Variant report

Variant	rs10876001
Chromosome Location	chr12:50534159-50534160
allele	A/C
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	SRF	chr12:50534100-50534212	GM12878	blood:	n/a	n/a
2	POLR2A	chr12:50534157-50534181	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:50531097..50533857-chr12:50533909..50535881,2	MCF-7	breast:
2	chr12:50478764..50480688-chr12:50531935..50534642,2	MCF-7	breast:
3	chr12:50525370..50527341-chr12:50533068..50535126,2	K562	blood:
4	chr12:50529889..50532383-chr12:50532385..50534396,2	K562	blood:

Variant related genes	Relation type
CERS5	TF binding region
ENSG00000139624	Chromatin interaction
ENSG00000066117	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10735822	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10735823	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10747571	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10783334	0.81[EUR][1000 genomes]
rs10783336	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10783337	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10783339	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10783341	0.82[ASN][1000 genomes]
rs10875999	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10876002	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10876004	0.81[EUR][1000 genomes]
rs10876006	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10876007	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11169275	0.80[EUR][1000 genomes]
rs11169283	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11169284	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11169285	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12229758	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12314572	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17124448	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2008537	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2242507	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2277355	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55639096	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56151073	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7131794	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7297864	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7306213	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7314598	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7316344	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7486874	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7953174	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][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	nsv1045327	chr12:49975040-50551375	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
2	nsv541490	chr12:49975040-50551375	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
3	nsv530671	chr12:50233858-50708991	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
4	esv3392138	chr12:50394642-50645326	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 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	chr12:50507000-50537400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:50507000-50539600	Weak transcription	Stomach Mucosa	stomach
3	chr12:50511200-50538200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr12:50511400-50538600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr12:50512600-50538200	Strong transcription	Primary B cells from cord blood	blood
6	chr12:50516600-50536200	Strong transcription	Fetal Intestine Large	intestine
7	chr12:50517600-50548000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr12:50519200-50538200	Strong transcription	Fetal Muscle Leg	muscle
9	chr12:50519400-50538400	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr12:50519600-50537800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr12:50519600-50538200	Strong transcription	Fetal Muscle Trunk	muscle
12	chr12:50520200-50537800	Strong transcription	Primary T cells from cord blood	blood
13	chr12:50520200-50539000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:50520400-50538000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr12:50520600-50537400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr12:50520600-50537800	Strong transcription	HUES6 Cell Line	embryonic stem cell
17	chr12:50520600-50537800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr12:50520600-50538000	Strong transcription	Primary neutrophils fromperipheralblood	blood
19	chr12:50520600-50538200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr12:50520600-50538200	Strong transcription	Fetal Thymus	thymus
21	chr12:50520600-50538400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr12:50520600-50538600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr12:50520600-50538600	Strong transcription	Cortex derived primary cultured neurospheres	brain
24	chr12:50520800-50537800	Strong transcription	Fetal Lung	lung
25	chr12:50520800-50538200	Strong transcription	Thymus	Thymus
26	chr12:50521200-50538400	Strong transcription	HSMMtube	muscle
27	chr12:50521400-50537200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr12:50521600-50538400	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr12:50522800-50538200	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr12:50522800-50538400	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr12:50522800-50538600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr12:50523000-50537200	Strong transcription	Fetal Brain Female	brain
33	chr12:50523400-50538600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr12:50523600-50537800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr12:50523600-50537800	Strong transcription	HepG2	liver
36	chr12:50523800-50537600	Strong transcription	Primary B cells from peripheral blood	blood
37	chr12:50523800-50538400	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr12:50524000-50538600	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr12:50524000-50559800	Weak transcription	Right Atrium	heart
40	chr12:50524600-50541600	Weak transcription	Psoas Muscle	Psoas
41	chr12:50524800-50536200	Weak transcription	Small Intestine	intestine
42	chr12:50526400-50537000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
43	chr12:50527400-50535000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr12:50527400-50538200	Strong transcription	Primary T helper cells PMA-I stimulated	--
45	chr12:50528600-50537000	Weak transcription	Colonic Mucosa	Colon
46	chr12:50528600-50537200	Weak transcription	Pancreas	Pancrea
47	chr12:50528800-50538000	Weak transcription	Hela-S3	cervix
48	chr12:50528800-50543000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr12:50529200-50538200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr12:50529200-50538400	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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