Variant report

Variant	rs1263341
Chromosome Location	chr4:2921937-2921938
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1012365	0.82[ASN][1000 genomes]
rs1263338	0.82[ASN][1000 genomes]
rs1263339	0.81[ASN][1000 genomes]
rs1263342	0.82[ASN][1000 genomes]
rs1263343	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1263344	0.82[ASN][1000 genomes]
rs1263348	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1263359	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1263360	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13140733	0.93[ASN][1000 genomes]
rs2798287	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3775067	0.81[AFR][1000 genomes]
rs3775068	0.82[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs4690004	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4690005	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4963	0.81[ASN][1000 genomes]
rs762847	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3418626	chr4:2741174-3461492	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	esv3397632	chr4:2741239-3460583	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv461163	chr4:2906285-3234980	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
4	nsv593437	chr4:2906285-3234980	Genic enhancers Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:2893200-2932600	Strong transcription	Fetal Thymus	thymus
2	chr4:2894000-2923000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr4:2901200-2934600	Weak transcription	Hela-S3	cervix
4	chr4:2903000-2925400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr4:2907400-2935400	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr4:2909200-2922400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr4:2909400-2923400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr4:2910600-2927800	Weak transcription	Small Intestine	intestine
9	chr4:2911200-2924000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr4:2911200-2935000	Weak transcription	Psoas Muscle	Psoas
11	chr4:2912600-2934800	Weak transcription	A549	lung
12	chr4:2913000-2923800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr4:2913000-2935000	Weak transcription	K562	blood
14	chr4:2913800-2924000	Weak transcription	Stomach Mucosa	stomach
15	chr4:2914000-2925800	Weak transcription	NHDF-Ad	bronchial
16	chr4:2914200-2925200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr4:2915600-2923400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr4:2915600-2924800	Weak transcription	Brain Substantia Nigra	brain
19	chr4:2915600-2933000	Weak transcription	Right Atrium	heart
20	chr4:2916400-2923400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr4:2916400-2929800	Weak transcription	Fetal Heart	heart
22	chr4:2916800-2924200	Weak transcription	NH-A	brain
23	chr4:2916800-2924800	Weak transcription	Pancreas	Pancrea
24	chr4:2917000-2922600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr4:2917000-2924000	Weak transcription	HSMM	muscle
26	chr4:2917000-2932000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr4:2917200-2924200	Weak transcription	Primary hematopoietic stem cells	blood
28	chr4:2917200-2924800	Weak transcription	HepG2	liver
29	chr4:2917400-2924200	Weak transcription	HUVEC	blood vessel
30	chr4:2917400-2925000	Weak transcription	Primary B cells from cord blood	blood
31	chr4:2917400-2925000	Weak transcription	Colon Smooth Muscle	Colon
32	chr4:2917600-2925200	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr4:2917800-2924000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr4:2917800-2924200	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr4:2917800-2924600	Weak transcription	NHEK	skin
36	chr4:2917800-2924800	Weak transcription	Colonic Mucosa	Colon
37	chr4:2917800-2924800	Weak transcription	HMEC	breast
38	chr4:2917800-2925000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr4:2917800-2925000	Weak transcription	Gastric	stomach
40	chr4:2917800-2925000	Weak transcription	Dnd41	blood
41	chr4:2917800-2925200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr4:2917800-2925400	Weak transcription	NHLF	lung
43	chr4:2917800-2926000	Weak transcription	Aorta	Aorta
44	chr4:2918000-2924200	Weak transcription	Spleen	Spleen
45	chr4:2918000-2925200	Weak transcription	HSMMtube	muscle
46	chr4:2918400-2922200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr4:2918400-2925000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr4:2918600-2923600	Weak transcription	Fetal Intestine Large	intestine
49	chr4:2918600-2923800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr4:2918600-2923800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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