Variant report

Variant	rs57749239
Chromosome Location	chr11:18422024-18422025
allele	-/ACACAC
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:29)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:29 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:18420390-18422599	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr11:18421094-18422531	K562	blood:	n/a	n/a
3	POLR2A	chr11:18421924-18422435	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr11:18420415-18422567	HepG2	liver:	n/a	n/a
5	HEY1	chr11:18419211-18422587	HepG2	liver:	n/a	n/a
6	POLR2A	chr11:18421921-18422148	K562	blood:	n/a	n/a
7	POLR2A	chr11:18415356-18422999	PFSK-1	brain:	n/a	n/a
8	POLR2A	chr11:18419260-18422165	SK-N-MC	brain:	n/a	n/a
9	POLR2A	chr11:18420893-18422605	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr11:18421123-18422516	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr11:18420423-18422134	HCT-116	colon:	n/a	n/a
12	POLR2A	chr11:18415270-18432749	U87	brain:	n/a	n/a
13	POLR2A	chr11:18422024-18422512	PANC-1	pancreas:	n/a	n/a
14	POLR2A	chr11:18421610-18422170	K562	blood:	n/a	n/a
15	POLR2A	chr11:18421036-18422550	K562	blood:	n/a	n/a
16	POLR2A	chr11:18420627-18422568	GM12891	blood:	n/a	n/a
17	POLR2A	chr11:18421884-18422422	K562	blood:	n/a	n/a
18	POLR2A	chr11:18421295-18422572	K562	blood:	n/a	n/a
19	POLR2A	chr11:18415312-18424472	HepG2	liver:	n/a	n/a
20	POLR2A	chr11:18421081-18422396	A549	lung:	n/a	n/a
21	POLR2A	chr11:18421524-18422045	PANC-1	pancreas:	n/a	n/a
22	POLR2A	chr11:18420249-18422882	PFSK-1	brain:	n/a	n/a
23	POLR2A	chr11:18420457-18422625	GM12878	blood:	n/a	n/a
24	POLR2A	chr11:18420370-18422609	U87	brain:	n/a	n/a
25	POLR2A	chr11:18415373-18432749	U87	brain:	n/a	n/a
26	POLR2A	chr11:18420474-18422593	HepG2	liver:	n/a	n/a
27	POLR2A	chr11:18420528-18422227	HepG2	liver:	n/a	n/a
28	POLR2A	chr11:18415580-18422609	U87	brain:	n/a	n/a
29	POLR2A	chr11:18420367-18422648	HepG2	liver:	n/a	n/a

No data

Variant related genes	Relation type
LDHA	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 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
7	nsv38733	chr11:18421998-18422029	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	inside rSNPs	diseases
8	esv995954	chr11:18422016-18422028	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription	TF binding region	1 gene(s)	inside rSNPs	diseases
9	esv1723132	chr11:18422016-18422028	Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region	1 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	chr11:18418000-18422200	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
2	chr11:18418200-18425600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:18418200-18433800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:18418400-18422200	Strong transcription	Esophagus	oesophagus
5	chr11:18418400-18430600	Strong transcription	Fetal Muscle Trunk	muscle
6	chr11:18418400-18430800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr11:18418400-18430800	Strong transcription	Left Ventricle	heart
8	chr11:18418400-18433200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr11:18418600-18422400	Strong transcription	Primary B cells from cord blood	blood
10	chr11:18418600-18422600	Strong transcription	Brain Inferior Temporal Lobe	brain
11	chr11:18418600-18422600	Strong transcription	Stomach Smooth Muscle	stomach
12	chr11:18418600-18427800	Strong transcription	Liver	Liver
13	chr11:18418600-18428600	Strong transcription	Fetal Intestine Large	intestine
14	chr11:18418600-18429400	Strong transcription	Primary T killer memory cells from peripheral blood	blood
15	chr11:18418600-18429800	Strong transcription	H1 Cell Line	embryonic stem cell
16	chr11:18418600-18430400	Strong transcription	HUES6 Cell Line	embryonic stem cell
17	chr11:18418600-18430400	Strong transcription	Primary B cells from peripheral blood	blood
18	chr11:18418600-18430400	Strong transcription	Placenta	Placenta
19	chr11:18418600-18430400	Strong transcription	Rectal Mucosa Donor 31	rectum
20	chr11:18418600-18430400	Strong transcription	Skeletal Muscle Male	skeletal muscle
21	chr11:18418600-18430600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr11:18418600-18430600	Strong transcription	Placenta Amnion	Placenta Amnion
23	chr11:18418600-18430600	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr11:18418600-18430800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr11:18418600-18430800	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr11:18418600-18430800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr11:18418600-18430800	Strong transcription	Duodenum Smooth Muscle	Duodenum
28	chr11:18418600-18430800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr11:18418600-18430800	Strong transcription	Fetal Muscle Leg	muscle
30	chr11:18418600-18430800	Strong transcription	Fetal Stomach	stomach
31	chr11:18418600-18430800	Strong transcription	Fetal Thymus	thymus
32	chr11:18418600-18430800	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr11:18418600-18430800	Strong transcription	Right Ventricle	heart
34	chr11:18418800-18422600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr11:18418800-18422600	Strong transcription	Brain Cingulate Gyrus	brain
36	chr11:18418800-18422800	Strong transcription	NH-A	brain
37	chr11:18418800-18427400	Strong transcription	Primary hematopoietic stem cells	blood
38	chr11:18418800-18427600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr11:18418800-18430400	Strong transcription	HUES48 Cell Line	embryonic stem cell
40	chr11:18418800-18430600	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr11:18418800-18430600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
42	chr11:18418800-18430600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr11:18418800-18430600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr11:18418800-18430800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr11:18418800-18430800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr11:18418800-18430800	Strong transcription	Adipose Nuclei	Adipose
47	chr11:18418800-18430800	Strong transcription	Osteobl	bone
48	chr11:18418800-18431000	Strong transcription	Primary neutrophils fromperipheralblood	blood
49	chr11:18419000-18422200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr11:18419000-18422200	Strong transcription	Ovary	ovary

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