Variant report

Variant	rs198576
Chromosome Location	chr13:49029789-49029790
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:49021166..49023962-chr13:49028284..49030489,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs1547660	0.88[ASN][1000 genomes]
rs171988	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs171990	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs174857	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1926595	0.88[ASN][1000 genomes]
rs1926597	0.88[ASN][1000 genomes]
rs198564	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs198568	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs198571	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs198574	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs198575	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs198577	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs198606	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs198608	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs198609	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.94[YRI][hapmap];0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs198610	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs198614	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs198622	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs198623	0.91[AFR][1000 genomes]
rs198624	0.93[AFR][1000 genomes]
rs198627	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs198629	0.81[AFR][1000 genomes]
rs198630	0.85[AFR][1000 genomes]
rs198631	0.85[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs2070752	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2274400	0.88[CHB][hapmap];0.90[JPT][hapmap]
rs2804094	1.00[CEU][hapmap];0.91[JPT][hapmap];0.84[YRI][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2804095	1.00[CHB][hapmap];0.91[JPT][hapmap];0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2854342	1.00[CEU][hapmap];0.90[JPT][hapmap];0.95[YRI][hapmap];0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2854348	0.91[JPT][hapmap];0.96[YRI][hapmap];0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2854353	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2854357	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2854362	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3092888	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3092898	1.00[ASN][1000 genomes]
rs3092899	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap]
rs3751380	0.89[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs398158	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs403390	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs406098	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4151434	0.91[JPT][hapmap]
rs4151442	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs4151448	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs4151452	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs4151456	0.86[CHB][hapmap];0.80[JPT][hapmap]
rs4151474	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs4151525	0.88[CHB][hapmap];0.90[JPT][hapmap]
rs4151601	0.88[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs425834	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs427686	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs449268	0.80[YRI][hapmap];0.81[AFR][1000 genomes]
rs58854758	0.91[ASN][1000 genomes]
rs61074776	0.88[ASN][1000 genomes]
rs6561448	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs6561457	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6561461	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs6561465	1.00[CEU][hapmap]
rs7325962	0.89[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7329039	0.88[ASN][1000 genomes]
rs7329865	0.88[CHB][hapmap];0.90[JPT][hapmap]
rs73486867	0.88[ASN][1000 genomes]
rs73495016	0.93[ASN][1000 genomes]
rs7985825	0.88[ASN][1000 genomes]
rs7992129	0.88[ASN][1000 genomes]
rs7995216	0.89[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs7996186	0.88[CHB][hapmap];0.90[JPT][hapmap]
rs7996402	0.88[ASN][1000 genomes]
rs7998781	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs8001241	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs8002565	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs9316385	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9316401	0.88[ASN][1000 genomes]
rs9331965	0.88[CHB][hapmap];0.90[JPT][hapmap]
rs9331973	0.88[CHB][hapmap];0.90[JPT][hapmap]
rs9332054	0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs9591172	0.88[ASN][1000 genomes]
rs9591177	0.87[ASN][1000 genomes]
rs9591178	0.88[ASN][1000 genomes]
rs9595931	1.00[CEU][hapmap]

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:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48990800-49030800	Weak transcription	Ovary	ovary
2	chr13:48991400-49030600	Weak transcription	Spleen	Spleen
3	chr13:49006800-49030400	Weak transcription	Brain Cingulate Gyrus	brain
4	chr13:49008800-49030800	Weak transcription	Placenta	Placenta
5	chr13:49009000-49030600	Weak transcription	Gastric	stomach
6	chr13:49009000-49030600	Weak transcription	Lung	lung
7	chr13:49017400-49062200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr13:49018000-49062400	Weak transcription	Fetal Brain Male	brain
9	chr13:49019000-49030600	Weak transcription	Fetal Stomach	stomach
10	chr13:49020800-49062000	Weak transcription	Fetal Kidney	kidney
11	chr13:49021200-49058600	Weak transcription	Hela-S3	cervix
12	chr13:49021400-49030400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr13:49023600-49030400	Weak transcription	Brain Anterior Caudate	brain
14	chr13:49023600-49030400	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr13:49023800-49030400	Weak transcription	Brain Hippocampus Middle	brain
16	chr13:49023800-49030600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr13:49023800-49061000	Weak transcription	Small Intestine	intestine
18	chr13:49023800-49073800	Weak transcription	NH-A	brain
19	chr13:49024000-49030400	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr13:49024000-49030400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr13:49024000-49030400	Weak transcription	NHDF-Ad	bronchial
22	chr13:49024000-49059000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr13:49025400-49030400	Weak transcription	Liver	Liver
24	chr13:49025400-49034400	Weak transcription	Fetal Lung	lung
25	chr13:49025600-49030200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr13:49025600-49030400	Weak transcription	Fetal Brain Female	brain
27	chr13:49025600-49030600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr13:49025600-49030600	Weak transcription	Brain Germinal Matrix	brain
29	chr13:49025600-49030600	Weak transcription	Fetal Intestine Small	intestine
30	chr13:49025600-49030800	Weak transcription	Rectal Smooth Muscle	rectum
31	chr13:49025600-49041200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr13:49025600-49056800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr13:49025600-49066200	Weak transcription	Psoas Muscle	Psoas
34	chr13:49025800-49030400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr13:49025800-49030400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr13:49025800-49030600	Weak transcription	Right Ventricle	heart
37	chr13:49025800-49031000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr13:49026000-49030400	Weak transcription	Brain Angular Gyrus	brain
39	chr13:49026000-49030600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr13:49026000-49030600	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr13:49026000-49030800	Weak transcription	Brain Substantia Nigra	brain
42	chr13:49026200-49031600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr13:49026400-49033000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr13:49026600-49033000	Strong transcription	HSMM	muscle
45	chr13:49026600-49039400	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr13:49026800-49039400	Strong transcription	Dnd41	blood
47	chr13:49026800-49039600	Strong transcription	Primary B cells from peripheral blood	blood
48	chr13:49027000-49031400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr13:49027000-49039800	Strong transcription	Monocytes-CD14+_RO01746	blood
50	chr13:49027200-49039200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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