Variant report

Variant	rs558569863
Chromosome Location	chr18:21088424-21088425
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:21086304..21090723-chr18:21165251..21167811,3	MCF-7	breast:
2	chr18:21087453..21090115-chr18:21090407..21093336,2	K562	blood:
3	chr18:21069860..21072845-chr18:21087442..21089304,2	K562	blood:
4	chr18:21086417..21089145-chr18:21091032..21093812,2	MCF-7	breast:
5	chr18:21081696..21083968-chr18:21087930..21089731,2	MCF-7	breast:
6	chr18:21082338..21086201-chr18:21086505..21089611,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000141458	Chromatin interaction
ENSG00000141452	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34149	chr18:20858139-21221891	Bivalent Enhancer Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv431973	chr18:20861916-21118980	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv431974	chr18:20861916-21119291	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv909458	chr18:21003061-21171145	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv995053	chr18:21057147-21333688	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv576572	chr18:21087531-21171145	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:21084400-21097400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr18:21084400-21098600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr18:21084400-21099800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr18:21084400-21102000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr18:21084600-21100400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr18:21084800-21090600	Weak transcription	Fetal Brain Male	brain
7	chr18:21085000-21088600	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr18:21085000-21090200	Weak transcription	HMEC	breast
9	chr18:21085000-21090400	Weak transcription	Fetal Kidney	kidney
10	chr18:21085000-21099600	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr18:21085200-21091400	Strong transcription	Fetal Stomach	stomach
12	chr18:21085200-21092600	Strong transcription	Fetal Intestine Small	intestine
13	chr18:21085200-21098800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr18:21085400-21090400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr18:21085400-21091600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr18:21085400-21118800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr18:21085600-21088800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
18	chr18:21085600-21090400	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr18:21085600-21092200	Strong transcription	Fetal Thymus	thymus
20	chr18:21085600-21097400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr18:21085600-21101400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr18:21085600-21109600	Weak transcription	Fetal Heart	heart
23	chr18:21085600-21112200	Weak transcription	Right Atrium	heart
24	chr18:21085600-21119000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr18:21085800-21088800	Strong transcription	K562	blood
26	chr18:21085800-21089200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr18:21085800-21089600	Weak transcription	Colon Smooth Muscle	Colon
28	chr18:21085800-21090000	Weak transcription	Brain Germinal Matrix	brain
29	chr18:21085800-21090000	Weak transcription	Ovary	ovary
30	chr18:21085800-21090200	Weak transcription	Rectal Smooth Muscle	rectum
31	chr18:21085800-21090400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr18:21085800-21091000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr18:21085800-21091800	Strong transcription	Duodenum Mucosa	Duodenum
34	chr18:21085800-21094800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr18:21085800-21096000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr18:21085800-21098000	Weak transcription	Stomach Mucosa	stomach
37	chr18:21086000-21109400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr18:21086200-21089000	Strong transcription	NHEK	skin
39	chr18:21086200-21091200	Strong transcription	Osteobl	bone
40	chr18:21086200-21091800	Strong transcription	Cortex derived primary cultured neurospheres	brain
41	chr18:21086200-21093600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr18:21086200-21115400	Strong transcription	Fetal Muscle Leg	muscle
43	chr18:21086400-21088600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
44	chr18:21086400-21089000	Strong transcription	HSMM	muscle
45	chr18:21086400-21090600	Strong transcription	HUVEC	blood vessel
46	chr18:21086400-21091200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr18:21086400-21091200	Strong transcription	Fetal Intestine Large	intestine
48	chr18:21086400-21091200	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr18:21086400-21091400	Strong transcription	Primary monocytes fromperipheralblood	blood
50	chr18:21086400-21091400	Strong transcription	Rectal Mucosa Donor 31	rectum

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