Variant report

Variant	rs1282948
Chromosome Location	chr3:111631564-111631565
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	chr3:111627070..111629244-chr3:111631069..111632880,2	MCF-7	breast:

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10934123	0.95[JPT][hapmap]
rs10934124	0.89[ASN][1000 genomes]
rs10934125	0.90[ASN][1000 genomes]
rs12487003	0.90[ASN][1000 genomes]
rs12491508	0.95[JPT][hapmap]
rs12493285	0.90[ASN][1000 genomes]
rs12495997	0.90[JPT][hapmap]
rs1282938	0.85[ASN][1000 genomes]
rs1282944	0.95[JPT][hapmap]
rs1282955	0.89[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1282956	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1282957	0.91[ASN][1000 genomes]
rs1282958	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1282960	0.84[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1282961	0.89[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs13065448	0.94[JPT][hapmap]
rs1500044	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1587456	0.85[ASN][1000 genomes]
rs1709211	0.91[ASN][1000 genomes]
rs2137898	0.90[ASN][1000 genomes]
rs2175907	0.90[ASN][1000 genomes]
rs2175908	0.88[ASN][1000 genomes]
rs3749297	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs6438021	0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs6784285	0.95[JPT][hapmap]
rs7618841	0.88[ASN][1000 genomes]
rs955566	0.90[ASN][1000 genomes]
rs968825	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs9857092	0.80[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1282948	CD96	cis	parietal	SCAN

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:111591600-111633200	Weak transcription	Fetal Kidney	kidney
2	chr3:111604000-111632200	Weak transcription	Gastric	stomach
3	chr3:111604400-111632200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr3:111604800-111632000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr3:111617600-111631800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr3:111620000-111643200	Weak transcription	Esophagus	oesophagus
7	chr3:111621800-111632200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr3:111623400-111641200	Weak transcription	Lung	lung
9	chr3:111623800-111640200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr3:111624600-111632800	Enhancers	Fetal Heart	heart
11	chr3:111624600-111643200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr3:111626400-111632200	Weak transcription	HepG2	liver
13	chr3:111626600-111632000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr3:111627800-111632000	Weak transcription	Fetal Stomach	stomach
15	chr3:111628400-111632200	Weak transcription	Fetal Muscle Trunk	muscle
16	chr3:111628400-111641600	Weak transcription	Spleen	Spleen
17	chr3:111628600-111632000	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr3:111628600-111632200	Enhancers	A549	lung
19	chr3:111629400-111636200	Weak transcription	Psoas Muscle	Psoas
20	chr3:111629600-111642800	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr3:111629800-111631800	Weak transcription	Liver	Liver
22	chr3:111629800-111631800	Weak transcription	Placenta	Placenta
23	chr3:111629800-111632200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr3:111629800-111642800	Weak transcription	Stomach Mucosa	stomach
25	chr3:111630000-111632400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr3:111630000-111634200	Strong transcription	NHEK	skin
27	chr3:111630200-111637400	Weak transcription	Aorta	Aorta
28	chr3:111630200-111641400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr3:111630400-111631600	Enhancers	HSMM	muscle
30	chr3:111630400-111631800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr3:111630400-111632200	Weak transcription	Primary B cells from cord blood	blood
32	chr3:111630400-111632200	Weak transcription	Duodenum Mucosa	Duodenum
33	chr3:111630400-111632200	Weak transcription	HUVEC	blood vessel
34	chr3:111630400-111634800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr3:111630600-111631600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr3:111630600-111631600	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr3:111630600-111631600	Weak transcription	Left Ventricle	heart
38	chr3:111630600-111631800	Weak transcription	Fetal Muscle Leg	muscle
39	chr3:111630600-111631800	Weak transcription	Rectal Smooth Muscle	rectum
40	chr3:111630600-111632000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr3:111630600-111632000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr3:111630600-111632200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr3:111630600-111632200	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr3:111630600-111632200	Weak transcription	Ovary	ovary
45	chr3:111630600-111632200	Weak transcription	Right Ventricle	heart
46	chr3:111630600-111634000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr3:111630600-111634800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr3:111630600-111634800	Weak transcription	Small Intestine	intestine
49	chr3:111630600-111635600	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr3:111630600-111637000	Weak transcription	Fetal Lung	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links