Variant report

Variant	rs74775761
Chromosome Location	chr12:50975525-50975526
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:50974097..50976860-chr12:51155046..51157594,2	MCF-7	breast:
2	chr12:50975357..50978309-chr12:50978600..50980737,2	K562	blood:
3	chr12:50974887..50977469-chr12:51012857..51015766,3	MCF-7	breast:
4	chr12:50961060..50963174-chr12:50973833..50976481,2	MCF-7	breast:
5	chr12:50970224..50973931-chr12:50975252..50979734,4	MCF-7	breast:
6	chr12:50926684..50928595-chr12:50975445..50977856,2	MCF-7	breast:
7	chr12:50973790..50975589-chr12:50979477..50982440,2	MCF-7	breast:
8	chr12:50919251..50921219-chr12:50974767..50977013,2	MCF-7	breast:
9	chr12:50958807..50961087-chr12:50974320..50976145,2	K562	blood:
10	chr12:50974915..50976857-chr12:50978600..50980892,2	K562	blood:
11	chr12:50973996..50977053-chr12:50977194..50979673,3	MCF-7	breast:
12	chr12:50964684..50966420-chr12:50974065..50976382,2	MCF-7	breast:
13	chr12:50973979..50976902-chr12:51009398..51011703,2	MCF-7	breast:
14	chr12:50963922..50966119-chr12:50973720..50976501,2	MCF-7	breast:
15	chr12:50975463..50977998-chr12:50988989..50993005,3	K562	blood:
16	chr12:50974754..50976788-chr12:50985941..50989901,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000123268	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:18 , 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	esv3480874	chr12:50972710-50976058	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	esv3480863	chr12:50973380-50975743	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv9262	chr12:50973532-50975705	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	esv3480907	chr12:50973585-50975602	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv3480896	chr12:50973615-50975574	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	esv3480885	chr12:50973636-50975577	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	esv19805	chr12:50973674-50975546	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	esv3400	chr12:50973677-50975614	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	nsv558849	chr12:50973897-50978255	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	nsv558850	chr12:50973897-50983771	Genic enhancers Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	esv1816169	chr12:50973897-51002088	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
14	esv1817171	chr12:50973897-51002088	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
15	esv1821299	chr12:50973897-51002088	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
16	esv1822840	chr12:50973897-51015509	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
17	nsv558855	chr12:50974470-50978255	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
18	nsv558858	chr12:50974541-50978255	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 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	chr12:50968800-50982200	Weak transcription	Fetal Brain Female	brain
11	chr12:50968800-50989000	Weak transcription	Fetal Intestine Small	intestine
12	chr12:50968800-50997400	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr12:50969000-50983200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr12:50969000-50983400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr12:50969400-50983400	Weak transcription	NHLF	lung
16	chr12:50969600-50976800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr12:50969600-50978200	Weak transcription	Fetal Kidney	kidney
18	chr12:50969600-50978400	Weak transcription	Fetal Stomach	stomach
19	chr12:50969600-50981000	Weak transcription	Fetal Intestine Large	intestine
20	chr12:50969600-50983400	Weak transcription	HSMMtube	muscle
21	chr12:50969600-50983600	Weak transcription	Adipose Nuclei	Adipose
22	chr12:50969600-50997400	Weak transcription	Stomach Smooth Muscle	stomach
23	chr12:50969800-50975600	Weak transcription	Fetal Muscle Leg	muscle
24	chr12:50969800-50982000	Weak transcription	Fetal Muscle Trunk	muscle
25	chr12:50969800-50989600	Weak transcription	Colon Smooth Muscle	Colon
26	chr12:50972600-50975600	Enhancers	Brain Angular Gyrus	brain
27	chr12:50972600-50976000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr12:50972600-50978200	Enhancers	Brain Substantia Nigra	brain
29	chr12:50972800-50978000	Enhancers	Brain Hippocampus Middle	brain
30	chr12:50973000-50976000	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr12:50973000-50976200	Enhancers	Placenta	Placenta
32	chr12:50973400-50975600	Enhancers	Liver	Liver
33	chr12:50973400-50975800	Enhancers	Ovary	ovary
34	chr12:50973400-50975800	Enhancers	HepG2	liver
35	chr12:50973400-50975800	Enhancers	K562	blood
36	chr12:50973400-50976000	Enhancers	Brain Anterior Caudate	brain
37	chr12:50973400-50983200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr12:50973600-50975600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
39	chr12:50973600-50975600	Enhancers	Stomach Mucosa	stomach
40	chr12:50973600-50975800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr12:50973600-50975800	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr12:50973600-50975800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr12:50973600-50975800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr12:50973600-50975800	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr12:50973600-50976000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr12:50973600-50976000	Enhancers	Pancreas	Pancrea
47	chr12:50973600-50976000	Enhancers	Osteobl	bone
48	chr12:50973600-50976200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr12:50973600-50976400	Enhancers	NH-A	brain
50	chr12:50973600-50976600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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