Variant report

Variant	rs61953537
Chromosome Location	chr12:124004807-124004808
allele	C/T
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	chr12:123944753..123946360-chr12:124004239..124006066,2	K562	blood:
2	chr12:124004156..124006124-chr12:124006338..124008764,2	MCF-7	breast:
3	chr12:123996470..123998238-chr12:124004249..124005999,2	K562	blood:
4	chr12:123848570..123850665-chr12:124003755..124005978,2	MCF-7	breast:
5	chr12:124003058..124006753-chr12:124009013..124012498,5	MCF-7	breast:
6	chr12:123987186..123989370-chr12:124003960..124006021,2	K562	blood:
7	chr12:124002890..124005569-chr12:124009063..124010830,3	MCF-7	breast:
8	chr12:124003899..124005845-chr12:124016075..124018818,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000188026	Chromatin interaction
ENSG00000139697	Chromatin interaction
ENSG00000256092	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11522337	0.83[ASN][1000 genomes]
rs11522338	0.81[ASN][1000 genomes]
rs11522339	0.81[ASN][1000 genomes]
rs28403439	0.88[ASN][1000 genomes]
rs28465339	0.89[AMR][1000 genomes]
rs28535724	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28673982	0.88[ASN][1000 genomes]
rs28711456	0.84[ASN][1000 genomes]
rs4930716	0.84[ASN][1000 genomes]
rs59560692	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61953538	0.98[ASN][1000 genomes]
rs61953539	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61953543	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61953552	0.89[AMR][1000 genomes]
rs7313179	0.82[ASN][1000 genomes]
rs9697543	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9697721	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1038841	chr12:123757305-124087671	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv541622	chr12:123757305-124087671	Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	esv1822004	chr12:123919287-124013451	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv1037260	chr12:123956749-124023069	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
5	nsv1050598	chr12:123991646-124214332	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	nsv541623	chr12:123991646-124214332	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
7	nsv498024	chr12:123994372-124459856	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 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	chr12:123944600-124012200	Strong transcription	Fetal Stomach	stomach
2	chr12:123950800-124007600	Weak transcription	Colonic Mucosa	Colon
3	chr12:123970000-124016400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr12:123992600-124012800	Weak transcription	Thymus	Thymus
5	chr12:123993600-124011200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:123994400-124016200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr12:123994600-124016200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr12:123995200-124016400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr12:123995400-124009400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr12:123997800-124005600	Weak transcription	Fetal Brain Male	brain
11	chr12:123997800-124007600	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr12:123998000-124006800	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr12:123999200-124015800	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr12:123999400-124016400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr12:124000200-124012400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr12:124000600-124006000	Strong transcription	K562	blood
17	chr12:124000600-124009200	Strong transcription	Liver	Liver
18	chr12:124000600-124009200	Strong transcription	Fetal Brain Female	brain
19	chr12:124000600-124009200	Strong transcription	Ovary	ovary
20	chr12:124000600-124009200	Strong transcription	Spleen	Spleen
21	chr12:124000600-124009400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr12:124000600-124009400	Strong transcription	Adipose Nuclei	Adipose
23	chr12:124000600-124009600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr12:124000600-124009800	Strong transcription	Cortex derived primary cultured neurospheres	brain
25	chr12:124000600-124011400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr12:124000600-124015000	Strong transcription	Primary neutrophils fromperipheralblood	blood
27	chr12:124000800-124005600	Genic enhancers	Placenta	Placenta
28	chr12:124000800-124005800	Strong transcription	Sigmoid Colon	Sigmoid Colon
29	chr12:124000800-124009000	Strong transcription	Brain Germinal Matrix	brain
30	chr12:124001000-124007000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr12:124001000-124009000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr12:124001000-124016400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr12:124001200-124009000	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr12:124001200-124017400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr12:124001400-124017400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr12:124001600-124008200	Strong transcription	NHLF	lung
37	chr12:124001800-124005200	Strong transcription	H1 Cell Line	embryonic stem cell
38	chr12:124002000-124016800	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr12:124002200-124008000	Strong transcription	HUES64 Cell Line	embryonic stem cell
40	chr12:124002400-124007800	Strong transcription	HUES48 Cell Line	embryonic stem cell
41	chr12:124003000-124005200	Weak transcription	Hela-S3	cervix
42	chr12:124003000-124015400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr12:124003200-124005600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr12:124003400-124005600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr12:124003400-124006000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr12:124003600-124005400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr12:124003800-124005000	Genic enhancers	Brain Hippocampus Middle	brain
48	chr12:124003800-124006000	Strong transcription	Primary T cells from cord blood	blood
49	chr12:124003800-124006000	Genic enhancers	Fetal Muscle Leg	muscle
50	chr12:124003800-124007800	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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