Variant report

Variant	rs74082100
Chromosome Location	chr12:46657579-46657580
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:46624985..46628794-chr12:46656283..46658720,3	MCF-7	breast:
2	chr12:46656458..46664971-chr12:46763618..46767965,19	MCF-7	breast:
3	chr12:46657106..46659743-chr12:47006995..47009851,2	MCF-7	breast:
4	chr12:46652597..46666608-chr12:46757245..46767985,36	MCF-7	breast:
5	chr12:46381653..46385520-chr12:46657331..46660330,4	K562	blood:
6	chr12:46655426..46657987-chr12:46776205..46778019,2	MCF-7	breast:
7	chr12:46614875..46617379-chr12:46657334..46659175,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000134294	Chromatin interaction
ENSG00000139218	Chromatin interaction
ENSG00000257261	Chromatin interaction
ENSG00000258096	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs56818305	0.85[AFR][1000 genomes]
rs58015896	0.85[AFR][1000 genomes]
rs59268437	0.90[AFR][1000 genomes]
rs7311320	1.00[AFR][1000 genomes]
rs74081917	0.95[AFR][1000 genomes]
rs74081935	0.85[AFR][1000 genomes]
rs74081980	0.85[AFR][1000 genomes]
rs74081983	0.85[AFR][1000 genomes]
rs74081996	0.90[AFR][1000 genomes]
rs74082091	1.00[AFR][1000 genomes]
rs74084027	1.00[AFR][1000 genomes]
rs74084032	0.90[AFR][1000 genomes]
rs7965500	1.00[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832398	chr12:46611692-46825530	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	181 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46597600-46659600	Weak transcription	Colonic Mucosa	Colon
2	chr12:46635600-46660000	Weak transcription	Fetal Muscle Trunk	muscle
3	chr12:46640400-46660600	Weak transcription	Aorta	Aorta
4	chr12:46645200-46659600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr12:46648400-46658400	Weak transcription	HUVEC	blood vessel
6	chr12:46649200-46657800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr12:46649400-46659600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr12:46650400-46659400	Genic enhancers	Primary B cells from peripheral blood	blood
9	chr12:46650800-46657800	Enhancers	Placenta Amnion	Placenta Amnion
10	chr12:46651600-46659600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr12:46652000-46658000	Weak transcription	Primary hematopoietic stem cells	blood
12	chr12:46652000-46659600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr12:46652200-46659400	Enhancers	HepG2	liver
14	chr12:46653400-46657800	Genic enhancers	NHEK	skin
15	chr12:46653400-46659600	Enhancers	Rectal Smooth Muscle	rectum
16	chr12:46653600-46658200	Enhancers	Colon Smooth Muscle	Colon
17	chr12:46653600-46658600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr12:46653600-46659200	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr12:46654000-46659600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr12:46654200-46658000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
21	chr12:46654600-46658600	Genic enhancers	K562	blood
22	chr12:46654600-46659000	Genic enhancers	Primary B cells from cord blood	blood
23	chr12:46654600-46661000	Weak transcription	Spleen	Spleen
24	chr12:46654800-46658800	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr12:46654800-46659600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:46654800-46659600	Weak transcription	Brain Angular Gyrus	brain
27	chr12:46655000-46659600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr12:46655200-46658000	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
29	chr12:46655400-46657600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr12:46655600-46659600	Weak transcription	Fetal Intestine Large	intestine
31	chr12:46655800-46657800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr12:46655800-46657800	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr12:46655800-46657800	Weak transcription	NH-A	brain
34	chr12:46655800-46659000	Weak transcription	Duodenum Mucosa	Duodenum
35	chr12:46655800-46659000	Weak transcription	Fetal Thymus	thymus
36	chr12:46655800-46659000	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr12:46656000-46657800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr12:46656000-46658800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr12:46656000-46658800	Weak transcription	Fetal Kidney	kidney
40	chr12:46656000-46659000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr12:46656000-46659000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr12:46656000-46659000	Weak transcription	Left Ventricle	heart
43	chr12:46656000-46659000	Weak transcription	Pancreas	Pancrea
44	chr12:46656000-46659000	Weak transcription	Right Atrium	heart
45	chr12:46656000-46659600	Weak transcription	Esophagus	oesophagus
46	chr12:46656000-46659800	Weak transcription	Fetal Stomach	stomach
47	chr12:46656000-46660400	Weak transcription	NHLF	lung
48	chr12:46656000-46660600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr12:46656000-46660600	Weak transcription	Lung	lung
50	chr12:46656200-46659000	Enhancers	A549	lung

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