Variant report

Variant	rs4237915
Chromosome Location	chr12:21809448-21809449
allele	A/G
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	CEBPB	chr12:21808911-21809460	IMR90	lung:	n/a	n/a
2	CHD1	chr12:21808698-21810976	H1-hESC	embryonic stem cell:	n/a	chr12:21809894-21809904
3	POLR2A	chr12:21809262-21809468	H1-hESC	embryonic stem cell:	n/a	n/a
4	MYC	chr12:21809323-21811088	MCF10A-Er-Src	breast:	n/a	chr12:21810341-21810352 chr12:21810784-21810794 chr12:21810919-21810929 chr12:21810137-21810146 chr12:21810781-21810791
5	POLR2A	chr12:21809282-21811114	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr12:21808471-21811183	GM12891	blood:	n/a	n/a
7	POLR2A	chr12:21808476-21811157	MCF10A-Er-Src	breast:	n/a	n/a
8	REST	chr12:21809379-21811195	H1-neurons	neurons:	n/a	chr12:21810192-21810200 chr12:21810322-21810335 chr12:21810400-21810409 chr12:21809930-21809948
9	MAX	chr12:21809122-21811140	NB4	blood:	n/a	chr12:21810341-21810352 chr12:21810784-21810794 chr12:21810919-21810929 chr12:21810137-21810146 chr12:21810781-21810791
10	MYC	chr12:21809126-21811134	NB4	blood:	n/a	chr12:21810341-21810352 chr12:21810784-21810794 chr12:21810919-21810929 chr12:21810137-21810146 chr12:21810781-21810791
11	POLR2A	chr12:21807938-21811135	K562	blood:	n/a	n/a
12	POLR2A	chr12:21808265-21811279	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr12:21809053-21811207	SK-N-MC	brain:	n/a	n/a
14	POLR2A	chr12:21808688-21810981	Hela-S3	cervix:	n/a	n/a
15	RAD21	chr12:21809301-21809463	A549	lung:	n/a	n/a
16	MXI1	chr12:21809225-21811200	IMR90	lung:	n/a	n/a
17	MXI1	chr12:21808325-21811442	SK-N-SH	brain:	n/a	n/a
18	POLR2A	chr12:21805185-21809496	A549	lung:	n/a	n/a
19	IRF1	chr12:21808446-21811074	K562	blood:	n/a	chr12:21808676-21808690 chr12:21809480-21809494 chr12:21808675-21808688 chr12:21809874-21809886 chr12:21808677-21808688 chr12:21809874-21809886 chr12:21809477-21809494 chr12:21808675-21808688 chr12:21809480-21809491 chr12:21808679-21808689 chr12:21809478-21809491 chr12:21808676-21808688 chr12:21808673-21808687 chr12:21808670-21808684 chr12:21810785-21810799 chr12:21808675-21808688 chr12:21809479-21809496 chr12:21808674-21808688 chr12:21808676-21808689 chr12:21808671-21808682 chr12:21808676-21808690 chr12:21809230-21809247 chr12:21808669-21808689 chr12:21808676-21808688 chr12:21808675-21808688 chr12:21809480-21809490 chr12:21809874-21809885 chr12:21809869-21809886 chr12:21809476-21809490

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:21589456..21592020-chr12:21808889..21812230,4	K562	blood:
2	chr12:21809057..21812387-chr12:22198017..22201408,5	K562	blood:

Variant related genes	Relation type
LDHB	TF binding region
ENSG00000111726	Chromatin interaction
ENSG00000121350	Chromatin interaction

Extended variants
information (count: 166 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:161)

