Variant report

Variant	rs1030453
Chromosome Location	chr12:21808431-21808432
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	POLR2A	chr12:21808348-21808477	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr12:21808404-21809424	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr12:21807938-21811135	K562	blood:	n/a	n/a
4	POLR2A	chr12:21808265-21811279	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr12:21808421-21808809	GM12892	blood:	n/a	n/a
6	GATA1	chr12:21808115-21809385	PBDE	blood:	n/a	chr12:21808363-21808379 chr12:21808382-21808390 chr12:21808729-21808746 chr12:21808300-21808309
7	POLR2A	chr12:21807979-21809332	PFSK-1	brain:	n/a	n/a
8	POLR2A	chr12:21808161-21809012	MCF10A-Er-Src	breast:	n/a	n/a
9	MXI1	chr12:21808325-21811442	SK-N-SH	brain:	n/a	n/a
10	POLR2A	chr12:21805185-21809496	A549	lung:	n/a	n/a

Variant related genes	Relation type
LDHB	TF binding region

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	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1072992	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1072993	1.00[YRI][hapmap];1.00[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	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1540405	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1613889	0.92[AFR][1000 genomes]
rs1614040	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1616390	1.00[YRI][hapmap];1.00[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	0.87[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	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1650287	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1650288	1.00[EUR][1000 genomes]
rs1650289	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1650290	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1650291	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1650292	1.00[EUR][1000 genomes]
rs1650293	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1650295	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1650297	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1650300	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1650301	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1650305	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1650306	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1650310	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1650312	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1650314	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1650315	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1650318	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1677073	0.83[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1677074	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1677078	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1677079	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1677085	1.00[YRI][hapmap];1.00[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	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1677105	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1677106	0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1677107	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1677109	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1677110	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1677111	1.00[YRI][hapmap];1.00[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	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1677126	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1677127	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1677131	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1677132	0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1677133	1.00[YRI][hapmap];1.00[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	1.00[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	1.00[AFR][1000 genomes]
rs255449	0.96[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]
rs4237915	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4337087	0.89[AFR][1000 genomes]
rs4438091	1.00[EUR][1000 genomes]
rs4762714	1.00[EUR][1000 genomes]
rs4762716	1.00[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	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	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61187969	1.00[EUR][1000 genomes]
rs61482461	1.00[EUR][1000 genomes]
rs7135799	1.00[YRI][hapmap];1.00[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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs759933	1.00[EUR][1000 genomes]
rs759934	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7953451	0.90[AFR][1000 genomes]
rs7974267	1.00[EUR][1000 genomes]
rs962947	1.00[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	chr12:21787200-21808600	Strong transcription	HMEC	breast
3	chr12:21787200-21808600	Strong transcription	HSMM	muscle
4	chr12:21788000-21809200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:21788600-21810000	Weak transcription	Liver	Liver
6	chr12:21791800-21809400	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr12:21798800-21809600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr12:21804000-21809200	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr12:21804200-21810000	Weak transcription	Stomach Mucosa	stomach
10	chr12:21804400-21809200	Weak transcription	Fetal Stomach	stomach
11	chr12:21804400-21810000	Weak transcription	Spleen	Spleen
12	chr12:21804600-21808800	Weak transcription	Fetal Intestine Small	intestine
13	chr12:21804600-21809000	Weak transcription	Brain Germinal Matrix	brain
14	chr12:21804600-21809600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr12:21804600-21809800	Weak transcription	Esophagus	oesophagus
16	chr12:21804600-21809800	Weak transcription	Gastric	stomach
17	chr12:21805200-21808600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr12:21805800-21809000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr12:21806000-21810600	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
20	chr12:21806200-21809200	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr12:21806400-21809400	Weak transcription	Aorta	Aorta
22	chr12:21806400-21809600	Weak transcription	Lung	lung
23	chr12:21806400-21809600	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr12:21806600-21809000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr12:21806800-21808800	Transcr. at gene 5' and 3'	Dnd41	blood
26	chr12:21807000-21808600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr12:21807000-21808600	Weak transcription	Right Ventricle	heart
28	chr12:21807000-21809800	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
29	chr12:21807000-21810200	Transcr. at gene 5' and 3'	A549	lung
30	chr12:21807200-21808600	Weak transcription	Stomach Smooth Muscle	stomach
31	chr12:21807200-21808800	Weak transcription	Fetal Brain Male	brain
32	chr12:21807200-21808800	Weak transcription	Psoas Muscle	Psoas
33	chr12:21807200-21809200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr12:21807200-21809200	Weak transcription	Left Ventricle	heart
35	chr12:21807200-21809400	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr12:21807400-21809000	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
37	chr12:21807400-21809200	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr12:21807400-21809400	Weak transcription	Placenta	Placenta
39	chr12:21807400-21809800	Weak transcription	Colonic Mucosa	Colon
40	chr12:21807600-21808600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr12:21807600-21808600	Weak transcription	Fetal Kidney	kidney
42	chr12:21807600-21808600	Weak transcription	Ovary	ovary
43	chr12:21807600-21808600	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr12:21807600-21808600	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr12:21807600-21808600	Weak transcription	Rectal Smooth Muscle	rectum
46	chr12:21807600-21808600	Weak transcription	Thymus	Thymus
47	chr12:21807600-21808800	Weak transcription	Primary B cells from cord blood	blood
48	chr12:21807600-21808800	Weak transcription	Fetal Intestine Large	intestine
49	chr12:21807600-21809000	Weak transcription	HSMMtube	muscle
50	chr12:21807600-21809200	Weak transcription	Primary monocytes fromperipheralblood	blood

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