Variant report

Variant	rs9535149
Chromosome Location	chr13:49674247-49674248
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:49549122..49550926-chr13:49673383..49675612,2	K562	blood:
2	chr13:49549338..49550926-chr13:49673383..49675882,2	K562	blood:
3	chr13:49671638..49674479-chr13:49679407..49680982,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000102531	Chromatin interaction

Extended variants
information (count: 117 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:111)

rs_ID	r²[population]
rs12872974	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1359066	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1407827	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1407829	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1535922	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs1928109	0.90[CEU][hapmap];0.87[CHB][hapmap];0.82[EUR][1000 genomes]
rs1928110	0.85[EUR][1000 genomes]
rs1937180	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1937181	1.00[CEU][hapmap];0.87[CHB][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1983805	0.94[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2021622	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2026029	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs2146748	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2149498	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2181537	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2181538	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2181539	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2183095	0.90[CEU][hapmap];0.91[CHB][hapmap];0.82[EUR][1000 genomes]
rs2224742	0.88[ASN][1000 genomes]
rs2407265	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2407266	1.00[CEU][hapmap];0.91[CHB][hapmap];0.82[EUR][1000 genomes]
rs2897633	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2897689	0.83[CEU][hapmap]
rs2987528	1.00[CEU][hapmap];0.91[CHB][hapmap];0.82[EUR][1000 genomes]
rs2987532	0.95[CEU][hapmap];0.91[CHB][hapmap]
rs2987535	0.81[EUR][1000 genomes]
rs2994377	1.00[CEU][hapmap];0.91[CHB][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2994378	1.00[CEU][hapmap];0.91[CHB][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2994379	1.00[CEU][hapmap];0.91[CHB][hapmap];0.87[EUR][1000 genomes]
rs2994380	1.00[CEU][hapmap];0.91[CHB][hapmap];0.87[EUR][1000 genomes]
rs2994381	0.87[EUR][1000 genomes]
rs3012116	1.00[CEU][hapmap];0.91[CHB][hapmap];0.82[EUR][1000 genomes]
rs3012117	1.00[CEU][hapmap];0.91[CHB][hapmap];0.82[EUR][1000 genomes]
rs3012118	0.83[EUR][1000 genomes]
rs3012121	1.00[CEU][hapmap];0.91[CHB][hapmap];0.82[EUR][1000 genomes]
rs3012127	1.00[CEU][hapmap];0.87[CHB][hapmap];0.87[EUR][1000 genomes]
rs3012133	1.00[CEU][hapmap];0.91[CHB][hapmap]
rs3012135	0.81[EUR][1000 genomes]
rs3012136	1.00[CEU][hapmap];0.91[CHB][hapmap];0.81[EUR][1000 genomes]
rs34360275	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35018425	0.81[EUR][1000 genomes]
rs4142065	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4245350	0.81[EUR][1000 genomes]
rs4258502	0.83[CHB][hapmap];0.90[JPT][hapmap]
rs4530025	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4942795	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4942796	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs4942798	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4942799	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs4942800	0.95[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6561491	0.82[EUR][1000 genomes]
rs6561493	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6561496	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6561497	1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs6561504	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs7139819	0.84[EUR][1000 genomes]
rs7139854	0.85[EUR][1000 genomes]
rs716722	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs720627	0.95[CEU][hapmap];0.91[CHB][hapmap]
rs728075	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs7317908	0.81[EUR][1000 genomes]
rs7318871	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7328000	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7329291	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs7331917	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7333097	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs7333285	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[EUR][1000 genomes]
rs7338529	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7983885	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs7986624	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7987258	0.85[CEU][hapmap];0.83[CHB][hapmap];0.90[JPT][hapmap]
rs7988168	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7989175	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs7990573	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7994368	0.83[CHB][hapmap];0.90[JPT][hapmap]
rs7994845	0.82[EUR][1000 genomes]
rs7994910	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7995616	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7997118	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7998359	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7999513	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8248	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs9316426	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs9316428	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9316429	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs9526518	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9526520	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs9526521	0.96[YRI][hapmap];0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9526525	0.82[EUR][1000 genomes]
rs9535126	1.00[CEU][hapmap];0.87[CHB][hapmap];0.81[EUR][1000 genomes]
rs9535133	0.85[EUR][1000 genomes]
rs9535136	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9535140	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9535141	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9535145	1.00[CEU][hapmap];0.91[CHB][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9535146	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];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9535147	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9535154	1.00[CEU][hapmap];0.91[CHB][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9535155	1.00[CEU][hapmap];0.91[CHB][hapmap];0.82[EUR][1000 genomes]
rs9535156	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[EUR][1000 genomes]
rs9535166	1.00[CEU][hapmap];0.91[CHB][hapmap]
rs9535167	1.00[CEU][hapmap];0.91[CHB][hapmap]
rs9562866	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs9562870	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs9568143	0.83[CHB][hapmap];0.90[JPT][hapmap]
rs9568150	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9568151	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9568154	1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs9591235	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9596064	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs972297	1.00[CEU][hapmap]

