Variant report

Variant	rs7571186
Chromosome Location	chr2:100098541-100098542
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:100092416..100102947-chr2:100103557..100108181,19	MCF-7	breast:
2	chr2:100082529..100085149-chr2:100097513..100099480,2	K562	blood:

Variant related genes	Relation type
ENSG00000135945	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11542367	1.00[EUR][1000 genomes]
rs17022584	0.80[YRI][hapmap];1.00[EUR][1000 genomes]
rs17022741	1.00[AMR][1000 genomes]
rs2167339	0.83[AMR][1000 genomes]
rs3087387	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55720283	1.00[EUR][1000 genomes]
rs56364129	1.00[EUR][1000 genomes]
rs56684522	0.83[AMR][1000 genomes]
rs57093686	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs57599963	0.83[AMR][1000 genomes]
rs57668619	0.83[AMR][1000 genomes]
rs57969550	0.83[AMR][1000 genomes]
rs58226642	1.00[AMR][1000 genomes]
rs58780429	0.83[AMR][1000 genomes]
rs59311105	1.00[AMR][1000 genomes]
rs59753430	1.00[AMR][1000 genomes]
rs59859749	1.00[AMR][1000 genomes]
rs60633946	1.00[AMR][1000 genomes]
rs61098335	1.00[EUR][1000 genomes]
rs6707685	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6723062	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6761053	1.00[AMR][1000 genomes]
rs6761507	1.00[AMR][1000 genomes]
rs73964150	1.00[AMR][1000 genomes]
rs73964151	0.83[AMR][1000 genomes]
rs73964152	1.00[AMR][1000 genomes]
rs73964155	1.00[AMR][1000 genomes]
rs73964157	0.83[AMR][1000 genomes]
rs73964158	1.00[AMR][1000 genomes]
rs73964815	1.00[EUR][1000 genomes]
rs7568990	1.00[AMR][1000 genomes]
rs7570405	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7595242	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431424	chr2:99652682-100494682	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv962113	chr2:100022168-100317461	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv874700	chr2:100062163-100099989	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv535841	chr2:100072790-100112121	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	esv1811477	chr2:100089078-100105013	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
6	esv1810220	chr2:100094799-100105013	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
7	esv1806302	chr2:100094799-100123030	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100075200-100103000	Weak transcription	Hela-S3	cervix
2	chr2:100076200-100105000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:100076600-100104200	Weak transcription	NHLF	lung
4	chr2:100078800-100101400	Weak transcription	Fetal Lung	lung
5	chr2:100078800-100103000	Weak transcription	Primary B cells from cord blood	blood
6	chr2:100078800-100105000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr2:100079200-100104000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr2:100080400-100103200	Weak transcription	Fetal Stomach	stomach
9	chr2:100080800-100103200	Weak transcription	HSMM	muscle
10	chr2:100085600-100103000	Weak transcription	Brain Cingulate Gyrus	brain
11	chr2:100086000-100102000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr2:100086400-100102000	Weak transcription	Thymus	Thymus
13	chr2:100088000-100104800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr2:100089200-100099800	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr2:100089600-100102200	Weak transcription	Fetal Thymus	thymus
16	chr2:100090800-100101800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr2:100091400-100103200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr2:100091800-100103400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr2:100092200-100101600	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr2:100092600-100098600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr2:100092600-100100400	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr2:100092600-100103600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr2:100092600-100104200	Weak transcription	Osteobl	bone
24	chr2:100092800-100103600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr2:100092800-100104600	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr2:100092800-100105000	Weak transcription	Placenta	Placenta
27	chr2:100093400-100098600	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr2:100093400-100098600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr2:100093800-100102000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr2:100094000-100101200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:100094000-100103400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr2:100094200-100101200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr2:100094800-100104800	Weak transcription	Colonic Mucosa	Colon
34	chr2:100095200-100103400	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr2:100095400-100100400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr2:100095400-100103400	Weak transcription	HUVEC	blood vessel
37	chr2:100095600-100100600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr2:100095600-100103000	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr2:100095600-100103400	Weak transcription	Primary B cells from peripheral blood	blood
40	chr2:100095600-100103600	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr2:100095600-100103600	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr2:100096200-100098600	Weak transcription	Primary hematopoietic stem cells	blood
43	chr2:100096600-100098800	Enhancers	Fetal Heart	heart
44	chr2:100096600-100099000	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr2:100096600-100099200	Enhancers	Brain Anterior Caudate	brain
46	chr2:100096600-100101800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr2:100096800-100102400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr2:100097000-100099000	Enhancers	Fetal Intestine Large	intestine
49	chr2:100097000-100102200	Weak transcription	Small Intestine	intestine
50	chr2:100097200-100103000	Weak transcription	NH-A	brain

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