Variant report

Variant	rs12362434
Chromosome Location	chr11:10824362-10824363
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:30)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:30 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:10823011-10827046	GM12878	blood:	n/a	n/a
2	POLR2A	chr11:10824041-10825743	GM12892	blood:	n/a	n/a
3	POLR2A	chr11:10823496-10824569	K562	blood:	n/a	n/a
4	POLR2A	chr11:10824295-10824743	K562	blood:	n/a	n/a
5	POLR2A	chr11:10823501-10827153	GM12892	blood:	n/a	n/a
6	POLR2A	chr11:10823021-10827103	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr11:10822870-10826591	GM12892	blood:	n/a	n/a
8	POLR2A	chr11:10822902-10831523	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr11:10824325-10825673	HepG2	liver:	n/a	n/a
10	POLR2A	chr11:10823466-10827176	PANC-1	pancreas:	n/a	n/a
11	POLR2A	chr11:10816236-10827066	HepG2	liver:	n/a	n/a
12	POLR2A	chr11:10824075-10825656	GM12891	blood:	n/a	n/a
13	POLR2A	chr11:10824253-10824660	GM12891	blood:	n/a	n/a
14	POLR2A	chr11:10824268-10824873	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr11:10822804-10824758	PFSK-1	brain:	n/a	n/a
16	POLR2A	chr11:10822845-10827146	GM12878	blood:	n/a	n/a
17	POLR2A	chr11:10824251-10824522	GM12891	blood:	n/a	n/a
18	POLR2A	chr11:10824269-10824413	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr11:10823691-10824470	HepG2	liver:	n/a	n/a
20	POLR2A	chr11:10824117-10824412	ProgFib	skin:	n/a	n/a
21	HEY1	chr11:10824275-10824689	K562	blood:	n/a	n/a
22	POLR2A	chr11:10822906-10831756	GM12891	blood:	n/a	n/a
23	POLR2A	chr11:10823502-10831958	PANC-1	pancreas:	n/a	n/a
24	POLR2A	chr11:10822923-10826436	GM12878	blood:	n/a	n/a
25	POLR2A	chr11:10824278-10826643	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr11:10823487-10825679	SK-N-MC	brain:	n/a	n/a
27	POLR2A	chr11:10823069-10824416	K562	blood:	n/a	n/a
28	POLR2A	chr11:10816185-10831561	K562	blood:	n/a	n/a
29	POLR2A	chr11:10824310-10824558	HepG2	liver:	n/a	n/a
30	POLR2A	chr11:10824262-10824389	MCF-7	breast:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:10822404..10825396-chr11:10877343..10880105,2	MCF-7	breast:
2	chr11:10821312..10832598-chr11:10875146..10882197,42	K562	blood:
3	chr11:10821010..10837911-chr11:10870747..10882644,62	K562	blood:

No data

Variant related genes	Relation type
EIF4G2	TF binding region
SNORD97	TF binding region
ENSG00000236287	Chromatin interaction
ENSG00000247271	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11042952	1.00[AMR][1000 genomes]
rs12364254	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1037639	chr11:10737790-10871809	Flanking Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
2	nsv1040606	chr11:10763753-10995698	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	135 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	chr11:10814600-10828800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:10816600-10824600	Strong transcription	Fetal Brain Female	brain
3	chr11:10816600-10826200	Strong transcription	Brain Hippocampus Middle	brain
4	chr11:10816600-10826400	Strong transcription	Primary hematopoietic stem cells	blood
5	chr11:10816600-10826400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr11:10816600-10827000	Strong transcription	Fetal Muscle Trunk	muscle
7	chr11:10817000-10824400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr11:10817000-10824400	Strong transcription	Brain Germinal Matrix	brain
9	chr11:10817000-10826400	Strong transcription	Rectal Mucosa Donor 29	rectum
10	chr11:10817000-10826600	Strong transcription	Placenta	Placenta
11	chr11:10817000-10826800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr11:10817200-10826600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr11:10817400-10825000	Strong transcription	Duodenum Mucosa	Duodenum
14	chr11:10817400-10825000	Strong transcription	Small Intestine	intestine
15	chr11:10817400-10825400	Strong transcription	Muscle Satellite Cultured Cells	--
16	chr11:10817400-10825400	Strong transcription	Fetal Thymus	thymus
17	chr11:10817400-10825600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr11:10817400-10825800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr11:10817400-10826400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr11:10817400-10826800	Strong transcription	Primary B cells from peripheral blood	blood
21	chr11:10817400-10826800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr11:10817400-10826800	Strong transcription	Brain Inferior Temporal Lobe	brain
23	chr11:10817400-10826800	Strong transcription	Thymus	Thymus
24	chr11:10817400-10827200	Strong transcription	Liver	Liver
25	chr11:10817400-10827400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr11:10817400-10827400	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr11:10817600-10824800	Strong transcription	Fetal Lung	lung
28	chr11:10817600-10825000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr11:10817600-10825400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr11:10817600-10825800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr11:10817600-10826000	Strong transcription	Brain Anterior Caudate	brain
32	chr11:10817600-10826200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr11:10817600-10826400	Strong transcription	Stomach Smooth Muscle	stomach
34	chr11:10817600-10826400	Strong transcription	Hela-S3	cervix
35	chr11:10817600-10826400	Strong transcription	NHLF	lung
36	chr11:10817600-10826600	Strong transcription	Osteobl	bone
37	chr11:10817600-10826800	Strong transcription	NHEK	skin
38	chr11:10817600-10827200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
39	chr11:10817600-10827400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
40	chr11:10817600-10827800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr11:10817600-10828000	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr11:10817800-10825000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr11:10817800-10825000	Strong transcription	HepG2	liver
44	chr11:10817800-10825000	Strong transcription	NHDF-Ad	bronchial
45	chr11:10817800-10825400	Strong transcription	Brain Cingulate Gyrus	brain
46	chr11:10817800-10825800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr11:10817800-10825800	Strong transcription	Pancreas	Pancrea
48	chr11:10817800-10825800	Strong transcription	NH-A	brain
49	chr11:10817800-10826000	Strong transcription	Skeletal Muscle Male	skeletal muscle
50	chr11:10817800-10826200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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