Variant report

Variant	rs41310891
Chromosome Location	chr1:151023572-151023573
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:150979769..150983967-chr1:151018069..151024059,8	MCF-7	breast:
2	chr1:151021444..151023806-chr17:57921361..57924226,2	MCF-7	breast:
3	chr1:150995615..151002939-chr1:151018225..151024612,15	MCF-7	breast:
4	chr1:150974834..150982774-chr1:151014282..151023779,19	MCF-7	breast:
5	chr1:150995720..151000061-chr1:151021068..151023867,4	K562	blood:
6	chr1:150989805..150991764-chr1:151022449..151024450,2	K562	blood:
7	chr1:150988741..150990309-chr1:151021860..151024811,2	MCF-7	breast:
8	chr1:151022097..151024795-chr1:151070842..151073434,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000143363	Chromatin interaction
ENSG00000143409	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs2272213	1.00[EUR][1000 genomes]
rs41299635	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55716130	1.00[AMR][1000 genomes]
rs55935377	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57330524	1.00[AMR][1000 genomes]
rs58618837	1.00[AMR][1000 genomes]
rs58763463	1.00[AMR][1000 genomes]
rs59737164	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60636837	1.00[AMR][1000 genomes]
rs60865304	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74125051	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74125053	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74125059	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74125062	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74125063	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74125065	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74125077	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74125079	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74125080	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74125087	1.00[AMR][1000 genomes]
rs74125088	1.00[AMR][1000 genomes]
rs74125093	1.00[AMR][1000 genomes]
rs74127505	1.00[AMR][1000 genomes]
rs74127506	1.00[AMR][1000 genomes]
rs74127513	1.00[AMR][1000 genomes]
rs74127514	1.00[AMR][1000 genomes]
rs74127515	1.00[AMR][1000 genomes]
rs74127528	1.00[AMR][1000 genomes]
rs74127529	1.00[AMR][1000 genomes]
rs74127530	1.00[AMR][1000 genomes]
rs74127531	1.00[AMR][1000 genomes]
rs74127535	1.00[AMR][1000 genomes]
rs74127536	1.00[AMR][1000 genomes]
rs74127539	1.00[AMR][1000 genomes]
rs74127540	1.00[AMR][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	nsv1001897	chr1:150743271-151241600	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv535158	chr1:150743271-151241600	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv522840	chr1:150933723-151347746	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
4	nsv916272	chr1:150961809-151557253	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151021000-151023600	Enhancers	Sigmoid Colon	Sigmoid Colon
2	chr1:151021200-151030400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:151021400-151023600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr1:151021400-151023600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr1:151021400-151023600	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr1:151021400-151023600	Weak transcription	Dnd41	blood
7	chr1:151021400-151023800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr1:151021400-151024000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:151021400-151024000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:151021400-151024000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr1:151021400-151024000	Weak transcription	Esophagus	oesophagus
12	chr1:151021400-151024000	Weak transcription	Left Ventricle	heart
13	chr1:151021400-151024000	Weak transcription	Lung	lung
14	chr1:151021400-151024000	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr1:151021400-151024000	Weak transcription	Thymus	Thymus
16	chr1:151021400-151024200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr1:151021400-151024200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr1:151021400-151024200	Weak transcription	Aorta	Aorta
19	chr1:151021400-151024400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr1:151021400-151024400	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr1:151021400-151024400	Weak transcription	Ovary	ovary
22	chr1:151021400-151024800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:151021400-151025600	Weak transcription	Small Intestine	intestine
24	chr1:151021400-151028000	Weak transcription	Psoas Muscle	Psoas
25	chr1:151021400-151029000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr1:151021400-151030000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr1:151021600-151023600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr1:151021600-151023600	Weak transcription	Duodenum Mucosa	Duodenum
29	chr1:151021600-151023600	Weak transcription	Rectal Smooth Muscle	rectum
30	chr1:151021600-151023600	Weak transcription	Stomach Mucosa	stomach
31	chr1:151021600-151023600	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr1:151021600-151023800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr1:151021600-151023800	Weak transcription	NHLF	lung
34	chr1:151021600-151024000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr1:151021600-151024000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr1:151021600-151024000	Weak transcription	Brain Hippocampus Middle	brain
37	chr1:151021600-151024000	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr1:151021600-151024000	Weak transcription	Fetal Lung	lung
39	chr1:151021600-151024000	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr1:151021600-151024200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr1:151021600-151024200	Weak transcription	Brain Angular Gyrus	brain
42	chr1:151021600-151024200	Weak transcription	Brain Anterior Caudate	brain
43	chr1:151021600-151024200	Weak transcription	Fetal Kidney	kidney
44	chr1:151021600-151024200	Weak transcription	Hela-S3	cervix
45	chr1:151021600-151024400	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr1:151021600-151024400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr1:151021600-151024400	Enhancers	HepG2	liver
48	chr1:151021600-151024600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr1:151021600-151024800	Weak transcription	HUVEC	blood vessel
50	chr1:151022000-151026800	Genic enhancers	K562	blood

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