Variant report

Variant	rs11174582
Chromosome Location	chr12:63049559-63049560
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	YY1	chr12:63049509-63050087	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr12:63049471-63049664	MCF10A-Er-Src	breast:	n/a	n/a
3	CTBP2	chr12:63049450-63050035	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:63038732..63045047-chr12:63045521..63050769,8	MCF-7	breast:
2	chr12:63041505..63044112-chr12:63048353..63051271,2	K562	blood:
3	chr12:63045607..63047672-chr12:63047992..63050853,2	MCF-7	breast:
4	chr12:63033523..63036576-chr12:63048236..63051524,3	K562	blood:
5	chr12:63045714..63050618-chr12:63051733..63055030,6	MCF-7	breast:

No data

Variant related genes	Relation type
RPL32P26	TF binding region
ENSG00000238475	Chromatin interaction
ENSG00000241941	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10877902	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11174589	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11174590	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1498715	0.95[ASN][1000 genomes]
rs2123	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[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	nsv741	chr12:63038255-63064846	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:63026600-63049800	Weak transcription	Right Atrium	heart
2	chr12:63035200-63069800	Weak transcription	Left Ventricle	heart
3	chr12:63037200-63050800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr12:63037200-63069600	Weak transcription	Fetal Intestine Large	intestine
5	chr12:63039200-63070000	Weak transcription	Pancreas	Pancrea
6	chr12:63041400-63049800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr12:63041600-63049800	Weak transcription	Fetal Stomach	stomach
8	chr12:63041600-63053600	Weak transcription	Osteobl	bone
9	chr12:63042000-63049600	Weak transcription	Brain Cingulate Gyrus	brain
10	chr12:63042200-63050400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr12:63044800-63050200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
12	chr12:63045000-63053400	Weak transcription	Fetal Kidney	kidney
13	chr12:63045600-63051000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
14	chr12:63045800-63054000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr12:63046000-63049600	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
16	chr12:63046000-63054000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr12:63047000-63051800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr12:63047200-63054000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr12:63047400-63053800	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr12:63047600-63049600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
21	chr12:63047600-63051400	Strong transcription	Fetal Intestine Small	intestine
22	chr12:63047600-63054000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr12:63047600-63058000	Weak transcription	A549	lung
24	chr12:63047800-63053400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr12:63047800-63057200	Weak transcription	Lung	lung
26	chr12:63047800-63062000	Weak transcription	Stomach Mucosa	stomach
27	chr12:63047800-63069600	Weak transcription	Liver	Liver
28	chr12:63048000-63051000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr12:63048000-63054000	Enhancers	Brain Substantia Nigra	brain
30	chr12:63048200-63049800	Enhancers	Placenta	Placenta
31	chr12:63048200-63051000	Strong transcription	HepG2	liver
32	chr12:63048400-63049600	Weak transcription	Fetal Muscle Trunk	muscle
33	chr12:63048400-63050000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
34	chr12:63048400-63050200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
35	chr12:63048400-63051200	Enhancers	Fetal Muscle Leg	muscle
36	chr12:63048600-63049600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr12:63048600-63049800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
38	chr12:63048600-63049800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr12:63048600-63050800	Weak transcription	Dnd41	blood
40	chr12:63048600-63051400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr12:63048800-63049800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr12:63048800-63050200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
43	chr12:63049000-63052000	Enhancers	Brain Anterior Caudate	brain
44	chr12:63049000-63054800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr12:63049000-63069600	Weak transcription	Primary hematopoietic stem cells	blood
46	chr12:63049000-63070000	Weak transcription	Gastric	stomach
47	chr12:63049200-63049600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr12:63049200-63050600	Weak transcription	Fetal Thymus	thymus
49	chr12:63049200-63051400	Enhancers	Brain Hippocampus Middle	brain
50	chr12:63049200-63052400	Weak transcription	Aorta	Aorta

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