Variant report

Variant	rs2997379
Chromosome Location	chr1:95189009-95189010
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:95187400..95190207-chr1:95191116..95193484,2	MCF-7	breast:

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10874887	0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10874889	0.89[ASN][1000 genomes]
rs11165226	0.83[ASN][1000 genomes]
rs11165228	0.89[ASN][1000 genomes]
rs11165229	0.81[ASN][1000 genomes]
rs11582204	0.83[ASN][1000 genomes]
rs12131775	0.82[ASN][1000 genomes]
rs12131798	0.84[ASN][1000 genomes]
rs12134786	0.81[ASN][1000 genomes]
rs12140396	0.81[ASN][1000 genomes]
rs12752621	0.89[ASN][1000 genomes]
rs1532250	0.83[ASN][1000 genomes]
rs1532251	0.83[ASN][1000 genomes]
rs1532252	0.83[ASN][1000 genomes]
rs1689170	0.81[ASN][1000 genomes]
rs17112194	0.81[ASN][1000 genomes]
rs2055076	0.85[ASN][1000 genomes]
rs2640061	0.83[ASN][1000 genomes]
rs2640062	0.83[ASN][1000 genomes]
rs2640063	0.83[ASN][1000 genomes]
rs2802097	0.83[ASN][1000 genomes]
rs2802098	0.83[ASN][1000 genomes]
rs2802099	0.83[ASN][1000 genomes]
rs2802100	0.83[ASN][1000 genomes]
rs2802101	0.83[ASN][1000 genomes]
rs2802102	0.83[ASN][1000 genomes]
rs2802103	0.85[ASN][1000 genomes]
rs2933916	0.83[ASN][1000 genomes]
rs2933917	0.83[ASN][1000 genomes]
rs2997377	0.83[ASN][1000 genomes]
rs2997378	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2997380	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34730054	0.89[ASN][1000 genomes]
rs3933012	0.83[ASN][1000 genomes]
rs4294425	0.81[ASN][1000 genomes]
rs4294426	0.81[ASN][1000 genomes]
rs4311897	0.81[ASN][1000 genomes]
rs4543803	0.80[ASN][1000 genomes]
rs4565724	0.87[ASN][1000 genomes]
rs4847348	0.83[ASN][1000 genomes]
rs4847349	0.89[ASN][1000 genomes]
rs4847350	0.89[ASN][1000 genomes]
rs4847351	0.89[ASN][1000 genomes]
rs4847352	0.81[ASN][1000 genomes]
rs56053685	0.81[ASN][1000 genomes]
rs56146225	0.81[ASN][1000 genomes]
rs61339702	0.81[ASN][1000 genomes]
rs61684001	0.81[ASN][1000 genomes]
rs6541362	0.88[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	nsv1001587	chr1:95027691-95318680	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
2	nsv871916	chr1:95143999-95189230	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95152800-95195000	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr1:95168200-95200400	Weak transcription	Pancreas	Pancrea
3	chr1:95169400-95200400	Weak transcription	Colonic Mucosa	Colon
4	chr1:95173400-95200600	Weak transcription	Right Atrium	heart
5	chr1:95175800-95192600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr1:95175800-95193000	Weak transcription	Fetal Stomach	stomach
7	chr1:95176200-95189200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:95179600-95193800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr1:95180000-95189200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:95180200-95189600	Weak transcription	NHDF-Ad	bronchial
11	chr1:95181400-95189400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr1:95182600-95191000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:95183000-95189200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr1:95184400-95190000	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr1:95184400-95190800	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr1:95185000-95190400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr1:95185400-95190000	Enhancers	Primary hematopoietic stem cells	blood
18	chr1:95186200-95211400	Weak transcription	Gastric	stomach
19	chr1:95187000-95193800	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr1:95187400-95190000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr1:95187400-95191800	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr1:95188000-95189200	Weak transcription	Left Ventricle	heart
23	chr1:95188000-95189200	Weak transcription	Lung	lung
24	chr1:95188000-95189400	Weak transcription	Fetal Thymus	thymus
25	chr1:95188000-95190600	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr1:95188800-95189400	Genic enhancers	Fetal Intestine Small	intestine
27	chr1:95188800-95189800	Enhancers	Spleen	Spleen
28	chr1:95188800-95190600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr1:95189000-95189600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr1:95189000-95189800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr1:95189000-95190000	Enhancers	Primary B cells from cord blood	blood
32	chr1:95189000-95190200	Enhancers	Placenta Amnion	Placenta Amnion
33	chr1:95189000-95190600	Enhancers	Fetal Intestine Large	intestine

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