Variant report

Variant	rs80135187
Chromosome Location	chr18:44685421-44685422
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:44675609..44678059-chr18:44682172..44686072,5	MCF-7	breast:
2	chr18:44675461..44681646-chr18:44682135..44691602,15	MCF-7	breast:
3	chr18:44674746..44679194-chr18:44680542..44685924,9	K562	blood:

Variant related genes	Relation type
ENSG00000167220	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv833640	chr18:44552276-44714872	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv909613	chr18:44644530-44690107	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	esv3412252	chr18:44684003-44711534	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44677600-44700200	Weak transcription	Aorta	Aorta
2	chr18:44677800-44685600	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr18:44677800-44686400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr18:44677800-44686600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr18:44677800-44686600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr18:44677800-44689800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr18:44677800-44693400	Weak transcription	Gastric	stomach
8	chr18:44677800-44698200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr18:44677800-44699000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr18:44677800-44700400	Weak transcription	Spleen	Spleen
11	chr18:44677800-44701000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr18:44677800-44701000	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr18:44677800-44701000	Weak transcription	A549	lung
14	chr18:44677800-44701800	Weak transcription	Esophagus	oesophagus
15	chr18:44678000-44687000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr18:44678000-44689200	Weak transcription	GM12878-XiMat	blood
17	chr18:44678000-44699600	Weak transcription	Colon Smooth Muscle	Colon
18	chr18:44678000-44700400	Weak transcription	Small Intestine	intestine
19	chr18:44678000-44700800	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr18:44678000-44701000	Weak transcription	Fetal Stomach	stomach
21	chr18:44678200-44685600	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr18:44678200-44689200	Weak transcription	NHEK	skin
23	chr18:44678200-44689800	Weak transcription	HSMMtube	muscle
24	chr18:44678200-44690800	Weak transcription	Fetal Intestine Small	intestine
25	chr18:44678200-44692400	Weak transcription	Thymus	Thymus
26	chr18:44678200-44692600	Weak transcription	NHLF	lung
27	chr18:44678200-44700200	Weak transcription	Brain Angular Gyrus	brain
28	chr18:44678200-44700800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr18:44678200-44701000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr18:44678200-44701200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr18:44678200-44701200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr18:44678400-44685800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr18:44678400-44689800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr18:44678400-44690000	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr18:44678400-44692200	Weak transcription	Right Ventricle	heart
36	chr18:44678400-44695400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr18:44678400-44700000	Weak transcription	Psoas Muscle	Psoas
38	chr18:44678400-44700800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr18:44678400-44700800	Weak transcription	Lung	lung
40	chr18:44678600-44691200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr18:44678600-44699000	Weak transcription	Dnd41	blood
42	chr18:44680800-44686400	Weak transcription	Fetal Lung	lung
43	chr18:44681200-44687600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr18:44681200-44689200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr18:44681200-44689600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr18:44681200-44689600	Weak transcription	Primary B cells from peripheral blood	blood
47	chr18:44681200-44689600	Weak transcription	HepG2	liver
48	chr18:44681200-44692200	Weak transcription	Ovary	ovary
49	chr18:44681200-44699000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr18:44681200-44699600	Weak transcription	Fetal Muscle Leg	muscle

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