Variant report

Variant	rs531798119
Chromosome Location	chr11:18391248-18391249
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:18389829..18393207-chr11:18415267..18417660,3	K562	blood:
2	chr11:18386073..18387800-chr11:18389640..18392386,2	K562	blood:
3	chr11:18390732..18392479-chr11:18415393..18418299,2	MCF-7	breast:
4	chr11:18389913..18393253-chr11:18414767..18417568,3	K562	blood:

Variant related genes	Relation type
ENSG00000134333	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	nsv523373	chr11:18382911-18401531	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
7	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:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18345000-18405000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:18361800-18391600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:18363200-18393000	Weak transcription	Fetal Heart	heart
4	chr11:18383800-18391400	Weak transcription	Colonic Mucosa	Colon
5	chr11:18385000-18392600	Weak transcription	Small Intestine	intestine
6	chr11:18387600-18391400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr11:18387600-18391400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:18387600-18391400	Weak transcription	Aorta	Aorta
9	chr11:18387600-18391400	Weak transcription	Right Ventricle	heart
10	chr11:18387600-18391600	Enhancers	Primary hematopoietic stem cells	blood
11	chr11:18387600-18393200	Weak transcription	Gastric	stomach
12	chr11:18387600-18394000	Weak transcription	Fetal Stomach	stomach
13	chr11:18387600-18395400	Weak transcription	Lung	lung
14	chr11:18387600-18398600	Weak transcription	Ovary	ovary
15	chr11:18387600-18404200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr11:18387600-18404400	Weak transcription	Esophagus	oesophagus
17	chr11:18387600-18404800	Weak transcription	Pancreas	Pancrea
18	chr11:18387800-18404400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr11:18388000-18405000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr11:18388200-18391600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr11:18388200-18392600	Weak transcription	Stomach Mucosa	stomach
22	chr11:18388200-18392600	Weak transcription	K562	blood
23	chr11:18388200-18393400	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr11:18388200-18395000	Weak transcription	NHLF	lung
25	chr11:18388400-18402600	Weak transcription	Hela-S3	cervix
26	chr11:18388600-18392800	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr11:18388600-18394400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr11:18388800-18392000	Weak transcription	Fetal Kidney	kidney
29	chr11:18388800-18393000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr11:18388800-18404400	Weak transcription	Brain Anterior Caudate	brain
31	chr11:18389000-18392000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr11:18389000-18393000	Weak transcription	Stomach Smooth Muscle	stomach
33	chr11:18389000-18393400	Weak transcription	Brain Germinal Matrix	brain
34	chr11:18389200-18391400	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr11:18389200-18391400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr11:18389200-18391400	Weak transcription	Brain Hippocampus Middle	brain
37	chr11:18389200-18391400	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr11:18389200-18391600	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr11:18389200-18391600	Weak transcription	HUVEC	blood vessel
40	chr11:18389200-18392400	Weak transcription	Colon Smooth Muscle	Colon
41	chr11:18389200-18392600	Weak transcription	Primary B cells from peripheral blood	blood
42	chr11:18389200-18392600	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr11:18389200-18392600	Weak transcription	Left Ventricle	heart
44	chr11:18389200-18392800	Weak transcription	HepG2	liver
45	chr11:18389200-18393000	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr11:18389200-18394400	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr11:18389200-18404600	Weak transcription	Thymus	Thymus
48	chr11:18389400-18391400	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr11:18389400-18391600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr11:18389400-18392400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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