Variant report

Variant	rs771461
Chromosome Location	chr1:93816372-93816373
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:93809993..93812925-chr1:93814019..93816976,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000117505	Chromatin interaction
ENSG00000223745	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1081522	0.83[ASN][1000 genomes]
rs10874766	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11164896	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11164905	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11164908	0.82[ASN][1000 genomes]
rs12027142	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12031709	0.80[ASN][1000 genomes]
rs12033147	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12036057	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12038046	0.80[EUR][1000 genomes]
rs12045001	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12046063	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12563120	0.81[ASN][1000 genomes]
rs12563709	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12566752	0.82[ASN][1000 genomes]
rs1365297	0.82[ASN][1000 genomes]
rs2484486	0.80[EUR][1000 genomes]
rs2783505	0.80[EUR][1000 genomes]
rs28782525	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2893242	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3087457	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35628716	0.87[ASN][1000 genomes]
rs35910103	0.85[ASN][1000 genomes]
rs35915989	0.85[ASN][1000 genomes]
rs3904666	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4847425	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61266405	0.82[ASN][1000 genomes]
rs61799470	0.80[EUR][1000 genomes]
rs61799497	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61799517	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61799538	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs698927	0.87[ASN][1000 genomes]
rs771454	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs771458	0.87[ASN][1000 genomes]
rs771462	0.87[ASN][1000 genomes]
rs771465	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs771470	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs771476	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs771478	0.83[ASN][1000 genomes]
rs771479	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs771481	0.83[ASN][1000 genomes]
rs771482	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs810027	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs812214	0.82[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv871640	chr1:93807122-93953469	Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93809800-93817200	Active TSS	GM12878-XiMat	blood
2	chr1:93811600-93816600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr1:93812600-93817200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:93812800-93823800	Weak transcription	Spleen	Spleen
5	chr1:93812800-93831000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:93812800-93832200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:93813000-93817000	Weak transcription	Esophagus	oesophagus
8	chr1:93813000-93817000	Weak transcription	Lung	lung
9	chr1:93813000-93817000	Weak transcription	Pancreas	Pancrea
10	chr1:93813000-93823800	Weak transcription	Gastric	stomach
11	chr1:93813400-93816600	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr1:93813400-93817000	Weak transcription	Left Ventricle	heart
13	chr1:93813400-93817000	Weak transcription	Ovary	ovary
14	chr1:93813400-93820200	Weak transcription	Fetal Muscle Trunk	muscle
15	chr1:93813400-93840000	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr1:93813400-93840400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr1:93814200-93816600	Enhancers	Brain Cingulate Gyrus	brain
18	chr1:93814200-93816800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
19	chr1:93814200-93816800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr1:93814200-93817000	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr1:93814200-93819200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr1:93814200-93823600	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr1:93814200-93823800	Weak transcription	Right Ventricle	heart
24	chr1:93814400-93816800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr1:93814400-93817000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr1:93814400-93818000	Weak transcription	Placenta	Placenta
27	chr1:93814600-93816600	Enhancers	Fetal Brain Male	brain
28	chr1:93814600-93819600	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr1:93814800-93816400	Weak transcription	Colonic Mucosa	Colon
30	chr1:93814800-93817000	Genic enhancers	Primary B cells from cord blood	blood
31	chr1:93814800-93817400	Enhancers	Colon Smooth Muscle	Colon
32	chr1:93814800-93820400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr1:93815000-93820200	Weak transcription	Stomach Smooth Muscle	stomach
34	chr1:93815200-93816600	Enhancers	Fetal Intestine Small	intestine
35	chr1:93815200-93816600	Enhancers	Fetal Lung	lung
36	chr1:93815200-93816800	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr1:93815200-93816800	Transcr. at gene 5' and 3'	Dnd41	blood
38	chr1:93815200-93817400	Transcr. at gene 5' and 3'	K562	blood
39	chr1:93815200-93818400	Enhancers	Brain Substantia Nigra	brain
40	chr1:93815200-93819400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr1:93815200-93821800	Weak transcription	Fetal Stomach	stomach
42	chr1:93815400-93816400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr1:93815400-93816800	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr1:93815400-93816800	Flanking Active TSS	NHEK	skin
45	chr1:93815400-93817400	Genic enhancers	Primary monocytes fromperipheralblood	blood
46	chr1:93815400-93819400	Weak transcription	A549	lung
47	chr1:93815400-93839800	Weak transcription	Aorta	Aorta
48	chr1:93815600-93816400	Genic enhancers	HUES48 Cell Line	embryonic stem cell
49	chr1:93815600-93816400	Genic enhancers	NH-A	brain
50	chr1:93815600-93816600	Genic enhancers	HUES64 Cell Line	embryonic stem cell

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