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	nsv1035	chr13:49656225-49700371	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	esv1796840	chr13:49671215-49760666	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49639600-49687200	Weak transcription	Pancreas	Pancrea
2	chr13:49640600-49683800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr13:49649400-49684200	Weak transcription	Right Ventricle	heart
4	chr13:49651800-49684000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr13:49651800-49684000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr13:49655600-49684200	Weak transcription	Primary B cells from peripheral blood	blood
7	chr13:49657200-49692400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr13:49657400-49674800	Weak transcription	Fetal Intestine Large	intestine
9	chr13:49657400-49674800	Weak transcription	Placenta	Placenta
10	chr13:49657400-49684000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr13:49657800-49683800	Weak transcription	Primary B cells from cord blood	blood
12	chr13:49660000-49683600	Weak transcription	Primary T cells from cord blood	blood
13	chr13:49664000-49684000	Weak transcription	Primary hematopoietic stem cells	blood
14	chr13:49665200-49684000	Weak transcription	Fetal Stomach	stomach
15	chr13:49666200-49684200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr13:49666400-49682400	Weak transcription	Fetal Intestine Small	intestine
17	chr13:49671800-49683800	Weak transcription	Brain Anterior Caudate	brain
18	chr13:49671800-49684200	Weak transcription	Left Ventricle	heart
19	chr13:49672200-49684200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr13:49672400-49684200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr13:49672600-49682000	Weak transcription	Psoas Muscle	Psoas
22	chr13:49672600-49684000	Weak transcription	Ovary	ovary
23	chr13:49673000-49675800	Enhancers	Pancreatic Islets	Pancreatic Islet
24	chr13:49673200-49682400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr13:49673200-49683800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr13:49673200-49683800	Weak transcription	HepG2	liver
27	chr13:49673600-49675000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr13:49673600-49675000	Weak transcription	Stomach Mucosa	stomach
29	chr13:49673600-49677800	Weak transcription	Hela-S3	cervix
30	chr13:49673600-49681600	Weak transcription	HSMM	muscle
31	chr13:49673600-49681800	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr13:49673600-49682000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr13:49673600-49682000	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr13:49673600-49682200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr13:49673600-49683600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr13:49673600-49683800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr13:49673600-49683800	Weak transcription	GM12878-XiMat	blood
38	chr13:49673600-49684000	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr13:49673600-49684000	Weak transcription	Duodenum Mucosa	Duodenum
40	chr13:49673600-49684000	Weak transcription	HMEC	breast
41	chr13:49673600-49684000	Weak transcription	NH-A	brain
42	chr13:49673600-49684000	Weak transcription	NHLF	lung
43	chr13:49673600-49684000	Weak transcription	Osteobl	bone
44	chr13:49673600-49684200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr13:49673600-49684400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr13:49673800-49683800	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr13:49674000-49683800	Weak transcription	HUVEC	blood vessel
48	chr13:49674200-49675000	Weak transcription	Fetal Heart	heart
49	chr13:49674200-49675600	Flanking Active TSS	Liver	Liver

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