Variant report

Variant	rs1808315
Chromosome Location	chr2:10543004-10543005
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:10524400..10527194-chr2:10542947..10545741,3	MCF-7	breast:
2	chr2:10537407..10539660-chr2:10542991..10544767,2	MCF-7	breast:
3	chr2:10538831..10544260-chr2:10544573..10548851,6	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10189719	0.94[ASN][1000 genomes]
rs12467741	0.94[ASN][1000 genomes]
rs12472775	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs35158739	0.90[ASN][1000 genomes]
rs3755263	0.93[ASN][1000 genomes]
rs3755264	0.94[ASN][1000 genomes]
rs3771128	0.93[ASN][1000 genomes]
rs3771134	0.94[ASN][1000 genomes]
rs3771138	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs3771141	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62130186	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs62130189	0.89[ASN][1000 genomes]
rs62130190	0.93[ASN][1000 genomes]
rs876614	0.94[ASN][1000 genomes]
rs876615	0.94[ASN][1000 genomes]
rs876616	0.94[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	nsv530829	chr2:10357105-10655131	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
2	nsv873641	chr2:10480415-10544640	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv873643	chr2:10535481-10583160	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv873644	chr2:10537347-10576424	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv873645	chr2:10537347-10612091	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
6	nsv1007185	chr2:10540386-10791743	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10530600-10544400	Weak transcription	Brain Angular Gyrus	brain
2	chr2:10531000-10544600	Weak transcription	NHLF	lung
3	chr2:10531200-10544200	Weak transcription	Brain Substantia Nigra	brain
4	chr2:10533000-10551800	Weak transcription	Ovary	ovary
5	chr2:10533400-10549200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr2:10533600-10544200	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr2:10533600-10544200	Weak transcription	Fetal Brain Female	brain
8	chr2:10534000-10545400	Weak transcription	Fetal Lung	lung
9	chr2:10537000-10543400	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr2:10538200-10544400	Weak transcription	Psoas Muscle	Psoas
11	chr2:10539400-10544800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr2:10539600-10544400	Weak transcription	Fetal Kidney	kidney
13	chr2:10540200-10544800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr2:10540800-10543400	Enhancers	Colon Smooth Muscle	Colon
15	chr2:10540800-10543600	Enhancers	Fetal Intestine Large	intestine
16	chr2:10541000-10543600	Genic enhancers	Fetal Intestine Small	intestine
17	chr2:10541000-10544000	Weak transcription	NHEK	skin
18	chr2:10541000-10544200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr2:10541000-10544200	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr2:10541000-10544400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr2:10541000-10547400	Weak transcription	K562	blood
22	chr2:10541200-10544000	Weak transcription	HSMM	muscle
23	chr2:10541200-10544200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr2:10541200-10544200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr2:10541200-10550800	Enhancers	Fetal Muscle Leg	muscle
26	chr2:10541400-10543200	Enhancers	Stomach Smooth Muscle	stomach
27	chr2:10541400-10543400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr2:10541400-10544400	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr2:10541400-10545200	Weak transcription	Pancreas	Pancrea
30	chr2:10541400-10545200	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr2:10541600-10543400	Enhancers	Fetal Muscle Trunk	muscle
32	chr2:10541600-10544400	Weak transcription	Fetal Stomach	stomach
33	chr2:10541600-10545200	Enhancers	Osteobl	bone
34	chr2:10541800-10543200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr2:10541800-10543400	Enhancers	Rectal Smooth Muscle	rectum
36	chr2:10541800-10546400	Enhancers	Adipose Nuclei	Adipose
37	chr2:10541800-10546400	Weak transcription	Fetal Thymus	thymus
38	chr2:10541800-10547200	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr2:10542000-10543200	Enhancers	Monocytes-CD14+_RO01746	blood
40	chr2:10542000-10543400	Enhancers	HepG2	liver
41	chr2:10542000-10544000	Enhancers	Liver	Liver
42	chr2:10542000-10544200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr2:10542000-10544200	Weak transcription	Placenta	Placenta
44	chr2:10542000-10544200	Weak transcription	Thymus	Thymus
45	chr2:10542000-10544400	Weak transcription	Esophagus	oesophagus
46	chr2:10542000-10544600	Weak transcription	Right Atrium	heart
47	chr2:10542000-10546400	Weak transcription	Primary hematopoietic stem cells	blood
48	chr2:10542000-10546600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr2:10542000-10547000	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr2:10542000-10549400	Enhancers	HUVEC	blood vessel

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