Variant report

Variant	rs58621770
Chromosome Location	chr12:124462184-124462185
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:124462079-124462293	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:124461201..124463907-chr12:124466692..124470119,3	MCF-7	breast:
2	chr12:124461323..124463164-chr12:124465157..124466786,2	K562	blood:

Variant related genes	Relation type
CCDC92	TF binding region

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

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11608738	0.95[AFR][1000 genomes]
rs1873224	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55680811	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55996758	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56169314	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57531416	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57818143	0.98[AFR][1000 genomes]
rs58157153	0.95[AFR][1000 genomes]
rs60980349	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61151021	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7301547	0.90[AMR][1000 genomes]
rs73409428	0.90[AMR][1000 genomes]
rs7976904	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs939464	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs952631	1.00[AFR][1000 genomes];1.00[AMR][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	esv3493374	chr12:124458433-124496012	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	esv3493363	chr12:124458497-124495976	Strong transcription Genic enhancers Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv3493385	chr12:124458565-124495928	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124458800-124465600	Weak transcription	Psoas Muscle	Psoas
2	chr12:124458800-124466600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr12:124458800-124466600	Weak transcription	Spleen	Spleen
4	chr12:124459000-124464200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr12:124459000-124465800	Weak transcription	Left Ventricle	heart
6	chr12:124459000-124466000	Weak transcription	Right Ventricle	heart
7	chr12:124459000-124468400	Weak transcription	Ovary	ovary
8	chr12:124459000-124470800	Weak transcription	Primary B cells from peripheral blood	blood
9	chr12:124459000-124470800	Weak transcription	Stomach Smooth Muscle	stomach
10	chr12:124459000-124472200	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr12:124459000-124472600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr12:124459000-124472800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr12:124459000-124473400	Weak transcription	Esophagus	oesophagus
14	chr12:124459200-124473200	Weak transcription	Rectal Smooth Muscle	rectum
15	chr12:124459200-124473400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr12:124459200-124477000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr12:124459200-124477200	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr12:124459400-124462600	Strong transcription	Fetal Thymus	thymus
19	chr12:124459400-124464000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr12:124459400-124466400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr12:124459400-124466600	Weak transcription	Primary hematopoietic stem cells	blood
22	chr12:124459400-124466600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr12:124459400-124466800	Weak transcription	Right Atrium	heart
24	chr12:124459400-124467000	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr12:124459400-124468400	Weak transcription	Adipose Nuclei	Adipose
26	chr12:124459400-124470800	Weak transcription	Primary T cells from cord blood	blood
27	chr12:124459400-124470800	Weak transcription	HSMMtube	muscle
28	chr12:124459400-124471000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr12:124459400-124472000	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr12:124459400-124472600	Weak transcription	Thymus	Thymus
31	chr12:124459400-124474800	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr12:124459400-124474800	Weak transcription	Colonic Mucosa	Colon
33	chr12:124459600-124463400	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr12:124459600-124466400	Weak transcription	Brain Cingulate Gyrus	brain
35	chr12:124459600-124466600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr12:124459600-124468200	Weak transcription	Brain Substantia Nigra	brain
37	chr12:124459600-124468600	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr12:124459600-124470200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr12:124459600-124471800	Weak transcription	NH-A	brain
40	chr12:124459600-124472600	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr12:124459600-124473200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr12:124459600-124473400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr12:124459600-124474600	Weak transcription	Stomach Mucosa	stomach
44	chr12:124459800-124464200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr12:124459800-124464800	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr12:124459800-124471600	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr12:124459800-124473200	Weak transcription	Colon Smooth Muscle	Colon
48	chr12:124460000-124462200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr12:124460000-124462200	Strong transcription	Fetal Stomach	stomach
50	chr12:124460000-124462400	Strong transcription	NHEK	skin

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