Variant report

Variant	rs428431
Chromosome Location	chr13:49006959-49006960
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs11840676	0.92[EUR][1000 genomes]
rs17071960	0.82[AMR][1000 genomes]
rs171989	1.00[EUR][1000 genomes]
rs171991	0.80[AFR][1000 genomes]
rs174854	0.82[AMR][1000 genomes]
rs174858	0.96[AFR][1000 genomes]
rs185587	0.92[EUR][1000 genomes]
rs198559	1.00[EUR][1000 genomes]
rs198560	0.98[AFR][1000 genomes]
rs198565	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs198566	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs198567	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs198572	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs198573	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs198580	1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs198583	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs198587	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs198589	1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs198600	1.00[EUR][1000 genomes]
rs198601	1.00[EUR][1000 genomes]
rs198613	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs198616	1.00[EUR][1000 genomes]
rs198617	1.00[EUR][1000 genomes]
rs198618	1.00[EUR][1000 genomes]
rs198626	0.84[EUR][1000 genomes]
rs198628	1.00[EUR][1000 genomes]
rs198632	1.00[EUR][1000 genomes]
rs198636	1.00[EUR][1000 genomes]
rs2245534	0.92[EUR][1000 genomes]
rs2265777	0.92[EUR][1000 genomes]
rs2406932	0.92[EUR][1000 genomes]
rs2515668	0.92[EUR][1000 genomes]
rs2804082	1.00[EUR][1000 genomes]
rs2804084	1.00[EUR][1000 genomes]
rs2804085	1.00[EUR][1000 genomes]
rs2804086	1.00[EUR][1000 genomes]
rs2804087	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2804088	0.82[YRI][hapmap];1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2804089	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2804091	0.92[EUR][1000 genomes]
rs2804092	0.92[EUR][1000 genomes]
rs2854352	0.92[EUR][1000 genomes]
rs2854356	0.92[EUR][1000 genomes]
rs2854363	1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2854364	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2854365	0.92[EUR][1000 genomes]
rs2984828	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3020646	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs411661	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs411862	1.00[EUR][1000 genomes]
rs4151590	0.92[EUR][1000 genomes]
rs416156	1.00[EUR][1000 genomes]
rs443211	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs449151	1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs4587857	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4625624	0.92[EUR][1000 genomes]
rs547747	1.00[EUR][1000 genomes]
rs61507973	0.92[EUR][1000 genomes]
rs7318012	0.92[EUR][1000 genomes]
rs7990103	1.00[EUR][1000 genomes]
rs8001351	0.92[EUR][1000 genomes]
rs9285166	0.92[EUR][1000 genomes]
rs9316371	0.92[EUR][1000 genomes]
rs9332053	0.82[EUR][1000 genomes]
rs9332066	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9332248	0.92[EUR][1000 genomes]
rs9332281	0.92[EUR][1000 genomes]
rs9562817	1.00[EUR][1000 genomes]
rs9591153	0.92[EUR][1000 genomes]
rs9591154	0.92[EUR][1000 genomes]
rs9591155	0.92[EUR][1000 genomes]
rs9591163	1.00[EUR][1000 genomes]
rs9595872	0.91[EUR][1000 genomes]
rs9595894	1.00[EUR][1000 genomes]
rs9595909	1.00[EUR][1000 genomes]
rs9595910	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832602	chr13:49003159-49167781	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48987600-49010400	Weak transcription	Psoas Muscle	Psoas
2	chr13:48990800-49011600	Weak transcription	Left Ventricle	heart
3	chr13:48990800-49030800	Weak transcription	Ovary	ovary
4	chr13:48991400-49010200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr13:48991400-49013200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr13:48991400-49018600	Weak transcription	Thymus	Thymus
7	chr13:48991400-49019200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr13:48991400-49030600	Weak transcription	Spleen	Spleen
9	chr13:48991600-49010800	Weak transcription	Fetal Stomach	stomach
10	chr13:48991800-49010000	Weak transcription	Primary B cells from peripheral blood	blood
11	chr13:48991800-49018800	Weak transcription	Fetal Thymus	thymus
12	chr13:48994800-49018000	Weak transcription	Primary B cells from cord blood	blood
13	chr13:48996600-49010400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr13:48997800-49011200	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr13:48999000-49024400	Weak transcription	Fetal Muscle Leg	muscle
16	chr13:49001200-49009600	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr13:49001200-49009800	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr13:49001400-49010600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr13:49001400-49022400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr13:49001400-49024600	Weak transcription	Fetal Intestine Small	intestine
21	chr13:49003000-49007000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
22	chr13:49003000-49012600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr13:49003600-49008800	Weak transcription	Lung	lung
24	chr13:49003600-49011600	Weak transcription	Pancreas	Pancrea
25	chr13:49003600-49023200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr13:49005000-49007000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr13:49005000-49007200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr13:49005200-49007000	Enhancers	Primary T cells from cord blood	blood
29	chr13:49005200-49007000	Enhancers	Osteobl	bone
30	chr13:49005400-49007000	Enhancers	Primary hematopoietic stem cells	blood
31	chr13:49005400-49007800	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr13:49005400-49007800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr13:49005600-49007000	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr13:49005600-49007200	Enhancers	Fetal Lung	lung
35	chr13:49006000-49007200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr13:49006000-49018000	Weak transcription	Dnd41	blood
37	chr13:49006200-49007000	Enhancers	Fetal Kidney	kidney
38	chr13:49006400-49008200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr13:49006400-49018800	Weak transcription	GM12878-XiMat	blood
40	chr13:49006600-49007000	Enhancers	HUVEC	blood vessel
41	chr13:49006600-49007800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr13:49006600-49010400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr13:49006600-49010800	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr13:49006600-49011400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr13:49006600-49011600	Weak transcription	Brain Anterior Caudate	brain
46	chr13:49006800-49007000	Enhancers	Adipose Nuclei	Adipose
47	chr13:49006800-49007200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr13:49006800-49007200	Enhancers	Muscle Satellite Cultured Cells	--
49	chr13:49006800-49008000	Enhancers	HepG2	liver
50	chr13:49006800-49008400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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