Variant report

Variant	rs41375646
Chromosome Location	chr2:46980105-46980106
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:46930029..46933528-chr2:46976256..46980348,3	K562	blood:
2	chr2:46970114..46972113-chr2:46977401..46980359,2	MCF-7	breast:
3	chr2:46976318..46977932-chr2:46979350..46982138,4	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10495938	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11889273	0.93[AFR][1000 genomes]
rs11892177	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11892710	0.93[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs11893159	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11893443	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11893955	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11901688	1.00[ASN][1000 genomes]
rs11903382	0.81[AFR][1000 genomes]
rs17771005	0.84[AFR][1000 genomes]
rs17771237	0.86[AFR][1000 genomes]
rs17771255	0.86[AFR][1000 genomes]
rs17771357	0.84[AFR][1000 genomes]
rs17772309	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17821941	0.91[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs17822668	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17822704	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs41320947	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41349351	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs41363351	0.87[AMR][1000 genomes]
rs41370847	0.90[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs41379147	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41432848	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41478946	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4575769	0.91[AFR][1000 genomes]
rs62134765	0.95[AFR][1000 genomes]
rs6721999	0.88[ASN][1000 genomes]
rs6731970	0.84[AFR][1000 genomes]
rs6749450	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72802460	0.89[AFR][1000 genomes]
rs7591613	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7606134	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9677272	0.89[AFR][1000 genomes]
rs9677705	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014425	chr2:46670179-47033417	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv535678	chr2:46670179-47033417	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv873996	chr2:46670941-47065227	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
5	nsv873997	chr2:46821640-46984627	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv1013079	chr2:46949337-46998417	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46945400-46985400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr2:46955200-46984800	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr2:46955200-46985400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr2:46960000-46988000	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr2:46962000-46982000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:46964800-46985800	Weak transcription	Primary B cells from cord blood	blood
7	chr2:46965600-46980800	Weak transcription	Fetal Heart	heart
8	chr2:46965800-46986800	Weak transcription	Hela-S3	cervix
9	chr2:46969400-46988200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr2:46972600-46981000	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr2:46972600-46986600	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr2:46973200-46981400	Enhancers	NHDF-Ad	bronchial
13	chr2:46973400-46985600	Weak transcription	Primary hematopoietic stem cells	blood
14	chr2:46974200-46983000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:46974600-46990000	Weak transcription	Colonic Mucosa	Colon
16	chr2:46974800-46980200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr2:46974800-46985600	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr2:46974800-46986600	Weak transcription	Gastric	stomach
19	chr2:46975000-46980400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr2:46975000-46985400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr2:46975000-46986800	Weak transcription	GM12878-XiMat	blood
22	chr2:46975600-46985400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr2:46975600-46985400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr2:46975600-46985400	Weak transcription	Fetal Muscle Trunk	muscle
25	chr2:46975600-46985400	Weak transcription	Lung	lung
26	chr2:46975600-46986000	Weak transcription	Esophagus	oesophagus
27	chr2:46975600-46986400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr2:46975800-46986800	Weak transcription	Pancreas	Pancrea
29	chr2:46976200-46984800	Weak transcription	Fetal Intestine Small	intestine
30	chr2:46976200-46990400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr2:46976400-46980400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr2:46976400-46980400	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr2:46976400-46980800	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr2:46976400-46980800	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr2:46976400-46985400	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr2:46976400-46986600	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr2:46976600-46980200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr2:46976600-46980200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr2:46976600-46980200	Weak transcription	Duodenum Mucosa	Duodenum
40	chr2:46976600-46980800	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr2:46976600-46981000	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr2:46976600-46981000	Weak transcription	HSMMtube	muscle
43	chr2:46976600-46985400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr2:46976600-46986000	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr2:46976600-46986000	Weak transcription	Liver	Liver
46	chr2:46976600-46986000	Weak transcription	Stomach Smooth Muscle	stomach
47	chr2:46976800-46980600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr2:46976800-46980800	Weak transcription	Brain Anterior Caudate	brain
49	chr2:46976800-46980800	Weak transcription	Fetal Intestine Large	intestine
50	chr2:46976800-46981000	Weak transcription	HSMM	muscle

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