Variant report

Variant	rs150464061
Chromosome Location	chr18:43677150-43677151
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF384	chr18:43676613-43677321	K562	blood:	n/a	n/a
2	POLR2A	chr18:43676770-43678829	GM12878	blood:	n/a	n/a
3	MXI1	chr18:43677065-43678770	Hela-S3	cervix:	n/a	chr18:43678508-43678517 chr18:43678295-43678304 chr18:43677214-43677229 chr18:43678510-43678519
4	EP300	chr18:43677122-43677877	GM12878	blood:	n/a	chr18:43677475-43677485
5	SIN3AK20	chr18:43677032-43677217	PFSK-1	brain:	n/a	n/a
6	CTCF	chr18:43677040-43677190	AG10803	skin:	n/a	n/a
7	IKZF1	chr18:43676961-43677269	GM12878	blood:	n/a	n/a
8	POLR2A	chr18:43676731-43678297	GM12878	blood:	n/a	n/a
9	POLR2A	chr18:43676901-43679164	GM12891	blood:	n/a	n/a
10	YY1	chr18:43676789-43677235	GM12878	blood:	n/a	n/a
11	MXI1	chr18:43676984-43678732	GM12878	blood:	n/a	chr18:43678508-43678517 chr18:43678295-43678304 chr18:43677214-43677229 chr18:43678510-43678519
12	IRF1	chr18:43676976-43678919	K562	blood:	n/a	chr18:43678335-43678349
13	REST	chr18:43676907-43679095	H1-neurons	neurons:	n/a	chr18:43678043-43678056
14	HCFC1	chr18:43676574-43679241	Hela-S3	cervix:	n/a	n/a
15	MTA3	chr18:43676848-43678316	GM12878	blood:	n/a	n/a
16	POLR2A	chr18:43676923-43678950	HL-60	blood:	n/a	n/a
17	PML	chr18:43676798-43679024	GM12878	blood:	n/a	chr18:43677600-43677608 chr18:43677789-43677797
18	RELA	chr18:43677055-43678876	GM15510	blood:	n/a	n/a
19	POLR2A	chr18:43677025-43677167	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr18:43676946-43677339	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr18:43676587-43678866	GM12878	blood:	n/a	n/a
22	TBP	chr18:43677049-43677544	GM12878	blood:	n/a	n/a
23	CHD1	chr18:43677008-43678544	H1-hESC	embryonic stem cell:	n/a	n/a
24	EP300	chr18:43677098-43678279	GM12878	blood:	n/a	chr18:43677475-43677485
25	RCOR1	chr18:43677064-43677341	GM12878	blood:	n/a	n/a
26	POLR2A	chr18:43677012-43678855	PBDE	blood:	n/a	n/a
27	SIN3A	chr18:43676866-43678756	H1-hESC	embryonic stem cell:	n/a	chr18:43678508-43678517
28	POLR2A	chr18:43677003-43678999	K562	blood:	n/a	n/a
29	POLR2A	chr18:43676959-43679418	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chr18:43676760-43678671	K562	blood:	n/a	n/a
31	CHD1	chr18:43676895-43678212	GM12878	blood:	n/a	n/a
32	POLR2A	chr18:43677033-43678771	GM19099	blood:	n/a	n/a
33	POLR2A	chr18:43676970-43678869	HepG2	liver:	n/a	n/a
34	TBL1XR1	chr18:43676991-43678623	GM12878	blood:	n/a	n/a
35	POLR2A	chr18:43676931-43679062	GM18505	blood:	n/a	n/a
36	ZNF384	chr18:43676863-43677233	GM12878	blood:	n/a	n/a
37	MXI1	chr18:43676668-43679292	SK-N-SH	brain:	n/a	chr18:43678508-43678517 chr18:43678295-43678304 chr18:43677214-43677229 chr18:43678510-43678519

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

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

Variant related genes	Relation type
ATP5A1	TF binding region
ENSG00000152223	Chromatin interaction
ENSG00000152234	Chromatin interaction
ENSG00000152242	Chromatin interaction
ENSG00000152240	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 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	esv3316781	chr18:43676667-43677699	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	esv3316784	chr18:43676681-43677696	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	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
10	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	chr18:43670400-43677200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr18:43674600-43678800	Active TSS	Right Atrium	heart
3	chr18:43675400-43678600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr18:43675600-43678600	Active TSS	Hela-S3	cervix
5	chr18:43675800-43678600	Active TSS	GM12878-XiMat	blood
6	chr18:43676000-43677200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
7	chr18:43676000-43678600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr18:43676000-43678600	Active TSS	Left Ventricle	heart
9	chr18:43676000-43678800	Active TSS	Psoas Muscle	Psoas
10	chr18:43676000-43679000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr18:43676200-43678400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr18:43676200-43678600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr18:43676400-43677200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
14	chr18:43676400-43677200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
15	chr18:43676400-43677200	Flanking Active TSS	Brain Cingulate Gyrus	brain
16	chr18:43676400-43677400	Flanking Active TSS	Primary T cells from cord blood	blood
17	chr18:43676400-43677400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr18:43676400-43677600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr18:43676400-43677600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
20	chr18:43676400-43677800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
21	chr18:43676400-43677800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr18:43676400-43678000	Flanking Active TSS	Primary B cells from cord blood	blood
23	chr18:43676400-43678400	Active TSS	HSMM	muscle
24	chr18:43676400-43678600	Active TSS	HUES6 Cell Line	embryonic stem cell
25	chr18:43676400-43678600	Active TSS	iPS-18 Cell Line	embryonic stem cell
26	chr18:43676400-43678600	Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr18:43676400-43678600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr18:43676400-43678600	Active TSS	Fetal Intestine Large	intestine
29	chr18:43676400-43678800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr18:43676400-43678800	Active TSS	iPS-15b Cell Line	embryonic stem cell
31	chr18:43676400-43678800	Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr18:43676400-43678800	Active TSS	Pancreatic Islets	Pancreatic Islet
33	chr18:43676400-43678800	Active TSS	K562	blood
34	chr18:43676400-43679000	Active TSS	HUES64 Cell Line	embryonic stem cell
35	chr18:43676400-43679000	Active TSS	HSMMtube	muscle
36	chr18:43676400-43679200	Active TSS	ES-I3 Cell Line	embryonic stem cell
37	chr18:43676600-43677200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr18:43676600-43677200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
39	chr18:43676600-43677200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
40	chr18:43676600-43677200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
41	chr18:43676600-43677200	Flanking Active TSS	Liver	Liver
42	chr18:43676600-43677200	Flanking Active TSS	Fetal Lung	lung
43	chr18:43676600-43677200	Enhancers	Placenta Amnion	Placenta Amnion
44	chr18:43676600-43677200	Flanking Active TSS	HUVEC	blood vessel
45	chr18:43676600-43677400	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
46	chr18:43676600-43677600	Flanking Active TSS	Primary hematopoietic stem cells	blood
47	chr18:43676600-43677600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
48	chr18:43676600-43677600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr18:43676600-43677800	Flanking Active TSS	Adipose Nuclei	Adipose
50	chr18:43676600-43678200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood

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