Variant report

Variant	rs74069333
Chromosome Location	chr12:21812622-21812623
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	CTCF	chr12:21812480-21812630	AG10803	skin:	n/a	n/a
2	CTCF	chr12:21812520-21812670	HRPEpiC	eye:	n/a	n/a
3	CTCF	chr12:21812480-21812630	GM06990	blood:	n/a	n/a
4	CTCF	chr12:21812500-21812650	HFF	foreskin:	n/a	n/a
5	CTCF	chr12:21812480-21812630	HRPEpiC	eye:	n/a	n/a
6	CTCF	chr12:21812400-21812690	GM12866	blood:	n/a	n/a
7	CTCF	chr12:21812480-21812630	BE2_C	brain:	n/a	n/a
8	CTCF	chr12:21812500-21812650	HEEpiC	esophagus:	n/a	n/a
9	CTCF	chr12:21812540-21812690	NHDF-neo	bronchial:	n/a	n/a
10	CTCF	chr12:21812480-21812630	HRE	kidney:	n/a	n/a
11	CTCF	chr12:21812480-21812630	GM12878	blood:	n/a	n/a
12	CTCF	chr12:21812500-21812650	HUVEC	blood vessel:	n/a	n/a
13	CTCF	chr12:21812600-21812750	NHEK	skin:	n/a	n/a
14	CTCF	chr12:21812480-21812630	HCT-116	colon:	n/a	n/a
15	CTCF	chr12:21812480-21812630	GM12868	blood:	n/a	n/a
16	BRCA1	chr12:21812488-21812678	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
LDHB	TF binding region
ENSG00000256615	TF binding region

Extended variants
information (count: 162 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:157)

