Variant report

Variant	rs11830285
Chromosome Location	chr12:104278968-104278969
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	RAD21	chr12:104277613-104278976	SK-N-SH	brain:	n/a	n/a
2	YY1	chr12:104278787-104279128	GM12892	blood:	n/a	chr12:104278965-104278977
3	YY1	chr12:104278741-104279054	GM12891	blood:	n/a	chr12:104278965-104278977
4	CTCF	chr12:104278940-104279090	GM12869	blood:	n/a	n/a
5	YY1	chr12:104278806-104279097	GM12878	blood:	n/a	chr12:104278965-104278977
6	YY1	chr12:104278803-104279096	K562	blood:	n/a	chr12:104278965-104278977
7	MXI1	chr12:104277868-104279101	SK-N-SH	brain:	n/a	n/a
8	YY1	chr12:104278814-104279082	H1-hESC	embryonic stem cell:	n/a	chr12:104278965-104278977

No.	Distal block	Cell Line	Cell type
1	chr12:104276117..104279238-chr12:104322705..104326968,4	K562	blood:
2	chr12:104277824..104279928-chr12:104282058..104285020,2	K562	blood:
3	chr12:104277028..104280742-chr12:104283520..104285730,3	K562	blood:
4	chr12:104262529..104265193-chr12:104278298..104280290,2	K562	blood:
5	chr12:104276555..104279337-chr12:104325468..104328815,4	K562	blood:

Variant related genes	Relation type
ENSG00000214198	TF binding region
ENSG00000265072	Chromatin interaction
ENSG00000214198	Chromatin interaction
ENSG00000166598	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10745982	0.89[YRI][hapmap]
rs10745983	1.00[YRI][hapmap]
rs10778293	1.00[YRI][hapmap]
rs10861128	1.00[YRI][hapmap]
rs10861129	1.00[YRI][hapmap]
rs10861144	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs10861145	0.81[ASN][1000 genomes]
rs11111811	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11111812	1.00[CEU][hapmap];0.90[JPT][hapmap];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11111814	0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11111819	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11111820	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11111825	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11111829	1.00[ASN][1000 genomes]
rs11111833	0.83[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs11111835	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs11111837	0.82[ASN][1000 genomes]
rs11111838	0.82[ASN][1000 genomes]
rs11111839	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs11111842	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs11111843	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs11111844	0.81[ASN][1000 genomes]
rs11111846	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs11111849	0.83[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs11111850	0.82[ASN][1000 genomes]
rs1165596	0.88[YRI][hapmap]
rs1165597	0.89[YRI][hapmap]
rs1165598	0.89[YRI][hapmap]
rs11831836	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs11833702	0.81[ASN][1000 genomes]
rs1185985	0.88[YRI][hapmap]
rs12228360	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12312978	1.00[YRI][hapmap]
rs1595338	0.88[YRI][hapmap]
rs1595339	0.88[YRI][hapmap]
rs17034916	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs17034931	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.81[ASN][1000 genomes]
rs2196614	0.89[YRI][hapmap]
rs2248382	0.88[YRI][hapmap]
rs2374353	1.00[YRI][hapmap]
rs2576957	0.89[YRI][hapmap]
rs2576961	0.88[YRI][hapmap]
rs2576962	0.89[YRI][hapmap]
rs2576963	0.89[YRI][hapmap]
rs2576964	0.88[YRI][hapmap]
rs2576970	0.88[YRI][hapmap]
rs2576974	0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2583241	0.89[YRI][hapmap]
rs2583242	0.88[YRI][hapmap]
rs2583245	0.88[YRI][hapmap]
rs2583246	0.88[YRI][hapmap]
rs2583247	0.89[YRI][hapmap]
rs2583248	1.00[YRI][hapmap]
rs3751206	1.00[CEU][hapmap]
rs3794246	0.83[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs4135036	1.00[CEU][hapmap]
rs4590949	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs57083451	0.81[ASN][1000 genomes]
rs58929830	0.81[ASN][1000 genomes]
rs58943141	0.81[ASN][1000 genomes]
rs728165	0.88[YRI][hapmap]
rs7295489	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs7301247	0.88[AFR][1000 genomes]
rs7302790	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7315947	0.88[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73175819	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs73175822	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73177915	0.81[ASN][1000 genomes]
rs73177916	0.83[AFR][1000 genomes]
rs73177918	0.83[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs73177919	0.83[AFR][1000 genomes];0.81[ASN][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	esv34031	chr12:104114277-104298546	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
2	nsv560039	chr12:104177668-104455340	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv977145	chr12:104273790-104283207	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104275000-104281600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr12:104278200-104279200	Enhancers	Thymus	Thymus
3	chr12:104278200-104285800	Enhancers	Fetal Thymus	thymus
4	chr12:104278800-104280200	Weak transcription	GM12878-XiMat	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links