Variant report

Variant	rs17123787
Chromosome Location	chr12:49957176-49957177
allele	G/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	chr12:49957015-49957296	GM12878	blood:	n/a	n/a
2	POLR2A	chr12:49956952-49957694	GM12892	blood:	n/a	n/a
3	POLR2A	chr12:49957145-49957220	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr12:49956641-49957833	K562	blood:	n/a	n/a
5	POLR2A	chr12:49956878-49957417	GM12878	blood:	n/a	n/a
6	POLR2A	chr12:49956557-49958991	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr12:49957090-49957804	K562	blood:	n/a	n/a
8	POLR2A	chr12:49957127-49957487	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:49930852..49937653-chr12:49953841..49959391,7	K562	blood:
2	chr12:49956036..49957788-chr12:49985929..49987842,2	MCF-7	breast:

Variant related genes	Relation type
MCRS1	TF binding region
PRPF40B	TF binding region
ENSG00000135519	Chromatin interaction
ENSG00000199237	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10128824	1.00[AMR][1000 genomes]
rs11169110	1.00[AMR][1000 genomes]
rs11169114	1.00[AMR][1000 genomes]
rs11169115	1.00[AMR][1000 genomes]
rs11169120	1.00[AMR][1000 genomes]
rs11169123	1.00[AMR][1000 genomes]
rs11609068	0.85[YRI][hapmap]
rs12297814	1.00[AMR][1000 genomes]
rs12299477	1.00[AMR][1000 genomes]
rs12299666	1.00[AMR][1000 genomes]
rs12299743	1.00[AMR][1000 genomes]
rs12299751	1.00[AMR][1000 genomes]
rs12300376	1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs12300919	1.00[EUR][1000 genomes]
rs12300962	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12306951	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12310580	1.00[AMR][1000 genomes]
rs12312112	1.00[AMR][1000 genomes]
rs12313657	1.00[AMR][1000 genomes]
rs12313681	1.00[AMR][1000 genomes]
rs12314036	1.00[AMR][1000 genomes]
rs12315508	1.00[AMR][1000 genomes]
rs12316175	1.00[EUR][1000 genomes]
rs12317162	1.00[AMR][1000 genomes]
rs12319527	1.00[AMR][1000 genomes]
rs12320895	1.00[AMR][1000 genomes]
rs1317263	0.92[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17119738	0.84[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17123724	0.83[MKK][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs17123729	1.00[EUR][1000 genomes]
rs17123778	1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs17123827	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17123879	1.00[AMR][1000 genomes]
rs17123924	1.00[AMR][1000 genomes]
rs57625108	1.00[EUR][1000 genomes]
rs58039341	1.00[EUR][1000 genomes]
rs61438877	1.00[EUR][1000 genomes]
rs73305101	1.00[EUR][1000 genomes]
rs73306844	1.00[EUR][1000 genomes]
rs73306846	1.00[EUR][1000 genomes]
rs73306864	1.00[EUR][1000 genomes]
rs73306865	1.00[EUR][1000 genomes]
rs73306875	1.00[EUR][1000 genomes]
rs73306891	1.00[EUR][1000 genomes]
rs73309004	1.00[EUR][1000 genomes]
rs73309010	1.00[EUR][1000 genomes]
rs73309013	1.00[EUR][1000 genomes]
rs73309017	1.00[EUR][1000 genomes]
rs73309026	1.00[EUR][1000 genomes]
rs9804867	1.00[AMR][1000 genomes]
rs9805090	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832406	chr12:49860693-50062136	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv482795	chr12:49897633-50068686	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49943200-49959600	Weak transcription	Right Atrium	heart
2	chr12:49946000-49960200	Weak transcription	Fetal Brain Male	brain
3	chr12:49948200-49960400	Strong transcription	Fetal Brain Female	brain
4	chr12:49948200-49960400	Strong transcription	Fetal Intestine Small	intestine
5	chr12:49949200-49960400	Strong transcription	Fetal Stomach	stomach
6	chr12:49949400-49957600	Strong transcription	Right Ventricle	heart
7	chr12:49949400-49958000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr12:49949400-49958200	Strong transcription	Primary T helper cells PMA-I stimulated	--
9	chr12:49949400-49958200	Strong transcription	Brain Anterior Caudate	brain
10	chr12:49949400-49958600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr12:49949400-49959000	Strong transcription	Placenta Amnion	Placenta Amnion
12	chr12:49949400-49959200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr12:49949400-49959200	Strong transcription	Gastric	stomach
14	chr12:49949400-49959400	Strong transcription	Brain Germinal Matrix	brain
15	chr12:49949400-49959800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr12:49949400-49959800	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr12:49949400-49960000	Strong transcription	Thymus	Thymus
18	chr12:49949400-49960200	Strong transcription	NHLF	lung
19	chr12:49949600-49958000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr12:49949600-49958000	Strong transcription	Fetal Muscle Leg	muscle
21	chr12:49949600-49958200	Strong transcription	Fetal Thymus	thymus
22	chr12:49949600-49958400	Strong transcription	Brain Cingulate Gyrus	brain
23	chr12:49949600-49959200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr12:49949600-49959600	Strong transcription	Placenta	Placenta
25	chr12:49949600-49959600	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr12:49949600-49959800	Strong transcription	Brain Hippocampus Middle	brain
27	chr12:49949600-49960000	Strong transcription	Fetal Intestine Large	intestine
28	chr12:49949600-49960400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr12:49949600-49960400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr12:49949800-49957200	Strong transcription	Esophagus	oesophagus
31	chr12:49949800-49957400	Strong transcription	Primary T cells from cord blood	blood
32	chr12:49949800-49957600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr12:49949800-49958000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr12:49949800-49958000	Strong transcription	Brain Angular Gyrus	brain
35	chr12:49949800-49958200	Strong transcription	Left Ventricle	heart
36	chr12:49949800-49958400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr12:49949800-49959000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
38	chr12:49949800-49959400	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr12:49949800-49959600	Strong transcription	Fetal Lung	lung
40	chr12:49949800-49959600	Strong transcription	Pancreas	Pancrea
41	chr12:49949800-49959600	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr12:49949800-49959600	Strong transcription	Sigmoid Colon	Sigmoid Colon
43	chr12:49949800-49959600	Strong transcription	Stomach Smooth Muscle	stomach
44	chr12:49949800-49959800	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr12:49949800-49959800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr12:49949800-49959800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr12:49949800-49959800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr12:49949800-49959800	Strong transcription	Adipose Nuclei	Adipose
49	chr12:49949800-49959800	Strong transcription	Lung	lung
50	chr12:49949800-49960000	Strong transcription	HUES64 Cell Line	embryonic stem cell

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