Variant report

Variant	rs10467104
Chromosome Location	chr12:49982204-49982205
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:49981896-49982237	HepG2	liver:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:49981751..49983968-chr5:66846722..66848370,2	MCF-7	breast:
2	chr12:49978768..49982908-chr12:50014945..50017649,3	MCF-7	breast:
3	chr12:49982198..49984699-chr12:49997127..49999143,2	MCF-7	breast:
4	chr12:49973445..49975955-chr12:49981000..49982704,3	MCF-7	breast:
5	chr12:49980942..49982685-chr12:50000990..50002684,2	K562	blood:
6	chr12:49977137..49979191-chr12:49981991..49984278,2	MCF-7	breast:
7	chr12:49964375..49969334-chr12:49981796..49986330,5	MCF-7	breast:
8	chr12:49979616..49982528-chr12:49994555..49996212,2	MCF-7	breast:
9	chr12:49978538..49982226-chr12:49988172..49992676,4	K562	blood:
10	chr12:49961312..49963172-chr12:49981340..49984293,2	K562	blood:
11	chr12:49960403..49963022-chr12:49980028..49982693,4	MCF-7	breast:

No data

Variant related genes	Relation type
RNU6-834P	TF binding region
ENSG00000257243	Chromatin interaction
ENSG00000110844	Chromatin interaction
ENSG00000135436	Chromatin interaction
ENSG00000187778	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10047567	1.00[AFR][1000 genomes]
rs11168994	1.00[AFR][1000 genomes]
rs11169030	1.00[AFR][1000 genomes]
rs11169036	1.00[AFR][1000 genomes]
rs11169072	1.00[AFR][1000 genomes]
rs11169077	1.00[AFR][1000 genomes]
rs11169096	1.00[AFR][1000 genomes]
rs11169119	1.00[AFR][1000 genomes]
rs12297088	1.00[AFR][1000 genomes]
rs12299386	1.00[AFR][1000 genomes]
rs12300053	1.00[AFR][1000 genomes]
rs12301239	1.00[AFR][1000 genomes]
rs12305870	1.00[AFR][1000 genomes]
rs12309765	1.00[AFR][1000 genomes]
rs12310439	1.00[AFR][1000 genomes]
rs12313145	1.00[AFR][1000 genomes]
rs12322175	1.00[AFR][1000 genomes]
rs12322207	1.00[AFR][1000 genomes]
rs12322413	1.00[AFR][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	nsv832406	chr12:49860693-50062136	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv482795	chr12:49897633-50068686	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1045327	chr12:49975040-50551375	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
4	nsv541490	chr12:49975040-50551375	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49963000-49984800	Weak transcription	Small Intestine	intestine
2	chr12:49963000-50003200	Weak transcription	Aorta	Aorta
3	chr12:49963200-49986800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr12:49963400-49984800	Weak transcription	Primary B cells from cord blood	blood
5	chr12:49967800-49987400	Weak transcription	Hela-S3	cervix
6	chr12:49971200-49984800	Weak transcription	Primary hematopoietic stem cells	blood
7	chr12:49973800-49982400	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr12:49974400-49982400	Weak transcription	NHDF-Ad	bronchial
9	chr12:49974400-49983000	Weak transcription	Gastric	stomach
10	chr12:49974600-49982600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr12:49974800-49983400	Weak transcription	Colonic Mucosa	Colon
12	chr12:49974800-49984600	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr12:49974800-49984800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr12:49974800-49984800	Weak transcription	Fetal Thymus	thymus
15	chr12:49974800-49985200	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr12:49974800-49985800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr12:49974800-49986200	Weak transcription	K562	blood
18	chr12:49974800-49986600	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr12:49974800-49986600	Weak transcription	NH-A	brain
20	chr12:49975000-49982400	Weak transcription	HMEC	breast
21	chr12:49975000-49982800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr12:49975000-49984800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr12:49975000-49986200	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr12:49975000-49986400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr12:49975000-49987000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr12:49975400-49983200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr12:49976000-49983200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr12:49976400-49982400	Weak transcription	Psoas Muscle	Psoas
29	chr12:49976800-49984200	Weak transcription	Fetal Intestine Large	intestine
30	chr12:49976800-49994000	Weak transcription	Liver	Liver
31	chr12:49977000-49982600	Strong transcription	Fetal Intestine Small	intestine
32	chr12:49977200-49983000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr12:49977600-49982800	Weak transcription	Osteobl	bone
34	chr12:49977600-49983200	Genic enhancers	Fetal Muscle Leg	muscle
35	chr12:49977600-49996200	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr12:49977800-49982400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr12:49977800-49982400	Weak transcription	Brain Angular Gyrus	brain
38	chr12:49977800-49982400	Weak transcription	Brain Anterior Caudate	brain
39	chr12:49977800-49982400	Weak transcription	HSMM	muscle
40	chr12:49977800-49982800	Weak transcription	Esophagus	oesophagus
41	chr12:49977800-49984200	Weak transcription	Rectal Smooth Muscle	rectum
42	chr12:49978000-49982400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr12:49978000-49983000	Strong transcription	Fetal Stomach	stomach
44	chr12:49978000-49985000	Weak transcription	Dnd41	blood
45	chr12:49978000-49985400	Weak transcription	Thymus	Thymus
46	chr12:49978000-49988000	Weak transcription	Colon Smooth Muscle	Colon
47	chr12:49978200-49983400	Genic enhancers	Fetal Muscle Trunk	muscle
48	chr12:49978400-49982400	Weak transcription	Brain Cingulate Gyrus	brain
49	chr12:49978400-49983200	Enhancers	Placenta	Placenta
50	chr12:49978600-49982400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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