Variant report

Variant	rs2018373
Chromosome Location	chr6:35214971-35214972
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:35165480..35167314-chr6:35214430..35217292,2	MCF-7	breast:
2	chr6:35213830..35215728-chr6:35248385..35249951,2	K562	blood:
3	chr6:35214367..35216287-chr6:35225252..35228321,3	K562	blood:
4	chr6:35209581..35211812-chr6:35214275..35216515,3	K562	blood:

Variant related genes	Relation type
ENSG00000065029	Chromatin interaction

Extended variants
information (count: 110 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:107)

rs_ID	r²[population]
rs10080361	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1013907	0.91[ASN][1000 genomes]
rs10755687	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10807150	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10947540	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10947542	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1108709	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1194	0.92[ASN][1000 genomes]
rs12211765	0.81[ASN][1000 genomes]
rs13214290	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1557567	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1557568	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1590381	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1888822	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1888823	0.92[ASN][1000 genomes]
rs1888824	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1888825	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1894650	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1894651	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1894652	0.87[ASN][1000 genomes]
rs1894653	0.87[ASN][1000 genomes]
rs1929847	0.92[ASN][1000 genomes]
rs1929849	0.90[ASN][1000 genomes]
rs1987673	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2006184	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2071920	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2183834	0.86[ASN][1000 genomes]
rs2267657	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2267658	0.91[ASN][1000 genomes]
rs2267660	0.88[ASN][1000 genomes]
rs2267661	0.88[ASN][1000 genomes]
rs2267662	0.92[ASN][1000 genomes]
rs2267663	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2284195	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2395614	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34156110	0.87[EUR][1000 genomes]
rs3777742	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3777743	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3798342	0.88[ASN][1000 genomes]
rs3800382	0.88[ASN][1000 genomes]
rs3800383	0.87[ASN][1000 genomes]
rs3800385	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3800386	0.85[ASN][1000 genomes]
rs3800387	0.85[ASN][1000 genomes]
rs3800388	0.85[ASN][1000 genomes]
rs3800392	0.89[ASN][1000 genomes]
rs3800393	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3800396	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3800398	0.83[ASN][1000 genomes]
rs3800399	0.83[ASN][1000 genomes]
rs3800401	0.87[EUR][1000 genomes]
rs4583983	0.81[ASN][1000 genomes]
rs4711409	0.91[ASN][1000 genomes]
rs4711411	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4711413	0.87[ASN][1000 genomes]
rs4711414	0.92[ASN][1000 genomes]
rs4713841	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4713845	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4713848	0.86[ASN][1000 genomes]
rs58925593	0.88[ASN][1000 genomes]
rs62403575	0.92[ASN][1000 genomes]
rs6457812	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs68164647	0.83[ASN][1000 genomes]
rs6902523	0.92[ASN][1000 genomes]
rs6907324	0.92[ASN][1000 genomes]
rs6907364	0.84[EUR][1000 genomes]
rs6907573	0.86[ASN][1000 genomes]
rs6907795	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6913037	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6913941	0.83[ASN][1000 genomes]
rs6916364	0.83[ASN][1000 genomes]
rs6920747	0.92[ASN][1000 genomes]
rs6927730	0.83[ASN][1000 genomes]
rs6928769	0.89[ASN][1000 genomes]
rs6938946	0.90[ASN][1000 genomes]
rs6940375	0.84[EUR][1000 genomes]
rs6941471	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72909061	0.89[ASN][1000 genomes]
rs7763946	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7769906	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7772212	0.92[ASN][1000 genomes]
rs8205	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs914547	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9296144	0.92[ASN][1000 genomes]
rs9348970	0.82[EUR][1000 genomes]
rs9366882	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9366883	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9366885	0.81[ASN][1000 genomes]
rs9368854	0.85[ASN][1000 genomes]
rs9368857	0.88[ASN][1000 genomes]
rs9380497	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9380498	0.83[ASN][1000 genomes]
rs9380501	0.92[ASN][1000 genomes]
rs9380502	0.83[ASN][1000 genomes]
rs9394283	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9394289	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9462065	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9469958	0.82[EUR][1000 genomes]
rs9469964	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9469972	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9469975	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9469979	0.94[ASN][1000 genomes]
rs9469982	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs965272	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs968828	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs975496	0.92[ASN][1000 genomes]
rs991145	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3428128	chr6:35150524-35225843	Bivalent Enhancer Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv2758047	chr6:35168116-35291002	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	esv2759419	chr6:35168116-35291002	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:35191400-35226000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:35194000-35225600	Weak transcription	Primary B cells from cord blood	blood
3	chr6:35199400-35216200	Weak transcription	Brain Substantia Nigra	brain
4	chr6:35199600-35215600	Weak transcription	Hela-S3	cervix
5	chr6:35199600-35226600	Weak transcription	Esophagus	oesophagus
6	chr6:35199800-35226200	Weak transcription	Pancreas	Pancrea
7	chr6:35200600-35225000	Weak transcription	Fetal Brain Male	brain
8	chr6:35201400-35226200	Weak transcription	Stomach Mucosa	stomach
9	chr6:35202600-35225800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr6:35203400-35226000	Weak transcription	HSMMtube	muscle
11	chr6:35204400-35215400	Weak transcription	GM12878-XiMat	blood
12	chr6:35205600-35226000	Weak transcription	HSMM	muscle
13	chr6:35206000-35215400	Weak transcription	K562	blood
14	chr6:35206600-35215600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr6:35206800-35216000	Strong transcription	Osteobl	bone
16	chr6:35207000-35215800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr6:35207400-35226200	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr6:35207800-35224000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr6:35208000-35215800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr6:35208000-35216000	Weak transcription	HUVEC	blood vessel
21	chr6:35208200-35226000	Weak transcription	Primary hematopoietic stem cells	blood
22	chr6:35208400-35226000	Weak transcription	NHEK	skin
23	chr6:35208600-35220200	Strong transcription	Fetal Stomach	stomach
24	chr6:35209000-35216800	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr6:35209000-35217400	Weak transcription	Colonic Mucosa	Colon
26	chr6:35209200-35216400	Weak transcription	Brain Cingulate Gyrus	brain
27	chr6:35209400-35216200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr6:35209400-35216200	Weak transcription	Colon Smooth Muscle	Colon
29	chr6:35209600-35216200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr6:35209600-35216400	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr6:35209600-35216800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr6:35209800-35216600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr6:35209800-35220000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr6:35209800-35226400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr6:35210000-35217000	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr6:35210200-35215600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr6:35210400-35219000	Weak transcription	Placenta	Placenta
38	chr6:35210600-35215600	Weak transcription	Duodenum Mucosa	Duodenum
39	chr6:35210600-35225400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr6:35211000-35226000	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr6:35212000-35216800	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr6:35212200-35215000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr6:35212400-35226000	Weak transcription	Primary B cells from peripheral blood	blood
44	chr6:35212800-35216000	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr6:35213000-35215600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr6:35213000-35215600	Weak transcription	Fetal Heart	heart
47	chr6:35213200-35216000	Weak transcription	Brain Hippocampus Middle	brain
48	chr6:35213200-35226200	Weak transcription	Gastric	stomach
49	chr6:35213400-35215600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr6:35213400-35216200	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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