Variant report

Variant	rs12284013
Chromosome Location	chr11:18419826-18419827
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:24)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:24 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:18415374-18419965	PFSK-1	brain:	n/a	n/a
2	POLR2A	chr11:18419404-18419938	GM12878	blood:	n/a	n/a
3	POLR2A	chr11:18418587-18420029	A549	lung:	n/a	n/a
4	HEY1	chr11:18419211-18422587	HepG2	liver:	n/a	n/a
5	POLR2A	chr11:18415356-18422999	PFSK-1	brain:	n/a	n/a
6	POLR2A	chr11:18419260-18422165	SK-N-MC	brain:	n/a	n/a
7	POLR2A	chr11:18419602-18419883	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr11:18419571-18419826	ProgFib	skin:	n/a	n/a
9	POLR2A	chr11:18418927-18419830	K562	blood:	n/a	n/a
10	POLR2A	chr11:18415438-18420199	IMR90	lung:	n/a	n/a
11	POLR2A	chr11:18415270-18432749	U87	brain:	n/a	n/a
12	POLR2A	chr11:18419212-18420062	HepG2	liver:	n/a	n/a
13	POLR2A	chr11:18419064-18420036	HepG2	liver:	n/a	n/a
14	POLR2A	chr11:18419278-18420079	HepG2	liver:	n/a	n/a
15	POLR2A	chr11:18419035-18419987	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr11:18415437-18420128	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr11:18415524-18420304	U87	brain:	n/a	n/a
18	POLR2A	chr11:18415312-18424472	HepG2	liver:	n/a	n/a
19	POLR2A	chr11:18415489-18420124	GM12878	blood:	n/a	n/a
20	POLR2A	chr11:18419492-18419983	SK-N-SH	brain:	n/a	n/a
21	POLR2A	chr11:18415373-18432749	U87	brain:	n/a	n/a
22	POLR2A	chr11:18419354-18419932	HepG2	liver:	n/a	n/a
23	POLR2A	chr11:18419297-18419912	HCT-116	colon:	n/a	n/a
24	POLR2A	chr11:18415580-18422609	U87	brain:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:18415873..18420206-chr11:18430045..18435036,6	MCF-7	breast:
2	chr11:18414611..18420404-chr11:18425224..18433817,11	K562	blood:

No data

Variant related genes	Relation type
LDHA	TF binding region
ENSG00000256006	Chromatin interaction
ENSG00000166796	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10832925	0.93[EUR][1000 genomes]
rs10832928	1.00[CEU][hapmap];0.85[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11024637	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11024642	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11024644	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11024647	0.83[YRI][hapmap];0.85[AFR][1000 genomes]
rs12269752	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs12270402	0.81[AFR][1000 genomes]
rs12273776	0.93[EUR][1000 genomes]
rs12274166	0.93[EUR][1000 genomes]
rs12274651	1.00[CEU][hapmap];0.84[YRI][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12275692	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs12276166	0.93[EUR][1000 genomes]
rs12284667	0.93[EUR][1000 genomes]
rs12287183	0.93[EUR][1000 genomes]
rs12293002	0.83[AFR][1000 genomes]
rs12795955	0.84[AFR][1000 genomes]
rs12799374	0.83[AFR][1000 genomes]
rs12804008	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12806009	0.84[AFR][1000 genomes]
rs2896527	0.85[YRI][hapmap]
rs35126672	0.86[AFR][1000 genomes]
rs7932887	1.00[CEU][hapmap];0.81[YRI][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949248	chr11:17791822-18692687	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv933836	chr11:18300254-18440933	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	nsv553633	chr11:18311701-19058451	Weak transcription Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers 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	144 gene(s)	inside rSNPs	diseases
4	nsv1047049	chr11:18359702-18520008	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
5	nsv540955	chr11:18359702-18520008	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
6	esv1811183	chr11:18389643-18432437	Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 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	chr11:18416800-18421000	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr11:18418000-18420000	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr11:18418000-18420000	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr11:18418000-18420200	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
5	chr11:18418000-18422200	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
6	chr11:18418200-18420000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr11:18418200-18420600	Weak transcription	Pancreas	Pancrea
8	chr11:18418200-18425600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr11:18418200-18433800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:18418400-18420000	Transcr. at gene 5' and 3'	HepG2	liver
11	chr11:18418400-18420400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr11:18418400-18420800	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr11:18418400-18421000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr11:18418400-18421800	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr11:18418400-18422200	Strong transcription	Esophagus	oesophagus
16	chr11:18418400-18430600	Strong transcription	Fetal Muscle Trunk	muscle
17	chr11:18418400-18430800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr11:18418400-18430800	Strong transcription	Left Ventricle	heart
19	chr11:18418400-18433200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr11:18418600-18420200	Strong transcription	Fetal Kidney	kidney
21	chr11:18418600-18420400	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr11:18418600-18420600	Weak transcription	Fetal Brain Male	brain
23	chr11:18418600-18420800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr11:18418600-18420800	Genic enhancers	Skeletal Muscle Female	skeletal muscle
25	chr11:18418600-18421200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr11:18418600-18422400	Strong transcription	Primary B cells from cord blood	blood
27	chr11:18418600-18422600	Strong transcription	Brain Inferior Temporal Lobe	brain
28	chr11:18418600-18422600	Strong transcription	Stomach Smooth Muscle	stomach
29	chr11:18418600-18427800	Strong transcription	Liver	Liver
30	chr11:18418600-18428600	Strong transcription	Fetal Intestine Large	intestine
31	chr11:18418600-18429400	Strong transcription	Primary T killer memory cells from peripheral blood	blood
32	chr11:18418600-18429800	Strong transcription	H1 Cell Line	embryonic stem cell
33	chr11:18418600-18430400	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr11:18418600-18430400	Strong transcription	Primary B cells from peripheral blood	blood
35	chr11:18418600-18430400	Strong transcription	Placenta	Placenta
36	chr11:18418600-18430400	Strong transcription	Rectal Mucosa Donor 31	rectum
37	chr11:18418600-18430400	Strong transcription	Skeletal Muscle Male	skeletal muscle
38	chr11:18418600-18430600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr11:18418600-18430600	Strong transcription	Placenta Amnion	Placenta Amnion
40	chr11:18418600-18430600	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr11:18418600-18430800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr11:18418600-18430800	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr11:18418600-18430800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
44	chr11:18418600-18430800	Strong transcription	Duodenum Smooth Muscle	Duodenum
45	chr11:18418600-18430800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr11:18418600-18430800	Strong transcription	Fetal Muscle Leg	muscle
47	chr11:18418600-18430800	Strong transcription	Fetal Stomach	stomach
48	chr11:18418600-18430800	Strong transcription	Fetal Thymus	thymus
49	chr11:18418600-18430800	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr11:18418600-18430800	Strong transcription	Right Ventricle	heart

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