Variant report

Variant	rs550487016
Chromosome Location	chr18:12727290-12727291
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:12725367..12727823-chr18:12887215..12889210,2	K562	blood:
2	chr18:12726771..12727633-chr18:12766775..12767717,3	MCF-7	breast:
3	chr18:12727153..12728721-chr18:12742306..12744471,2	K562	blood:
4	chr18:12726736..12727393-chr18:12846308..12846890,2	MCF-7	breast:
5	chr18:12726304..12729223-chr18:12948825..12951791,2	K562	blood:
6	chr18:12689725..12692648-chr18:12725870..12727791,2	K562	blood:
7	chr18:12726857..12727908-chr18:12766755..12767707,3	K562	blood:
8	chr18:12726793..12727997-chr18:12893494..12894384,4	K562	blood:
9	chr18:12726635..12727970-chr18:12934143..12935576,12	K562	blood:
10	chr18:12725757..12728002-chr18:12765870..12768020,2	K562	blood:
11	chr18:12726953..12727699-chr18:12934094..12935046,3	MCF-7	breast:
12	chr18:12720684..12722477-chr18:12725807..12728558,2	MCF-7	breast:

No data

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063125	chr18:12046892-12918251	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	130 gene(s)	inside rSNPs	diseases
2	nsv491873	chr18:12159445-12739784	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
3	esv3528039	chr18:12396582-12851293	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	esv3528041	chr18:12396641-12851245	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
5	nsv523743	chr18:12474505-12742809	Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	esv1817845	chr18:12635601-12733705	Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	esv1821625	chr18:12635601-12733705	Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
8	nsv1062014	chr18:12687210-13183383	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
9	nsv543655	chr18:12687210-13183383	Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
10	nsv1064273	chr18:12697601-12828251	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
11	nsv909405	chr18:12727224-12750499	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv909406	chr18:12727224-12761498	ZNF genes & repeats Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12704800-12727800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr18:12705000-12728600	Weak transcription	Stomach Mucosa	stomach
3	chr18:12714600-12728800	Weak transcription	Esophagus	oesophagus
4	chr18:12719000-12727800	Strong transcription	Sigmoid Colon	Sigmoid Colon
5	chr18:12720600-12727800	Strong transcription	HUVEC	blood vessel
6	chr18:12721800-12728200	Strong transcription	HSMM	muscle
7	chr18:12723000-12728600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr18:12723000-12748400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr18:12723200-12728600	Weak transcription	Aorta	Aorta
10	chr18:12723400-12728200	Weak transcription	Small Intestine	intestine
11	chr18:12723400-12728600	Weak transcription	Colon Smooth Muscle	Colon
12	chr18:12723600-12728400	Weak transcription	Rectal Smooth Muscle	rectum
13	chr18:12724200-12730000	Weak transcription	K562	blood
14	chr18:12724600-12728200	Weak transcription	Fetal Kidney	kidney
15	chr18:12724600-12728400	Weak transcription	Psoas Muscle	Psoas
16	chr18:12724600-12728600	Weak transcription	Ovary	ovary
17	chr18:12724600-12729600	Weak transcription	Fetal Brain Female	brain
18	chr18:12724600-12729800	Weak transcription	HSMMtube	muscle
19	chr18:12724800-12728000	Weak transcription	NHLF	lung
20	chr18:12725000-12727800	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr18:12725000-12728600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr18:12725200-12729600	Weak transcription	Brain Cingulate Gyrus	brain
23	chr18:12725200-12730200	Weak transcription	A549	lung
24	chr18:12725400-12728200	Weak transcription	Colonic Mucosa	Colon
25	chr18:12725400-12729000	Weak transcription	Primary hematopoietic stem cells	blood
26	chr18:12725600-12728000	Weak transcription	NHDF-Ad	bronchial
27	chr18:12725600-12728600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr18:12725600-12729400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr18:12725600-12729400	Weak transcription	HepG2	liver
30	chr18:12725800-12727400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr18:12725800-12727600	Strong transcription	Fetal Stomach	stomach
32	chr18:12725800-12728000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr18:12725800-12729800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr18:12725800-12729800	Weak transcription	Hela-S3	cervix
35	chr18:12726000-12727400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr18:12726000-12728000	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr18:12726000-12728800	Weak transcription	NH-A	brain
38	chr18:12726200-12728400	Weak transcription	Pancreas	Pancrea
39	chr18:12726200-12729400	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr18:12726200-12740400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr18:12726400-12727400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr18:12726600-12728200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr18:12726600-12728200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr18:12726600-12728200	Weak transcription	Liver	Liver
45	chr18:12726600-12735600	Weak transcription	Right Atrium	heart
46	chr18:12726800-12728400	Weak transcription	Fetal Intestine Large	intestine
47	chr18:12726800-12730200	Weak transcription	HMEC	breast
48	chr18:12727000-12727400	Genic enhancers	Dnd41	blood
49	chr18:12727000-12727400	Enhancers	Osteobl	bone
50	chr18:12727000-12728600	Weak transcription	Duodenum Smooth Muscle	Duodenum

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