Variant report

Variant	rs17119421
Chromosome Location	chr12:57479416-57479417
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:57479357-57482603	SK-N-MC	brain:	n/a	n/a
2	POLR2A	chr12:57479265-57479631	MCF10A-Er-Src	breast:	n/a	n/a
3	NFATC1	chr12:57479389-57481544	GM12878	blood:	n/a	n/a
4	POLR2A	chr12:57479325-57484106	IMR90	lung:	n/a	n/a
5	POLR2A	chr12:57479320-57482667	H1-hESC	embryonic stem cell:	n/a	n/a
6	MXI1	chr12:57479362-57484173	SK-N-SH	brain:	n/a	chr12:57481172-57481181
7	CHD1	chr12:57479398-57484094	IMR90	lung:	n/a	chr12:57481233-57481243 chr12:57480309-57480319 chr12:57480976-57480986
8	POLR2A	chr12:57479246-57480345	PFSK-1	brain:	n/a	n/a

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:57142485..57145559-chr12:57478493..57481424,3	MCF-7	breast:
2	chr12:57478321..57481410-chr12:57519789..57521729,3	MCF-7	breast:
3	chr12:57455861..57457595-chr12:57478696..57480298,2	MCF-7	breast:
4	chr12:57349108..57350665-chr12:57479276..57481586,2	MCF-7	breast:
5	chr12:57451485..57454907-chr12:57478514..57481800,3	MCF-7	breast:
6	chr12:57478864..57481857-chr15:89876636..89879186,2	MCF-7	breast:
7	chr12:57478737..57483929-chr12:57633097..57638164,8	MCF-7	breast:
8	chr12:57116631..57120456-chr12:57479265..57482503,6	MCF-7	breast:
9	chr12:57033589..57036096-chr12:57478215..57479936,2	MCF-7	breast:
10	chr12:57380979..57383508-chr12:57478377..57480452,2	MCF-7	breast:
11	chr12:57436724..57439244-chr12:57478812..57480694,2	MCF-7	breast:
12	chr12:57476897..57479666-chr12:57576067..57577675,2	MCF-7	breast:
13	chr12:57026457..57031197-chr12:57479410..57483153,5	MCF-7	breast:
14	chr12:57479372..57481136-chr12:57587239..57589264,2	MCF-7	breast:

No data

Variant related genes	Relation type
NAB2	TF binding region
ENSG00000196531	Chromatin interaction
ENSG00000221365	Chromatin interaction
ENSG00000261441	Chromatin interaction
ENSG00000076108	Chromatin interaction
ENSG00000140521	Chromatin interaction
ENSG00000185633	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs57244425	1.00[ASN][1000 genomes]
rs59999487	1.00[ASN][1000 genomes]
rs60301769	1.00[ASN][1000 genomes]
rs60957079	1.00[ASN][1000 genomes]
rs67745435	1.00[ASN][1000 genomes]
rs73332659	1.00[ASN][1000 genomes]
rs73332662	1.00[ASN][1000 genomes]
rs73332664	1.00[ASN][1000 genomes]
rs73332676	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040850	chr12:57055011-57679209	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
2	nsv428590	chr12:57329214-57527358	Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
3	nsv832428	chr12:57340609-57535694	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57472600-57479600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:57472600-57479600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr12:57472600-57479600	Weak transcription	Gastric	stomach
4	chr12:57472600-57480000	Weak transcription	Aorta	Aorta
5	chr12:57473200-57480000	Weak transcription	Right Atrium	heart
6	chr12:57473600-57479600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr12:57473600-57479600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr12:57473800-57479600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:57473800-57479600	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr12:57473800-57479600	Weak transcription	Osteobl	bone
11	chr12:57473800-57479800	Weak transcription	Primary B cells from cord blood	blood
12	chr12:57473800-57479800	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr12:57473800-57479800	Weak transcription	HepG2	liver
14	chr12:57475000-57479600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr12:57478200-57479600	Weak transcription	Fetal Brain Female	brain
16	chr12:57478200-57480200	Enhancers	Placenta	Placenta
17	chr12:57478600-57479800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr12:57478600-57480200	Enhancers	Placenta Amnion	Placenta Amnion
19	chr12:57478800-57479600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr12:57478800-57479800	Enhancers	Fetal Lung	lung
21	chr12:57478800-57480000	Enhancers	Fetal Intestine Large	intestine
22	chr12:57479000-57479600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr12:57479000-57479600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr12:57479000-57479600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr12:57479000-57479600	Enhancers	K562	blood
26	chr12:57479000-57479800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr12:57479000-57479800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr12:57479000-57479800	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr12:57479000-57479800	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr12:57479000-57479800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr12:57479000-57479800	Enhancers	Fetal Intestine Small	intestine
32	chr12:57479000-57479800	Enhancers	Fetal Kidney	kidney
33	chr12:57479000-57479800	Enhancers	Fetal Thymus	thymus
34	chr12:57479000-57479800	Enhancers	NHDF-Ad	bronchial
35	chr12:57479000-57480000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr12:57479000-57480000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr12:57479000-57480000	Enhancers	Fetal Muscle Leg	muscle
38	chr12:57479000-57480000	Enhancers	Fetal Stomach	stomach
39	chr12:57479000-57480200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr12:57479000-57480400	Enhancers	Esophagus	oesophagus
41	chr12:57479200-57479600	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr12:57479200-57479600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr12:57479200-57479600	Weak transcription	Fetal Muscle Trunk	muscle
44	chr12:57479200-57479600	Enhancers	HMEC	breast
45	chr12:57479200-57479800	Enhancers	Muscle Satellite Cultured Cells	--
46	chr12:57479200-57479800	Enhancers	Adipose Nuclei	Adipose
47	chr12:57479200-57479800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr12:57479200-57480000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
49	chr12:57479200-57480000	Enhancers	Colon Smooth Muscle	Colon
50	chr12:57479200-57480000	Enhancers	NHLF	lung

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