Variant report

Variant	rs288277
Chromosome Location	chr2:183590537-183590538
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:183579800..183581511-chr2:183589352..183592119,2	MCF-7	breast:
2	chr2:183589155..183591110-chr2:183597829..183599680,2	K562	blood:
3	chr2:183579751..183583297-chr2:183584995..183591341,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000077232	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10167605	0.81[EUR][1000 genomes]
rs11892187	0.87[EUR][1000 genomes]
rs11892516	0.87[EUR][1000 genomes]
rs13399663	0.84[EUR][1000 genomes]
rs13411826	0.87[EUR][1000 genomes]
rs13414223	0.88[ASN][1000 genomes]
rs13415935	0.81[EUR][1000 genomes]
rs16823660	0.85[ASN][1000 genomes]
rs1881097	0.91[ASN][1000 genomes]
rs1881098	0.91[ASN][1000 genomes]
rs288279	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs288284	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs288286	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs288297	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs288298	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs288333	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs288345	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6731059	0.87[EUR][1000 genomes]
rs6751322	0.87[EUR][1000 genomes]
rs7593637	0.84[AMR][1000 genomes];0.87[EUR][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	nsv1009882	chr2:183213152-184171519	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	esv2757842	chr2:183437700-183835084	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv2759104	chr2:183437700-183835084	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv2756954	chr2:183528670-183764930	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv875483	chr2:183537399-183657867	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	esv34847	chr2:183537399-183786763	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	esv3693445	chr2:183542825-183725221	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183581600-183609600	Weak transcription	Spleen	Spleen
2	chr2:183581800-183590600	Weak transcription	Left Ventricle	heart
3	chr2:183581800-183591400	Weak transcription	Psoas Muscle	Psoas
4	chr2:183581800-183601200	Weak transcription	Colon Smooth Muscle	Colon
5	chr2:183581800-183601800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:183581800-183602000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr2:183581800-183606800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr2:183581800-183607000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:183581800-183614600	Weak transcription	Right Ventricle	heart
10	chr2:183581800-183622600	Weak transcription	Colonic Mucosa	Colon
11	chr2:183581800-183631000	Weak transcription	Esophagus	oesophagus
12	chr2:183581800-183647600	Weak transcription	Gastric	stomach
13	chr2:183581800-183655600	Weak transcription	Pancreas	Pancrea
14	chr2:183582000-183596200	Weak transcription	HSMMtube	muscle
15	chr2:183582000-183605200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr2:183582400-183596400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr2:183582400-183601600	Weak transcription	Fetal Brain Female	brain
18	chr2:183582400-183601600	Weak transcription	Thymus	Thymus
19	chr2:183582400-183606800	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr2:183582400-183608800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr2:183582400-183608800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr2:183582400-183610000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:183582600-183596000	Weak transcription	Brain Substantia Nigra	brain
24	chr2:183582600-183596400	Weak transcription	K562	blood
25	chr2:183582600-183601600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr2:183582600-183601800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr2:183582600-183601800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr2:183582600-183602800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr2:183582600-183606800	Weak transcription	Rectal Smooth Muscle	rectum
30	chr2:183582600-183606800	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr2:183582600-183608600	Weak transcription	Brain Cingulate Gyrus	brain
32	chr2:183582600-183608800	Weak transcription	Fetal Heart	heart
33	chr2:183582600-183610600	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr2:183582600-183624400	Weak transcription	Stomach Mucosa	stomach
35	chr2:183582800-183601800	Weak transcription	NHLF	lung
36	chr2:183582800-183605200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr2:183582800-183610000	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr2:183582800-183610000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
39	chr2:183582800-183614600	Weak transcription	Fetal Brain Male	brain
40	chr2:183583000-183597600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr2:183583000-183601400	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr2:183583000-183605200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr2:183583000-183608400	Weak transcription	Hela-S3	cervix
44	chr2:183583200-183605400	Weak transcription	Brain Angular Gyrus	brain
45	chr2:183583400-183591200	Weak transcription	Aorta	Aorta
46	chr2:183584000-183591800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr2:183584000-183597600	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr2:183584200-183590600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr2:183584200-183594800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr2:183584200-183610400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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