Variant report

Variant	rs147985658
Chromosome Location	chr18:44432422-44432423
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:44431175..44433784-chr18:44497358..44499614,2	K562	blood:

Variant related genes	Relation type
ENSG00000167216	Chromatin interaction
ENSG00000078043	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv9629	chr18:44264693-44757511	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	esv2763189	chr18:44415779-44515384	Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv833639	chr18:44426363-44552719	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	esv999328	chr18:44431002-44438662	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1059378	chr18:44431832-44509052	Strong transcription Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44381400-44433000	Weak transcription	Gastric	stomach
2	chr18:44382200-44437000	Weak transcription	Right Ventricle	heart
3	chr18:44391800-44448400	Weak transcription	Pancreas	Pancrea
4	chr18:44392600-44447800	Weak transcription	Esophagus	oesophagus
5	chr18:44393200-44433800	Weak transcription	Colonic Mucosa	Colon
6	chr18:44394400-44434000	Weak transcription	Fetal Kidney	kidney
7	chr18:44394800-44437800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr18:44397000-44441200	Weak transcription	Hela-S3	cervix
9	chr18:44399200-44434000	Weak transcription	Fetal Brain Female	brain
10	chr18:44399200-44457000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr18:44399600-44434400	Weak transcription	Fetal Intestine Small	intestine
12	chr18:44399600-44437600	Weak transcription	Small Intestine	intestine
13	chr18:44400000-44448200	Weak transcription	Spleen	Spleen
14	chr18:44401400-44436600	Weak transcription	Psoas Muscle	Psoas
15	chr18:44401400-44437600	Weak transcription	HMEC	breast
16	chr18:44402000-44440800	Weak transcription	A549	lung
17	chr18:44404000-44448000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr18:44405400-44443400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr18:44406000-44447200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr18:44406800-44433600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr18:44407400-44447800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr18:44407600-44453200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr18:44408000-44433800	Weak transcription	NH-A	brain
24	chr18:44408000-44438000	Weak transcription	Colon Smooth Muscle	Colon
25	chr18:44408200-44436800	Weak transcription	Brain Germinal Matrix	brain
26	chr18:44408400-44433800	Weak transcription	Osteobl	bone
27	chr18:44408600-44436800	Weak transcription	NHLF	lung
28	chr18:44408600-44448200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr18:44408800-44433800	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr18:44408800-44448200	Weak transcription	Lung	lung
31	chr18:44409200-44432600	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr18:44409200-44434000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr18:44409400-44432800	Weak transcription	Ovary	ovary
34	chr18:44409400-44433600	Weak transcription	Duodenum Mucosa	Duodenum
35	chr18:44409400-44437200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr18:44409400-44447400	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr18:44409600-44433800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr18:44409800-44432800	Weak transcription	Thymus	Thymus
39	chr18:44409800-44433800	Weak transcription	Left Ventricle	heart
40	chr18:44409800-44436400	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr18:44410000-44433800	Weak transcription	Fetal Lung	lung
42	chr18:44410000-44433800	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr18:44410000-44433800	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr18:44410000-44434800	Weak transcription	NHDF-Ad	bronchial
45	chr18:44410000-44437200	Weak transcription	Fetal Heart	heart
46	chr18:44414000-44448400	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr18:44414800-44432600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr18:44414800-44433800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr18:44415400-44433800	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr18:44415400-44437600	Weak transcription	HUVEC	blood vessel

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