Variant report

Variant	rs9526520
Chromosome Location	chr13:49605612-49605613
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:49595139..49597075-chr13:49604093..49605906,2	MCF-7	breast:
2	chr13:49604135..49605802-chr13:49605947..49607714,2	K562	blood:

Extended variants
information (count: 107 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:101)

rs_ID	r²[population]
rs12872974	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1359066	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1407827	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1407829	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1928109	0.86[CHB][hapmap];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1928110	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1937180	1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1937181	0.86[CHB][hapmap]
rs1983805	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.82[AFR][1000 genomes]
rs2021622	0.86[EUR][1000 genomes]
rs2026029	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2146748	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs2149498	1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2181537	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2181538	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2181539	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs2183095	0.90[CHB][hapmap];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2407265	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2407266	0.90[CHB][hapmap];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2897633	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2897689	0.84[YRI][hapmap]
rs2987528	0.90[CHB][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2987532	0.90[CHB][hapmap];0.84[EUR][1000 genomes]
rs2987535	0.95[EUR][1000 genomes]
rs2994377	0.90[CHB][hapmap];0.84[EUR][1000 genomes]
rs2994378	0.90[CHB][hapmap];0.84[EUR][1000 genomes]
rs2994379	0.90[CHB][hapmap];0.91[EUR][1000 genomes]
rs2994380	0.90[CHB][hapmap];0.91[EUR][1000 genomes]
rs2994381	0.91[EUR][1000 genomes]
rs3012116	0.90[CHB][hapmap];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3012117	0.90[CHB][hapmap];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3012118	0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3012121	0.90[CHB][hapmap];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3012127	0.86[CHB][hapmap];0.91[EUR][1000 genomes]
rs3012133	0.90[CHB][hapmap];0.94[EUR][1000 genomes]
rs3012135	0.95[EUR][1000 genomes]
rs3012136	0.90[CHB][hapmap];0.95[EUR][1000 genomes]
rs4142065	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs4258502	0.85[CHB][hapmap];0.90[JPT][hapmap];0.83[YRI][hapmap];0.82[ASN][1000 genomes]
rs4530025	0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs4942795	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4942796	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4942798	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4942799	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4942800	0.95[CHB][hapmap];0.95[JPT][hapmap];0.94[YRI][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6561491	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6561493	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6561496	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs6561497	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6561504	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap]
rs7139854	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs720627	0.90[CHB][hapmap];0.84[EUR][1000 genomes]
rs728075	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7318871	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7325026	0.83[EUR][1000 genomes]
rs7328000	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7329291	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7331917	0.83[EUR][1000 genomes]
rs7333097	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap]
rs7333285	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap]
rs7338529	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs7983885	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7986624	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7987258	0.85[CHB][hapmap];0.90[JPT][hapmap];0.89[YRI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7988168	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7989175	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap]
rs7994368	0.85[CHB][hapmap];0.90[JPT][hapmap];0.83[YRI][hapmap]
rs7994910	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7995616	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7997118	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7998359	0.85[CHB][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7999513	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8248	0.86[CHB][hapmap];0.85[JPT][hapmap]
rs9316426	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9316427	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9316428	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9316429	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.90[ASN][1000 genomes]
rs9526517	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9526518	0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9526521	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9535126	0.86[CHB][hapmap];0.95[EUR][1000 genomes]
rs9535133	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9535136	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9535140	0.87[EUR][1000 genomes]
rs9535141	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9535145	0.90[CHB][hapmap];0.83[EUR][1000 genomes]
rs9535146	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs9535147	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9535149	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs9535154	0.90[CHB][hapmap]
rs9535155	0.90[CHB][hapmap]
rs9535156	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9535166	0.90[CHB][hapmap]
rs9535167	0.90[CHB][hapmap]
rs9562866	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9562870	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap]
rs9568143	0.85[CHB][hapmap];0.90[JPT][hapmap];0.80[ASN][1000 genomes]
rs9568150	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs9568151	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs9568154	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9591235	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049117	chr13:49089476-49928945	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv455882	chr13:49531551-49679157	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv561593	chr13:49531551-49679157	Genic enhancers Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	esv1793883	chr13:49543723-49789164	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv900068	chr13:49559790-49605774	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	esv1803100	chr13:49576474-49655941	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49551400-49638800	Weak transcription	Pancreas	Pancrea
2	chr13:49557000-49626800	Weak transcription	Right Ventricle	heart
3	chr13:49568800-49626800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr13:49568800-49627000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr13:49573400-49634800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr13:49581800-49606000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr13:49582200-49659000	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr13:49582800-49617600	Weak transcription	Liver	Liver
9	chr13:49584000-49616600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr13:49584200-49649200	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr13:49584600-49613800	Weak transcription	Left Ventricle	heart
12	chr13:49584800-49612400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr13:49587800-49611400	Weak transcription	Fetal Kidney	kidney
14	chr13:49587800-49626600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr13:49592800-49649600	Weak transcription	Fetal Intestine Large	intestine
16	chr13:49593400-49611800	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr13:49594800-49636000	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr13:49596400-49611600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr13:49596400-49626800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr13:49596800-49606600	Weak transcription	HepG2	liver
21	chr13:49596800-49609200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr13:49597000-49606000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr13:49597200-49619600	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr13:49597200-49626600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr13:49598000-49606800	Weak transcription	NH-A	brain
26	chr13:49598000-49650200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr13:49598600-49626800	Weak transcription	Osteobl	bone
28	chr13:49598800-49617600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr13:49599000-49614200	Weak transcription	Hela-S3	cervix
30	chr13:49599000-49649200	Weak transcription	Primary B cells from peripheral blood	blood
31	chr13:49601000-49616200	Weak transcription	Fetal Lung	lung
32	chr13:49601400-49620400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr13:49601600-49620000	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr13:49601600-49623800	Weak transcription	Fetal Stomach	stomach
35	chr13:49601800-49660600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr13:49603200-49649200	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr13:49603200-49652200	Weak transcription	Dnd41	blood
38	chr13:49603400-49613400	Weak transcription	Placenta	Placenta
39	chr13:49603400-49623800	Weak transcription	Fetal Intestine Small	intestine
40	chr13:49604200-49611600	Weak transcription	Primary T cells from cord blood	blood
41	chr13:49604600-49610400	Weak transcription	Primary hematopoietic stem cells	blood
42	chr13:49604600-49625200	Weak transcription	Primary B cells from cord blood	blood
43	chr13:49604600-49626800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr13:49604800-49611600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr13:49604800-49618800	Weak transcription	GM12878-XiMat	blood
46	chr13:49604800-49636400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr13:49605200-49643400	Weak transcription	HSMM	muscle
48	chr13:49605600-49613800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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