Variant report

Variant	rs144496208
Chromosome Location	chr11:18424882-18424883
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:18423152-18426137	U87	brain:	n/a	n/a
2	POLR2A	chr11:18424641-18424970	HepG2	liver:	n/a	n/a
3	POLR2A	chr11:18424720-18424953	A549	lung:	n/a	n/a
4	POLR2A	chr11:18423172-18426105	GM12878	blood:	n/a	n/a
5	POLR2A	chr11:18424688-18424945	HCT-116	colon:	n/a	n/a
6	POLR2A	chr11:18423186-18426169	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr11:18423656-18426137	U87	brain:	n/a	n/a
8	POLR2A	chr11:18424754-18426640	HepG2	liver:	n/a	n/a
9	HEY1	chr11:18423637-18424901	HepG2	liver:	n/a	n/a
10	POLR2A	chr11:18415270-18432749	U87	brain:	n/a	n/a
11	POLR2A	chr11:18423654-18428119	PFSK-1	brain:	n/a	n/a
12	POLR2A	chr11:18423152-18426131	HepG2	liver:	n/a	n/a
13	POLR2A	chr11:18423307-18425413	K562	blood:	n/a	n/a
14	POLR2A	chr11:18423799-18427360	HepG2	liver:	n/a	n/a
15	POLR2A	chr11:18424809-18426115	PFSK-1	brain:	n/a	n/a
16	POLR2A	chr11:18415373-18432749	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	chr11:18342292..18344024-chr11:18424254..18426618,2	MCF-7	breast:
2	chr11:18423297..18429050-chr11:18429237..18433863,11	K562	blood:

No data

Variant related genes	Relation type
ENSG00000256006	TF binding region
ENSG00000110756	Chromatin interaction
ENSG00000110768	Chromatin interaction
ENSG00000166796	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv982991	chr11:18424852-18431306	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 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	chr11:18418200-18425600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:18418200-18433800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:18418400-18430600	Strong transcription	Fetal Muscle Trunk	muscle
4	chr11:18418400-18430800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr11:18418400-18430800	Strong transcription	Left Ventricle	heart
6	chr11:18418400-18433200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr11:18418600-18427800	Strong transcription	Liver	Liver
8	chr11:18418600-18428600	Strong transcription	Fetal Intestine Large	intestine
9	chr11:18418600-18429400	Strong transcription	Primary T killer memory cells from peripheral blood	blood
10	chr11:18418600-18429800	Strong transcription	H1 Cell Line	embryonic stem cell
11	chr11:18418600-18430400	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr11:18418600-18430400	Strong transcription	Primary B cells from peripheral blood	blood
13	chr11:18418600-18430400	Strong transcription	Placenta	Placenta
14	chr11:18418600-18430400	Strong transcription	Rectal Mucosa Donor 31	rectum
15	chr11:18418600-18430400	Strong transcription	Skeletal Muscle Male	skeletal muscle
16	chr11:18418600-18430600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:18418600-18430600	Strong transcription	Placenta Amnion	Placenta Amnion
18	chr11:18418600-18430600	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr11:18418600-18430800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr11:18418600-18430800	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr11:18418600-18430800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr11:18418600-18430800	Strong transcription	Duodenum Smooth Muscle	Duodenum
23	chr11:18418600-18430800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr11:18418600-18430800	Strong transcription	Fetal Muscle Leg	muscle
25	chr11:18418600-18430800	Strong transcription	Fetal Stomach	stomach
26	chr11:18418600-18430800	Strong transcription	Fetal Thymus	thymus
27	chr11:18418600-18430800	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr11:18418600-18430800	Strong transcription	Right Ventricle	heart
29	chr11:18418800-18427400	Strong transcription	Primary hematopoietic stem cells	blood
30	chr11:18418800-18427600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr11:18418800-18430400	Strong transcription	HUES48 Cell Line	embryonic stem cell
32	chr11:18418800-18430600	Strong transcription	HUES64 Cell Line	embryonic stem cell
33	chr11:18418800-18430600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chr11:18418800-18430600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr11:18418800-18430600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr11:18418800-18430800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr11:18418800-18430800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr11:18418800-18430800	Strong transcription	Adipose Nuclei	Adipose
39	chr11:18418800-18430800	Strong transcription	Osteobl	bone
40	chr11:18418800-18431000	Strong transcription	Primary neutrophils fromperipheralblood	blood
41	chr11:18419000-18426800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr11:18419000-18428000	Strong transcription	Colonic Mucosa	Colon
43	chr11:18419000-18429200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr11:18419000-18430000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
45	chr11:18419000-18430400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr11:18419000-18430600	Strong transcription	Duodenum Mucosa	Duodenum
47	chr11:18419000-18430800	Strong transcription	Brain Anterior Caudate	brain
48	chr11:18419000-18430800	Strong transcription	Fetal Intestine Small	intestine
49	chr11:18419000-18431400	Strong transcription	HSMM	muscle
50	chr11:18419200-18428400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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