 genomes]
rs2576928	1.00[CEU][hapmap];0.87[CHD][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes]
rs2585084	1.00[CEU][hapmap];0.94[YRI][hapmap];1.00[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2585087	0.85[YRI][hapmap]
rs2585110	1.00[ASW][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.86[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs2585117	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2585118	1.00[CEU][hapmap];0.90[YRI][hapmap];0.81[EUR][1000 genomes]
rs2593230	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs2615233	1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[ASN][1000 genomes]
rs2703587	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs2703589	1.00[CEU][hapmap];1.00[CHB][hapmap];0.80[YRI][hapmap];0.81[ASN][1000 genomes]
rs2703620	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs2703624	0.87[ASN][1000 genomes]
rs2733171	0.85[YRI][hapmap]
rs2733194	0.91[ASW][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.80[ASN][1000 genomes]
rs2733195	1.00[CEU][hapmap];1.00[CHB][hapmap];0.80[ASN][1000 genomes]
rs2733328	0.87[ASN][1000 genomes]
rs2733337	0.87[ASN][1000 genomes]
rs2733339	0.91[ASW][hapmap];1.00[CHB][hapmap];0.82[MKK][hapmap];0.85[YRI][hapmap];0.87[ASN][1000 genomes]
rs4774911	0.94[YRI][hapmap]
rs56032316	0.87[ASN][1000 genomes]
rs56235870	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs56683633	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs56804967	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs56821483	0.87[ASN][1000 genomes]
rs56901700	0.87[ASN][1000 genomes]
rs57344548	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs57813422	0.81[EUR][1000 genomes]
rs57849686	1.00[AMR][1000 genomes]
rs57968080	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs58388376	1.00[AMR][1000 genomes]
rs59313491	1.00[AMR][1000 genomes]
rs604191	1.00[ASW][hapmap];1.00[CEU][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6493902	1.00[TSI][hapmap]
rs6493904	1.00[YRI][hapmap]
rs7161894	1.00[CEU][hapmap];0.94[YRI][hapmap];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7162421	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7164557	1.00[YRI][hapmap]
rs7170742	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7175983	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7178845	0.87[ASN][1000 genomes]
rs7180911	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs73411246	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73413325	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73413333	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73413352	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73413365	1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs74018446	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs74018485	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74018496	0.87[ASN][1000 genomes]
rs8025829	1.00[CEU][hapmap];0.95[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8037469	0.91[ASW][hapmap];1.00[CEU][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[ASN][1000 genomes]
rs8040557	1.00[YRI][hapmap]
rs8043301	1.00[AMR][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:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57324600-57355800	Weak transcription	Primary B cells from cord blood	blood
2	chr15:57324600-57398600	Weak transcription	Fetal Muscle Leg	muscle
3	chr15:57332000-57355800	Weak transcription	Primary B cells from peripheral blood	blood
4	chr15:57336600-57371800	Weak transcription	K562	blood
5	chr15:57339600-57355600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr15:57339800-57361600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr15:57340200-57372600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr15:57343800-57363400	Weak transcription	Aorta	Aorta
9	chr15:57344600-57363600	Weak transcription	Right Atrium	heart
10	chr15:57346000-57374400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr15:57347000-57373400	Weak transcription	Fetal Intestine Small	intestine
12	chr15:57347200-57356200	Weak transcription	Fetal Kidney	kidney
13	chr15:57347600-57373000	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr15:57347600-57373200	Weak transcription	Fetal Intestine Large	intestine
15	chr15:57348200-57361800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr15:57348600-57356800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr15:57349200-57355400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr15:57349200-57356600	Enhancers	Brain Substantia Nigra	brain
19	chr15:57349600-57359800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr15:57349800-57357800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr15:57349800-57363800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr15:57349800-57366600	Weak transcription	Psoas Muscle	Psoas
23	chr15:57350200-57360800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr15:57350200-57363800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr15:57350400-57356000	Enhancers	HUVEC	blood vessel
26	chr15:57350400-57362400	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr15:57350400-57372400	Weak transcription	Fetal Lung	lung
28	chr15:57350400-57373400	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr15:57350400-57374000	Weak transcription	Ovary	ovary
30	chr15:57350600-57355400	Enhancers	NHEK	skin
31	chr15:57350800-57356200	Weak transcription	Fetal Heart	heart
32	chr15:57351000-57356400	Enhancers	HMEC	breast
33	chr15:57351200-57356800	Enhancers	Brain Cingulate Gyrus	brain
34	chr15:57351400-57356400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr15:57351600-57361600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr15:57351800-57355600	Weak transcription	Thymus	Thymus
37	chr15:57351800-57355800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr15:57351800-57355800	Weak transcription	Liver	Liver
39	chr15:57351800-57359000	Weak transcription	GM12878-XiMat	blood
40	chr15:57351800-57360000	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr15:57351800-57361600	Weak transcription	Primary T cells from cord blood	blood
42	chr15:57351800-57371000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr15:57352600-57355400	Weak transcription	Brain Angular Gyrus	brain
44	chr15:57353000-57361600	Strong transcription	Fetal Thymus	thymus
45	chr15:57353200-57359800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr15:57353200-57362800	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr15:57353400-57356600	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr15:57353400-57357200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr15:57353400-57357600	Weak transcription	Hela-S3	cervix
50	chr15:57353400-57362600	Weak transcription	HUES48 Cell Line	embryonic stem cell

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