rs_ID	r²[population]
rs1012354	1.00[EUR][1000 genomes]
rs1030452	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1030453	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1072992	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1072993	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];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	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1540405	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1613889	0.84[AFR][1000 genomes]
rs1614040	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1616390	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1624003	1.00[EUR][1000 genomes]
rs1626167	1.00[EUR][1000 genomes]
rs1626303	1.00[EUR][1000 genomes]
rs1629683	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];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	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1650287	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1650288	1.00[EUR][1000 genomes]
rs1650289	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1650290	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1650291	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1650292	1.00[EUR][1000 genomes]
rs1650293	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1650295	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1650297	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1650300	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1650301	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1650305	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1650306	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1650310	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1650312	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1650314	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1650315	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1650318	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1677073	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1677074	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1677078	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1677079	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1677085	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];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	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1677105	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1677106	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1677107	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1677109	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1677110	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1677111	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1677113	1.00[EUR][1000 genomes]
rs1677118	1.00[EUR][1000 genomes]
rs1677124	1.00[EUR][1000 genomes]
rs1677125	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1677126	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1677127	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1677131	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1677132	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1677133	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1677135	1.00[EUR][1000 genomes]
rs1677136	1.00[EUR][1000 genomes]
rs1677138	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];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]
rs2247376	0.92[AFR][1000 genomes]
rs255449	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs255452	1.00[EUR][1000 genomes]
rs2617117	1.00[EUR][1000 genomes]
rs4337087	0.81[AFR][1000 genomes]
rs4438091	1.00[EUR][1000 genomes]
rs4762714	1.00[EUR][1000 genomes]
rs4762716	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];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[EUR][1000 genomes]
rs58465040	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];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	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61187969	1.00[EUR][1000 genomes]
rs61482461	1.00[EUR][1000 genomes]
rs7135799	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];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	1.00[EUR][1000 genomes]
rs74067628	1.00[EUR][1000 genomes]
rs74069327	1.00[EUR][1000 genomes]
rs74069332	1.00[EUR][1000 genomes]
rs74069333	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	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs759933	1.00[EUR][1000 genomes]
rs759934	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7953451	0.82[AFR][1000 genomes]
rs7974267	1.00[EUR][1000 genomes]
rs962947	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21781200-21809600	Weak transcription	Small Intestine	intestine
2	chr12:21788600-21810000	Weak transcription	Liver	Liver
3	chr12:21798800-21809600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr12:21804200-21810000	Weak transcription	Stomach Mucosa	stomach
5	chr12:21804400-21810000	Weak transcription	Spleen	Spleen
6	chr12:21804600-21809600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr12:21804600-21809800	Weak transcription	Esophagus	oesophagus
8	chr12:21804600-21809800	Weak transcription	Gastric	stomach
9	chr12:21806000-21810600	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
10	chr12:21806400-21809600	Weak transcription	Lung	lung
11	chr12:21806400-21809600	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr12:21807000-21809800	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
13	chr12:21807000-21810200	Transcr. at gene 5' and 3'	A549	lung
14	chr12:21807400-21809800	Weak transcription	Colonic Mucosa	Colon
15	chr12:21807600-21809600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:21807600-21809800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr12:21807600-21811400	Active TSS	GM12878-XiMat	blood
18	chr12:21807800-21809600	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
19	chr12:21807800-21810200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
20	chr12:21808000-21809600	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
21	chr12:21808000-21809600	Weak transcription	Pancreas	Pancrea
22	chr12:21808000-21810200	Active TSS	Right Atrium	heart
23	chr12:21808200-21809600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
24	chr12:21808200-21809600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr12:21808200-21809800	Flanking Active TSS	Primary T cells from cord blood	blood
26	chr12:21808200-21810800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr12:21808200-21811000	Active TSS	Primary T cells fromperipheralblood	blood
28	chr12:21808200-21811200	Active TSS	iPS-15b Cell Line	embryonic stem cell
29	chr12:21808200-21811200	Active TSS	K562	blood
30	chr12:21808400-21809600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr12:21808400-21809600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
32	chr12:21808400-21809600	Flanking Active TSS	Osteobl	bone
33	chr12:21808400-21809800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
34	chr12:21808400-21810600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr12:21808400-21811200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr12:21808400-21811200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr12:21808600-21809600	Flanking Active TSS	Brain Hippocampus Middle	brain
38	chr12:21808600-21809600	Transcr. at gene 5' and 3'	HMEC	breast
39	chr12:21808600-21810800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr12:21808600-21810800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
41	chr12:21808600-21810800	Flanking Active TSS	Primary hematopoietic stem cells	blood
42	chr12:21808600-21810800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
43	chr12:21808600-21811200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr12:21808600-21811200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr12:21808600-21811200	Active TSS	Brain Substantia Nigra	brain
46	chr12:21808600-21811200	Active TSS	Ovary	ovary
47	chr12:21808600-21811200	Active TSS	Rectal Mucosa Donor 29	rectum
48	chr12:21808600-21811200	Active TSS	Right Ventricle	heart
49	chr12:21808600-21811400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr12:21808600-21811800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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