Variant report

Variant	rs74082085
Chromosome Location	chr12:46651625-46651626
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:46650879..46653874-chr12:46653922..46655897,3	K562	blood:
2	chr12:46651484..46654186-chr12:46776577..46779431,3	MCF-7	breast:
3	chr12:46650913..46653725-chr12:46822184..46824848,2	MCF-7	breast:
4	chr12:46642422..46645010-chr12:46649557..46651761,2	K562	blood:
5	chr12:46624577..46626777-chr12:46651581..46654334,2	MCF-7	breast:
6	chr12:46607546..46609190-chr12:46649990..46652832,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257261	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10506267	0.91[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10506268	0.91[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11830769	0.82[AMR][1000 genomes]
rs11831535	1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2125646	0.82[AMR][1000 genomes]
rs3843676	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58470507	0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs59702903	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60628240	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs61517444	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs74084031	1.00[AMR][1000 genomes];0.83[ASN][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:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46592800-46654200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:46597600-46659600	Weak transcription	Colonic Mucosa	Colon
3	chr12:46615800-46653800	Weak transcription	NH-A	brain
4	chr12:46616400-46653600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr12:46617000-46653000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr12:46618400-46653800	Weak transcription	HSMMtube	muscle
7	chr12:46633600-46653800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr12:46635200-46653600	Weak transcription	Duodenum Mucosa	Duodenum
9	chr12:46635600-46654000	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr12:46635600-46660000	Weak transcription	Fetal Muscle Trunk	muscle
11	chr12:46635800-46653800	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr12:46640400-46653600	Weak transcription	Psoas Muscle	Psoas
13	chr12:46640400-46660600	Weak transcription	Aorta	Aorta
14	chr12:46645000-46652000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr12:46645200-46659600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr12:46646200-46653200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr12:46646200-46653800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr12:46646600-46652200	Genic enhancers	Primary T helper cells PMA-I stimulated	--
19	chr12:46648000-46653400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr12:46648400-46654000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr12:46648400-46655200	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr12:46648400-46658400	Weak transcription	HUVEC	blood vessel
23	chr12:46648600-46652200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr12:46648600-46652200	Weak transcription	HepG2	liver
25	chr12:46648600-46652600	Weak transcription	Fetal Intestine Large	intestine
26	chr12:46648600-46653600	Weak transcription	HSMM	muscle
27	chr12:46648600-46654400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr12:46648600-46657400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr12:46648800-46653400	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr12:46648800-46656600	Weak transcription	Fetal Brain Female	brain
31	chr12:46649200-46657800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr12:46649400-46659600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr12:46649600-46652200	Enhancers	Left Ventricle	heart
34	chr12:46649600-46653200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr12:46649600-46654200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr12:46649600-46654200	Enhancers	Placenta	Placenta
37	chr12:46649800-46653400	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr12:46649800-46655600	Weak transcription	Pancreas	Pancrea
39	chr12:46650200-46651800	Strong transcription	Fetal Intestine Small	intestine
40	chr12:46650200-46651800	Genic enhancers	Hela-S3	cervix
41	chr12:46650200-46652200	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr12:46650200-46654000	Enhancers	Stomach Smooth Muscle	stomach
43	chr12:46650200-46655800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
44	chr12:46650400-46651800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr12:46650400-46651800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr12:46650400-46652200	Strong transcription	HUES6 Cell Line	embryonic stem cell
47	chr12:46650400-46653400	Weak transcription	Small Intestine	intestine
48	chr12:46650400-46659400	Genic enhancers	Primary B cells from peripheral blood	blood
49	chr12:46650600-46651800	Strong transcription	ES-I3 Cell Line	embryonic stem cell
50	chr12:46650600-46651800	Enhancers	H9 Cell Line	embryonic stem cell

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