Variant report

Variant	rs927636
Chromosome Location	chr1:95056425-95056426
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	chr1:95007807..95010747-chr1:95056056..95057592,2	MCF-7	breast:
2	chr1:95054539..95057690-chr1:95058025..95060713,3	K562	blood:

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs1041041	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1041042	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1146473	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1146474	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1146476	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1146477	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1146480	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1146481	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1146482	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1146484	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1146485	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1146487	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1146489	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1146491	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1146492	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1146494	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1146496	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1146498	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1146500	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1146501	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11485356	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12075529	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12354005	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1245215	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1303132	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1303134	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1303135	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1303137	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1303138	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1303139	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1324217	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1408341	0.88[ASN][1000 genomes]
rs1578535	0.84[ASN][1000 genomes]
rs1612481	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1772904	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1772911	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1778205	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1778206	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1778207	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1778208	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1778223	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1778226	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2093843	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2762509	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2794475	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2794476	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2794479	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2971946	0.80[ASN][1000 genomes]
rs2971947	0.83[ASN][1000 genomes]
rs2985287	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6668501	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs68169338	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs927633	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs927634	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs927635	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs968661	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs968662	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv870696	chr1:95005220-95081587	Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv871391	chr1:95005220-95083836	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	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
4	nsv871279	chr1:95028981-95083836	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv1804937	chr1:95051930-95081587	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95046000-95065400	Weak transcription	Fetal Intestine Large	intestine
2	chr1:95053800-95057800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:95055000-95056600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
4	chr1:95055000-95056600	Enhancers	Fetal Stomach	stomach
5	chr1:95055000-95059200	Enhancers	Brain Cingulate Gyrus	brain
6	chr1:95055000-95061400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr1:95055000-95061600	Enhancers	Brain Anterior Caudate	brain
8	chr1:95055000-95062000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr1:95055200-95057600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:95055200-95057600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr1:95055200-95059200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:95055400-95056600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr1:95055400-95056800	Enhancers	Fetal Heart	heart
14	chr1:95055400-95061800	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr1:95055600-95056600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:95055600-95056600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr1:95055600-95056600	Enhancers	Rectal Smooth Muscle	rectum
18	chr1:95055600-95056800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:95055800-95056600	Enhancers	Colon Smooth Muscle	Colon
20	chr1:95055800-95056600	Enhancers	Left Ventricle	heart
21	chr1:95055800-95056600	Enhancers	Hela-S3	cervix
22	chr1:95055800-95056800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr1:95055800-95056800	Enhancers	Aorta	Aorta
24	chr1:95055800-95056800	Enhancers	NHDF-Ad	bronchial
25	chr1:95055800-95056800	Enhancers	NHLF	lung
26	chr1:95055800-95057600	Weak transcription	Brain Germinal Matrix	brain
27	chr1:95055800-95058200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr1:95056000-95056600	Enhancers	Ovary	ovary
29	chr1:95056000-95056600	Enhancers	Right Ventricle	heart
30	chr1:95056000-95056600	Enhancers	HSMM	muscle
31	chr1:95056000-95056600	Enhancers	Osteobl	bone
32	chr1:95056000-95056800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:95056000-95056800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr1:95056000-95056800	Enhancers	NH-A	brain
35	chr1:95056000-95057000	Weak transcription	Brain Hippocampus Middle	brain
36	chr1:95056000-95059000	Weak transcription	Placenta	Placenta
37	chr1:95056200-95056600	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr1:95056200-95056600	Weak transcription	Right Atrium	heart
39	chr1:95056200-95057000	Weak transcription	Brain Substantia Nigra	brain
40	chr1:95056200-95058200	Weak transcription	Stomach Mucosa	stomach
41	chr1:95056200-95067800	Weak transcription	Gastric	stomach
42	chr1:95056400-95056600	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr1:95056400-95056600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr1:95056400-95056800	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr1:95056400-95057800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr1:95056400-95060200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr1:95056400-95060600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr1:95056400-95061000	Weak transcription	Fetal Intestine Small	intestine
49	chr1:95056400-95061400	Weak transcription	Fetal Lung	lung

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