Variant report

Variant	rs1196468
Chromosome Location	chr1:151631421-151631422
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:151628251..151631523-chr1:151631798..151635161,3	MCF-7	breast:
2	1:151402394-151411623..1:151618750-151636526	GM12878	blood:
3	chr1:151512144..151513669-chr1:151629955..151632572,2	MCF-7	breast:
4	chr1:151515446..151517713-chr1:151630494..151632395,2	MCF-7	breast:
5	1:151171193-151178589..1:151618750-151636526	Hela-S3	cervix:
6	1:151592347-151603110..1:151618750-151636526	Hela-S3	cervix:
7	chr1:151629068..151630883-chr1:151630924..151632561,2	MCF-7	breast:
8	chr1:151630604..151632996-chr1:151635401..151638302,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000206635	Chromatin interaction
ENSG00000143376	Chromatin interaction
ENSG00000232536	Chromatin interaction
ENSG00000143367	Chromatin interaction
ENSG00000238711	Chromatin interaction
ENSG00000143398	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11808761	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1196350	0.87[ASN][1000 genomes]
rs1196462	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1196466	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12122920	0.85[ASN][1000 genomes]
rs12128050	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12723676	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35086333	0.87[ASN][1000 genomes]
rs41263702	0.87[EUR][1000 genomes]
rs61818467	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs939592	0.81[EUR][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	nsv2843	chr1:151600069-151644709	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151587600-151640600	Weak transcription	Fetal Brain Male	brain
2	chr1:151588200-151665200	Weak transcription	Aorta	Aorta
3	chr1:151591200-151675400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr1:151592600-151633800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr1:151594000-151652800	Weak transcription	Right Ventricle	heart
6	chr1:151603000-151663200	Weak transcription	Colonic Mucosa	Colon
7	chr1:151610200-151633800	Weak transcription	HUVEC	blood vessel
8	chr1:151610600-151652200	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr1:151610600-151665000	Weak transcription	Lung	lung
10	chr1:151611600-151633000	Weak transcription	Brain Hippocampus Middle	brain
11	chr1:151611600-151634200	Weak transcription	Psoas Muscle	Psoas
12	chr1:151611600-151637600	Weak transcription	Fetal Heart	heart
13	chr1:151611600-151639800	Weak transcription	K562	blood
14	chr1:151611600-151640600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr1:151611600-151643800	Weak transcription	Pancreas	Pancrea
16	chr1:151611600-151668200	Weak transcription	Gastric	stomach
17	chr1:151612400-151634600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr1:151612800-151633800	Weak transcription	HSMM	muscle
19	chr1:151612800-151652400	Weak transcription	HMEC	breast
20	chr1:151618000-151642600	Weak transcription	Brain Cingulate Gyrus	brain
21	chr1:151618000-151667600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:151620800-151631800	Weak transcription	Left Ventricle	heart
23	chr1:151621400-151632000	Weak transcription	Fetal Lung	lung
24	chr1:151622800-151643600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr1:151623000-151641600	Weak transcription	Ovary	ovary
26	chr1:151624000-151632000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr1:151625000-151636600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr1:151625600-151644800	Strong transcription	Dnd41	blood
29	chr1:151626000-151632000	Weak transcription	NHDF-Ad	bronchial
30	chr1:151626200-151636400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr1:151626800-151665400	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr1:151627000-151631600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr1:151627000-151634200	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr1:151627200-151638200	Weak transcription	GM12878-XiMat	blood
35	chr1:151627200-151655600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr1:151627200-151659800	Weak transcription	Spleen	Spleen
37	chr1:151627200-151670600	Weak transcription	Small Intestine	intestine
38	chr1:151627400-151633000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr1:151627400-151638800	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr1:151627400-151676000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr1:151627600-151634600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr1:151627800-151634200	Weak transcription	Fetal Brain Female	brain
43	chr1:151628000-151646000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr1:151628200-151633200	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr1:151628200-151633600	Weak transcription	Primary T cells from cord blood	blood
46	chr1:151628200-151652800	Weak transcription	Rectal Smooth Muscle	rectum
47	chr1:151628200-151669800	Weak transcription	Esophagus	oesophagus
48	chr1:151629000-151633800	Strong transcription	Fetal Intestine Large	intestine
49	chr1:151629000-151636600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr1:151629200-151632000	Strong transcription	Monocytes-CD14+_RO01746	blood

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