Variant report

Variant	rs927633
Chromosome Location	chr1:95056750-95056751
allele	A/G
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: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs1041041	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1041042	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1146473	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1146474	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1146476	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1146477	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1146480	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1146481	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1146482	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1146484	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1146485	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1146487	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1146489	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1146491	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1146492	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1146494	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1146496	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1146498	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1146500	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1146501	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11485356	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12075529	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12354005	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1245215	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1303132	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1303134	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1303135	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1303137	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1303138	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1303139	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1324217	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1612481	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1772904	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1772911	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1778205	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1778206	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1778207	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1778208	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1778223	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1778226	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2093843	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2762509	0.84[EUR][1000 genomes]
rs2794475	0.83[EUR][1000 genomes]
rs2794476	0.84[EUR][1000 genomes]
rs2794479	0.83[EUR][1000 genomes]
rs2985287	0.83[EUR][1000 genomes]
rs6668501	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs68169338	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs927634	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs927635	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs927636	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs968661	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs968662	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][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:42 , 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	chr1:95055000-95059200	Enhancers	Brain Cingulate Gyrus	brain
4	chr1:95055000-95061400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr1:95055000-95061600	Enhancers	Brain Anterior Caudate	brain
6	chr1:95055000-95062000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr1:95055200-95057600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:95055200-95057600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr1:95055200-95059200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr1:95055400-95056800	Enhancers	Fetal Heart	heart
11	chr1:95055400-95061800	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr1:95055600-95056800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:95055800-95056800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr1:95055800-95056800	Enhancers	Aorta	Aorta
15	chr1:95055800-95056800	Enhancers	NHDF-Ad	bronchial
16	chr1:95055800-95056800	Enhancers	NHLF	lung
17	chr1:95055800-95057600	Weak transcription	Brain Germinal Matrix	brain
18	chr1:95055800-95058200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr1:95056000-95056800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:95056000-95056800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr1:95056000-95056800	Enhancers	NH-A	brain
22	chr1:95056000-95057000	Weak transcription	Brain Hippocampus Middle	brain
23	chr1:95056000-95059000	Weak transcription	Placenta	Placenta
24	chr1:95056200-95057000	Weak transcription	Brain Substantia Nigra	brain
25	chr1:95056200-95058200	Weak transcription	Stomach Mucosa	stomach
26	chr1:95056200-95067800	Weak transcription	Gastric	stomach
27	chr1:95056400-95056800	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr1:95056400-95057800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr1:95056400-95060200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr1:95056400-95060600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr1:95056400-95061000	Weak transcription	Fetal Intestine Small	intestine
32	chr1:95056400-95061400	Weak transcription	Fetal Lung	lung
33	chr1:95056600-95056800	Enhancers	Right Atrium	heart
34	chr1:95056600-95057000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr1:95056600-95057600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr1:95056600-95058400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr1:95056600-95058600	Weak transcription	Fetal Stomach	stomach
38	chr1:95056600-95060000	Weak transcription	Hela-S3	cervix
39	chr1:95056600-95060600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr1:95056600-95060600	Weak transcription	Rectal Smooth Muscle	rectum
41	chr1:95056600-95060800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr1:95056600-95060800	Enhancers	Brain Inferior Temporal Lobe	brain

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