Variant report

Variant	rs539977510
Chromosome Location	chr18:43677726-43677727
allele	A/C
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:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:43676160..43680812-chr18:43682051..43685941,8	K562	blood:
2	chr18:43677240..43681670-chr18:43684014..43685946,4	K562	blood:
3	chr18:43676858..43680433-chr18:43682158..43685518,5	MCF-7	breast:
4	chr18:43669948..43672641-chr18:43676747..43679041,2	K562	blood:
5	chr18:43545858..43548536-chr18:43676652..43678402,2	MCF-7	breast:
6	chr18:43676576..43678249-chr18:43751942..43754579,2	MCF-7	breast:
7	chr18:43671600..43674875-chr18:43675841..43678916,7	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HAUS1-1	chr18:43676293-43678434	NONHSAT059127

No data

Variant related genes	Relation type
ENSG00000152240	Chromatin interaction
ENSG00000152242	Chromatin interaction
ENSG00000152223	Chromatin interaction
ENSG00000152234	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064882	chr18:43558343-43687674	Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv543693	chr18:43558343-43687674	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1062024	chr18:43589516-43749410	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv543694	chr18:43589516-43749410	Strong transcription Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	esv3316783	chr18:43676573-43677767	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	esv3316782	chr18:43676588-43677807	Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv828222	chr18:43676776-43677727	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv828223	chr18:43676776-43677872	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr18:43674600-43678800	Active TSS	Right Atrium	heart
2	chr18:43675400-43678600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr18:43675600-43678600	Active TSS	Hela-S3	cervix
4	chr18:43675800-43678600	Active TSS	GM12878-XiMat	blood
5	chr18:43676000-43678600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr18:43676000-43678600	Active TSS	Left Ventricle	heart
7	chr18:43676000-43678800	Active TSS	Psoas Muscle	Psoas
8	chr18:43676000-43679000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr18:43676200-43678400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr18:43676200-43678600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr18:43676400-43677800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
12	chr18:43676400-43677800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr18:43676400-43678000	Flanking Active TSS	Primary B cells from cord blood	blood
14	chr18:43676400-43678400	Active TSS	HSMM	muscle
15	chr18:43676400-43678600	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr18:43676400-43678600	Active TSS	iPS-18 Cell Line	embryonic stem cell
17	chr18:43676400-43678600	Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr18:43676400-43678600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr18:43676400-43678600	Active TSS	Fetal Intestine Large	intestine
20	chr18:43676400-43678800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr18:43676400-43678800	Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr18:43676400-43678800	Active TSS	Breast Myoepithelial Primary Cells	Breast
23	chr18:43676400-43678800	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr18:43676400-43678800	Active TSS	K562	blood
25	chr18:43676400-43679000	Active TSS	HUES64 Cell Line	embryonic stem cell
26	chr18:43676400-43679000	Active TSS	HSMMtube	muscle
27	chr18:43676400-43679200	Active TSS	ES-I3 Cell Line	embryonic stem cell
28	chr18:43676600-43677800	Flanking Active TSS	Adipose Nuclei	Adipose
29	chr18:43676600-43678200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
30	chr18:43676600-43678200	Active TSS	Sigmoid Colon	Sigmoid Colon
31	chr18:43676600-43678400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr18:43676600-43678400	Active TSS	Rectal Mucosa Donor 31	rectum
33	chr18:43676600-43678400	Active TSS	Small Intestine	intestine
34	chr18:43676600-43678400	Active TSS	NH-A	brain
35	chr18:43676600-43678600	Active TSS	HUES48 Cell Line	embryonic stem cell
36	chr18:43676600-43678600	Active TSS	Primary T killer memory cells from peripheral blood	blood
37	chr18:43676600-43678600	Active TSS	Muscle Satellite Cultured Cells	--
38	chr18:43676600-43678600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr18:43676600-43678600	Active TSS	Brain Angular Gyrus	brain
40	chr18:43676600-43678600	Active TSS	Brain Anterior Caudate	brain
41	chr18:43676600-43678600	Active TSS	Brain Hippocampus Middle	brain
42	chr18:43676600-43678600	Active TSS	Colon Smooth Muscle	Colon
43	chr18:43676600-43678600	Active TSS	Duodenum Mucosa	Duodenum
44	chr18:43676600-43678600	Active TSS	Duodenum Smooth Muscle	Duodenum
45	chr18:43676600-43678600	Active TSS	Fetal Intestine Small	intestine
46	chr18:43676600-43678600	Active TSS	A549	lung
47	chr18:43676600-43678600	Active TSS	NHDF-Ad	bronchial
48	chr18:43676600-43678800	Active TSS	H9 Cell Line	embryonic stem cell
49	chr18:43676600-43678800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr18:43676600-43678800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell

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