Variant report

Variant	rs2871243
Chromosome Location	chr2:99422473-99422474
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:99408337..99412495-chr2:99418942..99424150,7	MCF-7	breast:
2	chr2:99420757..99423586-chr2:99430934..99433054,2	MCF-7	breast:
3	chr2:99422357..99424127-chr2:99425278..99427119,2	MCF-7	breast:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs2090181	0.87[ASN][1000 genomes]
rs2203432	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[ASN][1000 genomes]
rs2871244	0.87[ASN][1000 genomes]
rs3731660	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4851160	0.87[ASN][1000 genomes]
rs57185248	0.81[ASN][1000 genomes]
rs58516468	0.81[ASN][1000 genomes]
rs58560917	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58676789	0.89[ASN][1000 genomes]
rs59083513	0.87[ASN][1000 genomes]
rs59313126	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59989465	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60496162	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61042973	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61311613	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61359279	1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs61402919	0.87[ASN][1000 genomes]
rs72811003	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72811004	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72811005	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72827717	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs72827722	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs72827724	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs72827726	0.81[ASN][1000 genomes]
rs72827727	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72827729	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72827731	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72827732	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72827733	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72827734	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72827736	0.85[ASN][1000 genomes]
rs72827739	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72827740	0.87[ASN][1000 genomes]
rs72827741	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72827742	0.87[ASN][1000 genomes]
rs72827743	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011278	chr2:99280928-99638376	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv535835	chr2:99280928-99638376	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99407600-99423800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr2:99409200-99425800	Weak transcription	Small Intestine	intestine
3	chr2:99409600-99426400	Weak transcription	Esophagus	oesophagus
4	chr2:99413800-99423800	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr2:99414000-99426600	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr2:99418000-99442200	Weak transcription	Stomach Mucosa	stomach
7	chr2:99418200-99423800	Weak transcription	Thymus	Thymus
8	chr2:99418800-99425000	Weak transcription	Fetal Intestine Small	intestine
9	chr2:99419800-99423400	Enhancers	HepG2	liver
10	chr2:99420000-99423400	Enhancers	Liver	Liver
11	chr2:99420000-99424000	Enhancers	Pancreas	Pancrea
12	chr2:99420200-99423400	Enhancers	Lung	lung
13	chr2:99420200-99425000	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr2:99420400-99423800	Enhancers	Fetal Muscle Leg	muscle
15	chr2:99420800-99424200	Enhancers	Fetal Heart	heart
16	chr2:99420800-99426800	Enhancers	Fetal Thymus	thymus
17	chr2:99421000-99424000	Enhancers	Left Ventricle	heart
18	chr2:99421200-99423000	Enhancers	Right Atrium	heart
19	chr2:99421200-99423200	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr2:99421200-99423400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
21	chr2:99421200-99423400	Enhancers	Primary B cells from cord blood	blood
22	chr2:99421200-99424000	Enhancers	Adipose Nuclei	Adipose
23	chr2:99421200-99425000	Enhancers	HMEC	breast
24	chr2:99421200-99427200	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr2:99421400-99422600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
26	chr2:99421400-99423200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr2:99421400-99423200	Enhancers	Placenta	Placenta
28	chr2:99421400-99423400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr2:99421400-99423600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
30	chr2:99421400-99424000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr2:99421600-99422800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr2:99421600-99422800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr2:99421600-99422800	Enhancers	Stomach Smooth Muscle	stomach
34	chr2:99421600-99422800	Enhancers	Hela-S3	cervix
35	chr2:99421600-99423200	Enhancers	NHEK	skin
36	chr2:99421600-99423600	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr2:99421600-99424000	Enhancers	Brain Hippocampus Middle	brain
38	chr2:99421600-99424000	Enhancers	Fetal Lung	lung
39	chr2:99421800-99422800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr2:99421800-99423000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr2:99421800-99423000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr2:99421800-99423000	Enhancers	Duodenum Smooth Muscle	Duodenum
43	chr2:99421800-99423200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr2:99421800-99423200	Enhancers	Fetal Stomach	stomach
45	chr2:99421800-99423400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr2:99421800-99423400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr2:99421800-99423400	Enhancers	Brain Cingulate Gyrus	brain
48	chr2:99421800-99423600	Weak transcription	Primary T cells from cord blood	blood
49	chr2:99421800-99423600	Enhancers	Brain Germinal Matrix	brain
50	chr2:99421800-99423800	Enhancers	Brain Substantia Nigra	brain

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