Variant report

Variant	rs7957401
Chromosome Location	chr12:42633303-42633304
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr12:42630820-42633569	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr12:42631079-42633464	GM12891	blood:	n/a	n/a
3	HCFC1	chr12:42630358-42633508	Hela-S3	cervix:	n/a	n/a
4	TCF7L2	chr12:42633242-42633431	PANC-1	pancreas:	n/a	n/a
5	CEBPB	chr12:42633291-42633563	K562	blood:	n/a	chr12:42633440-42633451
6	CEBPB	chr12:42633269-42633547	IMR90	lung:	n/a	chr12:42633440-42633451

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:42629683..42634871-chr12:42717173..42721669,10	K562	blood:
2	chr12:42629596..42634057-chr12:42635851..42641617,6	MCF-7	breast:
3	chr12:42536858..42540358-chr12:42630016..42633914,10	MCF-7	breast:
4	chr12:42535865..42541158-chr12:42630084..42634162,10	K562	blood:
5	chr12:42631475..42633841-chr12:42740722..42742775,2	K562	blood:
6	chr12:42536195..42540644-chr12:42629191..42634148,6	K562	blood:
7	chr12:42631625..42634573-chr12:42719114..42721447,2	K562	blood:

No data

Variant related genes	Relation type
YAF2	TF binding region
RN7SL10P	TF binding region
ENSG00000139168	Chromatin interaction
ENSG00000151233	Chromatin interaction
ENSG00000241710	Chromatin interaction
ENSG00000134283	Chromatin interaction
ENSG00000252917	Chromatin interaction

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs11385212	1.00[AMR][1000 genomes]
rs1234113	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1683193	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2639125	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs2639128	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56669009	1.00[AMR][1000 genomes]
rs56945323	1.00[AMR][1000 genomes]
rs57166587	0.83[AMR][1000 genomes]
rs57260154	0.83[AMR][1000 genomes]
rs57549495	1.00[AMR][1000 genomes]
rs57582332	1.00[AMR][1000 genomes]
rs58108857	0.85[AMR][1000 genomes]
rs58488818	0.83[AMR][1000 genomes]
rs58902406	0.83[AMR][1000 genomes]
rs59321446	0.83[AMR][1000 genomes]
rs60327465	1.00[AMR][1000 genomes]
rs712113	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs712117	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs712121	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs712128	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7132315	1.00[AMR][1000 genomes]
rs7136339	0.83[AMR][1000 genomes]
rs7298660	1.00[AMR][1000 genomes]
rs7303532	0.83[AMR][1000 genomes]
rs73272006	0.83[AMR][1000 genomes]
rs73272039	0.83[AMR][1000 genomes]
rs73272041	0.83[AMR][1000 genomes]
rs73272052	0.83[AMR][1000 genomes]
rs73272054	0.83[AMR][1000 genomes]
rs73272065	0.83[AMR][1000 genomes]
rs73273905	0.83[AMR][1000 genomes]
rs73273908	0.83[AMR][1000 genomes]
rs73273915	0.83[AMR][1000 genomes]
rs73280025	1.00[AMR][1000 genomes]
rs73280038	0.85[AMR][1000 genomes]
rs73280040	1.00[AMR][1000 genomes]
rs73280047	1.00[AMR][1000 genomes]
rs73280057	0.85[AMR][1000 genomes]
rs73280063	1.00[AMR][1000 genomes]
rs73280071	1.00[AMR][1000 genomes]
rs73280079	1.00[AMR][1000 genomes]
rs73280085	1.00[AMR][1000 genomes]
rs73280087	1.00[AMR][1000 genomes]
rs73280101	1.00[AMR][1000 genomes]
rs73281848	1.00[AMR][1000 genomes]
rs73281857	1.00[AMR][1000 genomes]
rs73281868	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281890	1.00[AMR][1000 genomes]
rs73281897	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73283703	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73283726	1.00[AMR][1000 genomes]
rs73283728	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73283731	1.00[AMR][1000 genomes]
rs73283737	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73283752	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73283757	1.00[AMR][1000 genomes]
rs73283764	1.00[AMR][1000 genomes]
rs73283782	0.83[AMR][1000 genomes]
rs73285606	0.83[AMR][1000 genomes]
rs73285607	0.83[AMR][1000 genomes]
rs73285610	0.83[AMR][1000 genomes]
rs73285625	0.83[AMR][1000 genomes]
rs73285647	0.83[AMR][1000 genomes]
rs73285664	0.83[AMR][1000 genomes]
rs73285666	0.83[AMR][1000 genomes]
rs73285678	0.83[AMR][1000 genomes]
rs7960285	1.00[AMR][1000 genomes]
rs7964994	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs850828	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs864291	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs864298	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9669751	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430505	chr12:42297931-42720773	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv826351	chr12:42584218-42676281	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats 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	19 gene(s)	inside rSNPs	diseases
3	nsv826352	chr12:42593124-42675255	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	esv3324521	chr12:42630510-42633558	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42631200-42633400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr12:42632400-42633400	Flanking Active TSS	Dnd41	blood
3	chr12:42632600-42633400	Flanking Active TSS	A549	lung
4	chr12:42632600-42633400	Flanking Active TSS	Hela-S3	cervix
5	chr12:42632600-42633400	Flanking Active TSS	K562	blood
6	chr12:42632600-42635200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:42632800-42633400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:42632800-42633400	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr12:42632800-42633400	Enhancers	Colon Smooth Muscle	Colon
10	chr12:42632800-42633400	Enhancers	Fetal Lung	lung
11	chr12:42633000-42633400	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr12:42633000-42633400	Enhancers	Fetal Heart	heart
13	chr12:42633000-42633400	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr12:42633000-42633600	Enhancers	Fetal Brain Male	brain
15	chr12:42633000-42634800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr12:42633200-42633400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr12:42633200-42633400	Enhancers	Muscle Satellite Cultured Cells	--
18	chr12:42633200-42633400	Active TSS	Brain Germinal Matrix	brain
19	chr12:42633200-42633400	Enhancers	Brain Hippocampus Middle	brain
20	chr12:42633200-42633400	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr12:42633200-42633400	Active TSS	Fetal Kidney	kidney
22	chr12:42633200-42633400	Active TSS	GM12878-XiMat	blood
23	chr12:42633200-42633400	Enhancers	Osteobl	bone
24	chr12:42633200-42633600	Enhancers	HepG2	liver
25	chr12:42633200-42635000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell

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