rs_ID	r²[population]
rs1012354	1.00[EUR][1000 genomes]
rs1030452	1.00[EUR][1000 genomes]
rs1030453	1.00[EUR][1000 genomes]
rs1072992	1.00[EUR][1000 genomes]
rs1072993	1.00[EUR][1000 genomes]
rs10841863	1.00[EUR][1000 genomes]
rs10841864	1.00[EUR][1000 genomes]
rs10841865	1.00[EUR][1000 genomes]
rs10841866	1.00[EUR][1000 genomes]
rs11829561	1.00[EUR][1000 genomes]
rs11835091	1.00[EUR][1000 genomes]
rs1427830	1.00[EUR][1000 genomes]
rs1478293	1.00[EUR][1000 genomes]
rs1540405	1.00[EUR][1000 genomes]
rs1614040	1.00[EUR][1000 genomes]
rs1616390	1.00[EUR][1000 genomes]
rs1624003	1.00[EUR][1000 genomes]
rs1626167	1.00[EUR][1000 genomes]
rs1626303	1.00[EUR][1000 genomes]
rs1629683	1.00[EUR][1000 genomes]
rs1630514	1.00[EUR][1000 genomes]
rs1650272	1.00[EUR][1000 genomes]
rs1650277	1.00[EUR][1000 genomes]
rs1650278	1.00[EUR][1000 genomes]
rs1650279	1.00[EUR][1000 genomes]
rs1650280	1.00[EUR][1000 genomes]
rs1650282	1.00[EUR][1000 genomes]
rs1650285	1.00[EUR][1000 genomes]
rs1650286	1.00[EUR][1000 genomes]
rs1650287	1.00[EUR][1000 genomes]
rs1650288	1.00[EUR][1000 genomes]
rs1650289	1.00[EUR][1000 genomes]
rs1650290	1.00[EUR][1000 genomes]
rs1650291	1.00[EUR][1000 genomes]
rs1650292	1.00[EUR][1000 genomes]
rs1650293	1.00[EUR][1000 genomes]
rs1650295	1.00[EUR][1000 genomes]
rs1650297	1.00[EUR][1000 genomes]
rs1650300	1.00[EUR][1000 genomes]
rs1650301	1.00[EUR][1000 genomes]
rs1650305	1.00[EUR][1000 genomes]
rs1650306	1.00[EUR][1000 genomes]
rs1650310	1.00[EUR][1000 genomes]
rs1650312	1.00[EUR][1000 genomes]
rs1650314	1.00[EUR][1000 genomes]
rs1650315	1.00[EUR][1000 genomes]
rs1650318	1.00[EUR][1000 genomes]
rs1677073	1.00[EUR][1000 genomes]
rs1677074	1.00[EUR][1000 genomes]
rs1677078	1.00[EUR][1000 genomes]
rs1677079	1.00[EUR][1000 genomes]
rs1677085	1.00[EUR][1000 genomes]
rs1677088	1.00[EUR][1000 genomes]
rs1677090	1.00[EUR][1000 genomes]
rs1677092	1.00[EUR][1000 genomes]
rs1677093	1.00[EUR][1000 genomes]
rs1677094	1.00[EUR][1000 genomes]
rs1677095	1.00[EUR][1000 genomes]
rs1677096	1.00[EUR][1000 genomes]
rs1677097	1.00[EUR][1000 genomes]
rs1677098	1.00[EUR][1000 genomes]
rs1677100	1.00[EUR][1000 genomes]
rs1677104	1.00[EUR][1000 genomes]
rs1677105	1.00[EUR][1000 genomes]
rs1677106	1.00[EUR][1000 genomes]
rs1677107	1.00[EUR][1000 genomes]
rs1677109	1.00[EUR][1000 genomes]
rs1677110	1.00[EUR][1000 genomes]
rs1677111	1.00[EUR][1000 genomes]
rs1677113	1.00[EUR][1000 genomes]
rs1677118	1.00[EUR][1000 genomes]
rs1677124	1.00[EUR][1000 genomes]
rs1677125	1.00[EUR][1000 genomes]
rs1677126	1.00[EUR][1000 genomes]
rs1677127	1.00[EUR][1000 genomes]
rs1677131	1.00[EUR][1000 genomes]
rs1677132	1.00[EUR][1000 genomes]
rs1677133	1.00[EUR][1000 genomes]
rs1677135	1.00[EUR][1000 genomes]
rs1677136	1.00[EUR][1000 genomes]
rs1677138	1.00[EUR][1000 genomes]
rs1677139	1.00[EUR][1000 genomes]
rs1677141	1.00[EUR][1000 genomes]
rs1813751	1.00[EUR][1000 genomes]
rs2077044	1.00[EUR][1000 genomes]
rs2217238	1.00[EUR][1000 genomes]
rs255449	1.00[EUR][1000 genomes]
rs255452	1.00[EUR][1000 genomes]
rs2617117	1.00[EUR][1000 genomes]
rs4237915	1.00[EUR][1000 genomes]
rs4438091	1.00[EUR][1000 genomes]
rs4762714	1.00[EUR][1000 genomes]
rs4762716	1.00[EUR][1000 genomes]
rs4762856	1.00[EUR][1000 genomes]
rs4762858	1.00[EUR][1000 genomes]
rs4762859	1.00[EUR][1000 genomes]
rs4762862	1.00[EUR][1000 genomes]
rs56013787	1.00[EUR][1000 genomes]
rs56035640	1.00[EUR][1000 genomes]
rs56066637	1.00[EUR][1000 genomes]
rs56160727	1.00[EUR][1000 genomes]
rs56271252	1.00[EUR][1000 genomes]
rs56729740	1.00[EUR][1000 genomes]
rs56871137	1.00[EUR][1000 genomes]
rs56994698	1.00[EUR][1000 genomes]
rs57115374	1.00[EUR][1000 genomes]
rs57200111	1.00[EUR][1000 genomes]
rs57338327	1.00[EUR][1000 genomes]
rs57842305	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58465040	1.00[EUR][1000 genomes]
rs58527132	1.00[EUR][1000 genomes]
rs59247664	1.00[EUR][1000 genomes]
rs59468844	1.00[EUR][1000 genomes]
rs59541120	1.00[EUR][1000 genomes]
rs60486179	1.00[EUR][1000 genomes]
rs60632805	1.00[EUR][1000 genomes]
rs60652753	1.00[EUR][1000 genomes]
rs61187969	1.00[EUR][1000 genomes]
rs61482461	1.00[EUR][1000 genomes]
rs7135799	1.00[EUR][1000 genomes]
rs7299674	1.00[EUR][1000 genomes]
rs7299680	1.00[EUR][1000 genomes]
rs7300051	1.00[EUR][1000 genomes]
rs73249228	1.00[EUR][1000 genomes]
rs73249231	1.00[EUR][1000 genomes]
rs73249234	1.00[EUR][1000 genomes]
rs73249241	1.00[EUR][1000 genomes]
rs73249265	1.00[EUR][1000 genomes]
rs73249266	1.00[EUR][1000 genomes]
rs73249268	1.00[EUR][1000 genomes]
rs73249276	1.00[EUR][1000 genomes]
rs73249282	1.00[EUR][1000 genomes]
rs73262386	1.00[EUR][1000 genomes]
rs736047	1.00[EUR][1000 genomes]
rs74066770	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74067628	1.00[EUR][1000 genomes]
rs74069327	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74069332	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74069343	1.00[EUR][1000 genomes]
rs74069345	1.00[EUR][1000 genomes]
rs74069349	1.00[EUR][1000 genomes]
rs74069350	1.00[EUR][1000 genomes]
rs74069351	1.00[EUR][1000 genomes]
rs74069352	1.00[EUR][1000 genomes]
rs74069353	1.00[EUR][1000 genomes]
rs74069354	1.00[EUR][1000 genomes]
rs74069355	1.00[EUR][1000 genomes]
rs74069356	1.00[EUR][1000 genomes]
rs74069357	1.00[EUR][1000 genomes]
rs74069362	1.00[EUR][1000 genomes]
rs74069363	1.00[EUR][1000 genomes]
rs759931	1.00[EUR][1000 genomes]
rs759932	1.00[EUR][1000 genomes]
rs759933	1.00[EUR][1000 genomes]
rs759934	1.00[EUR][1000 genomes]
rs7974267	1.00[EUR][1000 genomes]
rs962947	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043936	chr12:21562673-21979030	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv557741	chr12:21578559-22169854	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv469164	chr12:21688900-21966701	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv557744	chr12:21688900-21966701	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv832349	chr12:21749093-21930695	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21810800-21816400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:21811200-21812800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr12:21811200-21812800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
4	chr12:21811200-21813000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr12:21811200-21815400	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr12:21811600-21812800	Enhancers	Primary T cells from cord blood	blood
7	chr12:21811600-21813000	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr12:21811600-21813000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr12:21811800-21812800	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr12:21811800-21813000	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr12:21811800-21813200	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr12:21812000-21813000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr12:21812200-21813200	Enhancers	Primary T regulatory cells fromperipheralblood	blood

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