Variant report

Variant	rs139462329
Chromosome Location	chr12:50973791-50973792
allele	A/C
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	chr12:50924992..50927845-chr12:50972241..50975233,2	MCF-7	breast:
2	chr12:50972721..50975005-chr12:51156216..51157779,2	MCF-7	breast:
3	chr12:50897706..50899944-chr12:50973208..50975379,4	MCF-7	breast:
4	chr12:50972299..50974620-chr12:51011997..51014458,2	MCF-7	breast:
5	chr12:50973790..50975589-chr12:50979477..50982440,2	MCF-7	breast:
6	chr12:50965666..50967563-chr12:50973040..50975436,2	K562	blood:
7	chr12:50963922..50966119-chr12:50973720..50976501,2	MCF-7	breast:
8	chr12:50970224..50973931-chr12:50975252..50979734,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000123268	Chromatin interaction
ENSG00000066084	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1820967	chr12:50856613-51002088	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	esv3480918	chr12:50971785-50977483	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv558842	chr12:50972136-50975386	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	esv3480874	chr12:50972710-50976058	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv3480863	chr12:50973380-50975743	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	esv9262	chr12:50973532-50975705	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv3480907	chr12:50973585-50975602	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	esv3480896	chr12:50973615-50975574	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	esv3480885	chr12:50973636-50975577	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	esv19805	chr12:50973674-50975546	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	esv3400	chr12:50973677-50975614	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	nsv826369	chr12:50973680-50975368	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	nsv826370	chr12:50973680-50975500	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
14	esv3480929	chr12:50973717-50975517	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
15	nsv826371	chr12:50973782-50975500	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50959000-50976800	Weak transcription	Primary T cells from cord blood	blood
2	chr12:50962400-50983200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr12:50966800-50975600	Weak transcription	HSMM	muscle
4	chr12:50967200-50978400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr12:50967200-50983000	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr12:50967400-50991200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr12:50967400-50991200	Weak transcription	Aorta	Aorta
8	chr12:50968400-50976400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr12:50968600-50983000	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr12:50968800-50974600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr12:50968800-50974800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr12:50968800-50982200	Weak transcription	Fetal Brain Female	brain
13	chr12:50968800-50989000	Weak transcription	Fetal Intestine Small	intestine
14	chr12:50968800-50997400	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr12:50969000-50983200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr12:50969000-50983400	Weak transcription	Rectal Smooth Muscle	rectum
17	chr12:50969200-50973800	Weak transcription	Brain Germinal Matrix	brain
18	chr12:50969200-50974400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr12:50969400-50974400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr12:50969400-50974600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:50969400-50974800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr12:50969400-50975400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr12:50969400-50975400	Weak transcription	HMEC	breast
24	chr12:50969400-50983400	Weak transcription	NHLF	lung
25	chr12:50969600-50974600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr12:50969600-50974600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr12:50969600-50974600	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr12:50969600-50974800	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr12:50969600-50975000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr12:50969600-50975200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr12:50969600-50975400	Weak transcription	Lung	lung
32	chr12:50969600-50976800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr12:50969600-50978200	Weak transcription	Fetal Kidney	kidney
34	chr12:50969600-50978400	Weak transcription	Fetal Stomach	stomach
35	chr12:50969600-50981000	Weak transcription	Fetal Intestine Large	intestine
36	chr12:50969600-50983400	Weak transcription	HSMMtube	muscle
37	chr12:50969600-50983600	Weak transcription	Adipose Nuclei	Adipose
38	chr12:50969600-50997400	Weak transcription	Stomach Smooth Muscle	stomach
39	chr12:50969800-50974800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr12:50969800-50975200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr12:50969800-50975600	Weak transcription	Fetal Muscle Leg	muscle
42	chr12:50969800-50982000	Weak transcription	Fetal Muscle Trunk	muscle
43	chr12:50969800-50989600	Weak transcription	Colon Smooth Muscle	Colon
44	chr12:50972400-50973800	Enhancers	Fetal Lung	lung
45	chr12:50972600-50973800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr12:50972600-50973800	Enhancers	Fetal Brain Male	brain
47	chr12:50972600-50974000	Enhancers	Fetal Heart	heart
48	chr12:50972600-50975600	Enhancers	Brain Angular Gyrus	brain
49	chr12:50972600-50976000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
50	chr12:50972600-50978200	Enhancers	Brain Substantia Nigra	brain

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