Variant report

Variant	rs2590388
Chromosome Location	chr10:49597004-49597005
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	chr10:49596329..49598626-chr10:49641274..49643307,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10735224	0.94[AFR][1000 genomes]
rs10735225	0.94[AFR][1000 genomes]
rs10776599	0.94[AFR][1000 genomes]
rs10776605	1.00[CEU][hapmap]
rs10857567	1.00[CEU][hapmap]
rs10857569	1.00[CEU][hapmap]
rs10857570	1.00[CEU][hapmap]
rs11101265	1.00[CEU][hapmap]
rs11101337	1.00[CEU][hapmap]
rs11816450	1.00[CEU][hapmap]
rs12249536	1.00[CEU][hapmap]
rs12252237	1.00[CEU][hapmap]
rs1429801	1.00[CEU][hapmap]
rs1429802	1.00[CEU][hapmap]
rs1550774	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1623017	1.00[CEU][hapmap]
rs17011328	1.00[CEU][hapmap]
rs1814473	1.00[CEU][hapmap]
rs1867575	1.00[CEU][hapmap]
rs1881739	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1919705	1.00[CEU][hapmap];0.93[YRI][hapmap];0.95[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1978998	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs2590379	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs2590380	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs2590387	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs2590390	0.93[YRI][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs2698760	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs2698765	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs2698769	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs3730154	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs3867450	1.00[CEU][hapmap]
rs4012795	1.00[CEU][hapmap]
rs4012801	1.00[CEU][hapmap]
rs4141840	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs4281444	0.83[AFR][1000 genomes]
rs58181014	0.83[AFR][1000 genomes]
rs7085678	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7098618	1.00[CEU][hapmap]
rs73293198	0.87[AFR][1000 genomes]
rs7894863	0.94[AFR][1000 genomes]
rs7915014	1.00[CEU][hapmap]

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	nsv895371	chr10:49492075-50232180	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv895372	chr10:49576878-49933488	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1039508	chr10:49595718-49654403	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49587600-49599600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr10:49590200-49598400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr10:49590200-49598800	Weak transcription	A549	lung
4	chr10:49590200-49599600	Weak transcription	Pancreas	Pancrea
5	chr10:49590400-49598600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr10:49590400-49599000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr10:49591400-49599600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr10:49591800-49597200	Weak transcription	NHDF-Ad	bronchial
9	chr10:49591800-49599000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr10:49592000-49597600	Weak transcription	HUVEC	blood vessel
11	chr10:49592200-49597400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr10:49592400-49597600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr10:49592600-49597400	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr10:49592600-49597600	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr10:49592800-49597400	Weak transcription	HMEC	breast
16	chr10:49593000-49597400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr10:49593000-49598000	Weak transcription	Right Atrium	heart
18	chr10:49593000-49599000	Weak transcription	Primary hematopoietic stem cells	blood
19	chr10:49593200-49597200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr10:49593200-49597200	Weak transcription	Fetal Heart	heart
21	chr10:49593200-49597600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr10:49593200-49599000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr10:49593200-49607600	Weak transcription	Fetal Lung	lung
24	chr10:49593400-49597400	Weak transcription	Colon Smooth Muscle	Colon
25	chr10:49593400-49597400	Weak transcription	HSMMtube	muscle
26	chr10:49593400-49599000	Weak transcription	HSMM	muscle
27	chr10:49593600-49597200	Weak transcription	GM12878-XiMat	blood
28	chr10:49593600-49597400	Weak transcription	Fetal Kidney	kidney
29	chr10:49593600-49598800	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr10:49595000-49599400	Weak transcription	Brain Cingulate Gyrus	brain
31	chr10:49595000-49616000	Weak transcription	Primary B cells from cord blood	blood
32	chr10:49595600-49597200	Enhancers	K562	blood
33	chr10:49595800-49597200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr10:49596000-49597200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr10:49596200-49597600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr10:49596400-49599600	Enhancers	Fetal Intestine Large	intestine
37	chr10:49596400-49599800	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr10:49596400-49600000	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr10:49596600-49601200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
40	chr10:49596800-49597600	Enhancers	Right Ventricle	heart
41	chr10:49596800-49598200	Enhancers	Ovary	ovary
42	chr10:49596800-49598800	Enhancers	Left Ventricle	heart
43	chr10:49596800-49598800	Enhancers	Psoas Muscle	Psoas
44	chr10:49596800-49600000	Enhancers	Primary T helper cells fromperipheralblood	blood
45	chr10:49596800-49600000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr10:49596800-49600200	Enhancers	Sigmoid Colon	Sigmoid Colon
47	chr10:49596800-49600400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr10:49596800-49600400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr10:49597000-49597600	Weak transcription	Fetal Intestine Small	intestine
50	chr10:49597000-49597800	Enhancers	Primary T killer memory cells from peripheral blood	blood

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