Variant report

Variant	rs2585084
Chromosome Location	chr15:57310645-57310646
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:57209175..57210784-chr15:57308733..57311658,2	K562	blood:

Variant related genes	Relation type
ENSG00000137871	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs1020888	1.00[JPT][hapmap];0.88[YRI][hapmap]
rs13329610	1.00[JPT][hapmap]
rs1430821	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs1542508	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];1.00[AMR][1000 genomes]
rs1628067	0.89[YRI][hapmap]
rs1642932	1.00[CEU][hapmap];0.82[MKK][hapmap];0.89[YRI][hapmap];1.00[AMR][1000 genomes]
rs1642938	1.00[AMR][1000 genomes]
rs1652735	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs1652736	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs1657925	1.00[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs16977246	1.00[JPT][hapmap];0.94[YRI][hapmap]
rs16977269	1.00[JPT][hapmap];0.94[YRI][hapmap]
rs1841692	1.00[JPT][hapmap];0.94[YRI][hapmap]
rs2011551	1.00[JPT][hapmap];0.87[YRI][hapmap]
rs2116064	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs213145	1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs213146	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];1.00[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs213149	0.89[YRI][hapmap]
rs213155	0.80[YRI][hapmap]
rs213157	1.00[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs213158	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs213159	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];1.00[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs213161	1.00[CEU][hapmap];0.89[YRI][hapmap];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs213169	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.80[ASN][1000 genomes]
rs2566843	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2576928	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2585087	0.89[YRI][hapmap]
rs2585110	0.87[MKK][hapmap];0.88[YRI][hapmap];0.80[ASN][1000 genomes]
rs2585117	1.00[AMR][1000 genomes]
rs2585118	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.80[ASN][1000 genomes]
rs2593230	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2593246	1.00[JPT][hapmap]
rs2615233	1.00[JPT][hapmap]
rs2703587	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs2703589	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs2703620	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2733171	0.89[YRI][hapmap]
rs2733194	1.00[JPT][hapmap]
rs2733195	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs2733339	1.00[JPT][hapmap];0.90[MKK][hapmap]
rs4494480	1.00[CEU][hapmap];0.94[YRI][hapmap];1.00[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs4774911	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap]
rs4774912	1.00[JPT][hapmap]
rs56235870	1.00[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs56683633	1.00[AMR][1000 genomes]
rs56804967	1.00[AMR][1000 genomes]
rs57344548	1.00[AMR][1000 genomes]
rs57452003	0.80[ASN][1000 genomes]
rs57849686	1.00[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs57968080	1.00[AMR][1000 genomes]
rs58388376	1.00[AMR][1000 genomes]
rs59313491	1.00[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs60268394	0.80[ASN][1000 genomes]
rs604191	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[MKK][hapmap];0.89[YRI][hapmap];1.00[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs6493902	1.00[JPT][hapmap]
rs6493904	1.00[JPT][hapmap];0.94[YRI][hapmap]
rs7161894	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];1.00[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs7162421	1.00[AMR][1000 genomes]
rs7170742	1.00[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs7175983	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7180911	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];1.00[AMR][1000 genomes]
rs73411246	1.00[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs73413325	1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs73413333	1.00[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs73413352	1.00[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs73413365	1.00[AMR][1000 genomes]
rs74018446	1.00[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs74018485	1.00[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs8025829	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs8037469	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs8040423	0.80[ASN][1000 genomes]
rs8040557	1.00[JPT][hapmap];0.94[YRI][hapmap]
rs8043301	1.00[AMR][1000 genomes];0.80[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	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	nsv542393	chr15:57115116-57341363	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv1052052	chr15:57232111-57344561	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv542394	chr15:57232111-57344561	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	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

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57276200-57313400	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr15:57277000-57313400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr15:57282000-57315000	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr15:57282200-57311000	Weak transcription	K562	blood
5	chr15:57282200-57315200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr15:57284200-57310800	Weak transcription	Fetal Muscle Trunk	muscle
7	chr15:57286200-57312000	Weak transcription	HSMM	muscle
8	chr15:57286200-57314800	Weak transcription	Dnd41	blood
9	chr15:57289600-57315200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr15:57289600-57315600	Weak transcription	Fetal Muscle Leg	muscle
11	chr15:57289800-57315600	Weak transcription	Primary B cells from cord blood	blood
12	chr15:57294400-57311600	Weak transcription	GM12878-XiMat	blood
13	chr15:57295200-57313600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr15:57296600-57313200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr15:57297200-57316800	Weak transcription	Fetal Stomach	stomach
16	chr15:57299200-57316000	Weak transcription	Right Ventricle	heart
17	chr15:57299200-57317200	Weak transcription	Esophagus	oesophagus
18	chr15:57300200-57313800	Strong transcription	Fetal Thymus	thymus
19	chr15:57303600-57317600	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr15:57305000-57310800	Weak transcription	Spleen	Spleen
21	chr15:57305000-57311200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr15:57305000-57311800	Weak transcription	Aorta	Aorta
23	chr15:57305000-57312000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr15:57305000-57313400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr15:57305000-57313400	Weak transcription	Right Atrium	heart
26	chr15:57306400-57312400	Enhancers	Placenta	Placenta
27	chr15:57307000-57311600	Weak transcription	NHLF	lung
28	chr15:57307400-57311000	Enhancers	Fetal Intestine Large	intestine
29	chr15:57307600-57312200	Enhancers	Brain Anterior Caudate	brain
30	chr15:57307600-57312400	Enhancers	A549	lung
31	chr15:57307600-57312800	Enhancers	Brain Substantia Nigra	brain
32	chr15:57307800-57312600	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr15:57307800-57313400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr15:57307800-57323400	Weak transcription	Pancreas	Pancrea
35	chr15:57308000-57310800	Weak transcription	Ovary	ovary
36	chr15:57308000-57317400	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr15:57308000-57328000	Weak transcription	Gastric	stomach
38	chr15:57308200-57311800	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr15:57308400-57311800	Weak transcription	HUVEC	blood vessel
40	chr15:57308600-57311600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr15:57308600-57311600	Weak transcription	NH-A	brain
42	chr15:57308800-57311800	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr15:57308800-57323400	Weak transcription	Small Intestine	intestine
44	chr15:57309200-57310800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr15:57309200-57310800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr15:57309200-57323400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr15:57309400-57310800	Weak transcription	NHEK	skin
48	chr15:57309400-57311000	Weak transcription	Fetal Heart	heart
49	chr15:57309400-57311200	Weak transcription	Colon Smooth Muscle	Colon
50	chr15:57309400-57311200	Enhancers	NHDF-Ad	bronchial

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