Variant report

Variant	rs2181538
Chromosome Location	chr13:49670820-49670821
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:49668884..49671428-chr13:50017958..50020169,2	MCF-7	breast:
2	chr13:49549495..49551590-chr13:49668953..49673259,5	MCF-7	breast:
3	chr13:49549107..49552460-chr13:49669963..49673949,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000102531	Chromatin interaction
ENSG00000136169	Chromatin interaction
ENSG00000102547	Chromatin interaction

Extended variants
information (count: 105 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:100)

rs_ID	r²[population]
rs12872974	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1359066	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1407827	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1407829	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1928109	0.82[EUR][1000 genomes]
rs1928110	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1937180	0.83[EUR][1000 genomes]
rs1937181	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1983805	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2021622	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2026029	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2146748	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2149498	0.83[EUR][1000 genomes]
rs2181537	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2181539	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2183095	0.82[EUR][1000 genomes]
rs2224742	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2407265	0.83[EUR][1000 genomes]
rs2407266	0.82[EUR][1000 genomes]
rs2897633	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2987528	0.82[EUR][1000 genomes]
rs2987535	0.80[EUR][1000 genomes]
rs2994377	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2994378	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2994379	0.86[EUR][1000 genomes]
rs2994380	0.86[EUR][1000 genomes]
rs2994381	0.86[EUR][1000 genomes]
rs3012116	0.82[EUR][1000 genomes]
rs3012117	0.82[EUR][1000 genomes]
rs3012118	0.82[EUR][1000 genomes]
rs3012121	0.82[EUR][1000 genomes]
rs3012127	0.86[EUR][1000 genomes]
rs3012135	0.80[EUR][1000 genomes]
rs3012136	0.80[EUR][1000 genomes]
rs34360275	0.90[EUR][1000 genomes]
rs35018425	0.82[EUR][1000 genomes]
rs4142065	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4245350	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4530025	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4942795	0.81[EUR][1000 genomes]
rs4942796	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4942798	0.85[EUR][1000 genomes]
rs4942799	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4942800	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6561491	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6561493	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6561496	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6561497	0.88[ASN][1000 genomes]
rs6561504	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7139819	0.85[EUR][1000 genomes]
rs7139854	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs716722	0.81[EUR][1000 genomes]
rs728075	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7317908	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7318871	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7328000	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7329291	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7331917	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7333097	1.00[ASN][1000 genomes]
rs7333285	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7338529	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7983885	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7986624	0.85[EUR][1000 genomes]
rs7987258	0.86[AMR][1000 genomes]
rs7988168	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7989175	1.00[ASN][1000 genomes]
rs7990573	0.92[EUR][1000 genomes]
rs7994845	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7994910	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7995616	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7997118	0.83[EUR][1000 genomes]
rs7998359	0.82[EUR][1000 genomes]
rs7999513	0.83[EUR][1000 genomes]
rs9316426	0.83[EUR][1000 genomes]
rs9316428	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9316429	0.83[ASN][1000 genomes]
rs9526517	0.84[AMR][1000 genomes]
rs9526518	0.85[EUR][1000 genomes]
rs9526520	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9526521	0.82[EUR][1000 genomes]
rs9526525	0.82[EUR][1000 genomes]
rs9535126	0.80[EUR][1000 genomes]
rs9535133	0.85[EUR][1000 genomes]
rs9535136	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9535140	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9535141	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9535145	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9535146	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9535147	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9535149	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9535154	0.91[EUR][1000 genomes]
rs9535155	0.82[EUR][1000 genomes]
rs9535156	0.85[EUR][1000 genomes]
rs9562866	0.85[EUR][1000 genomes]
rs9562870	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9568150	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9568151	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9568154	0.90[ASN][1000 genomes]
rs9591235	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9596064	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49627400-49672400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr13:49639600-49687200	Weak transcription	Pancreas	Pancrea
3	chr13:49640600-49683800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr13:49641800-49671600	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr13:49645000-49671000	Weak transcription	Small Intestine	intestine
6	chr13:49649400-49684200	Weak transcription	Right Ventricle	heart
7	chr13:49649800-49671600	Weak transcription	Brain Hippocampus Middle	brain
8	chr13:49651800-49671000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr13:49651800-49671800	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr13:49651800-49684000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr13:49651800-49684000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr13:49652000-49671000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr13:49652400-49671600	Weak transcription	Spleen	Spleen
14	chr13:49655600-49684200	Weak transcription	Primary B cells from peripheral blood	blood
15	chr13:49656000-49673000	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr13:49657200-49671600	Weak transcription	Ovary	ovary
17	chr13:49657200-49672200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr13:49657200-49692400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr13:49657400-49671200	Weak transcription	HSMM	muscle
20	chr13:49657400-49671600	Weak transcription	Left Ventricle	heart
21	chr13:49657400-49674800	Weak transcription	Fetal Intestine Large	intestine
22	chr13:49657400-49674800	Weak transcription	Placenta	Placenta
23	chr13:49657400-49684000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr13:49657800-49683800	Weak transcription	Primary B cells from cord blood	blood
25	chr13:49658000-49671000	Weak transcription	HSMMtube	muscle
26	chr13:49658000-49671400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr13:49658800-49671600	Weak transcription	Colon Smooth Muscle	Colon
28	chr13:49659400-49672800	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr13:49660000-49683600	Weak transcription	Primary T cells from cord blood	blood
30	chr13:49660800-49671200	Weak transcription	NHLF	lung
31	chr13:49664000-49684000	Weak transcription	Primary hematopoietic stem cells	blood
32	chr13:49665200-49684000	Weak transcription	Fetal Stomach	stomach
33	chr13:49666200-49684200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr13:49666400-49682400	Weak transcription	Fetal Intestine Small	intestine
35	chr13:49666600-49671400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr13:49667000-49672600	Enhancers	Pancreatic Islets	Pancreatic Islet
37	chr13:49667800-49671000	Weak transcription	HepG2	liver
38	chr13:49667800-49671800	Weak transcription	A549	lung
39	chr13:49669400-49671400	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr13:49669800-49672400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr13:49669800-49673600	Enhancers	Hela-S3	cervix
42	chr13:49669800-49673600	Enhancers	NHDF-Ad	bronchial
43	chr13:49670000-49673400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr13:49670200-49671000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr13:49670200-49671200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr13:49670200-49672400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr13:49670200-49673600	Enhancers	Muscle Satellite Cultured Cells	--
48	chr13:49670600-49673600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr13:49670600-49673600	Genic enhancers	GM12878-XiMat	blood
50	chr13:49670600-49673600	Enhancers	Osteobl	bone

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