Variant report

Variant	rs577554431
Chromosome Location	chr18:29264308-29264309
allele	A/C
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	YY1	chr18:29264252-29264611	GM12892	blood:	n/a	chr18:29264415-29264429
2	CHD2	chr18:29264220-29264858	GM12878	blood:	n/a	chr18:29264724-29264734
3	POLR2A	chr18:29263962-29266139	GM18951	blood:	n/a	n/a
4	CTCF	chr18:29264300-29264450	GM12875	blood:	n/a	n/a
5	MAX	chr18:29264066-29266173	GM12878	blood:	n/a	n/a
6	PML	chr18:29263917-29266204	GM12878	blood:	n/a	n/a
7	UBTF	chr18:29264238-29264495	K562	blood:	n/a	n/a
8	RUNX3	chr18:29264025-29264486	GM12878	blood:	n/a	n/a
9	SPI1	chr18:29264296-29264615	GM12878	blood:	n/a	chr18:29264390-29264397
10	CHD1	chr18:29263679-29264362	H1-hESC	embryonic stem cell:	n/a	n/a
11	REST	chr18:29263952-29264846	H1-neurons	neurons:	n/a	chr18:29264801-29264814 chr18:29264809-29264822
12	MXI1	chr18:29264065-29265493	GM12878	blood:	n/a	n/a
13	POLR2A	chr18:29264160-29266130	GM12878	blood:	n/a	n/a
14	RCOR1	chr18:29264172-29264852	GM12878	blood:	n/a	n/a
15	TAF1	chr18:29264234-29264616	H1-hESC	embryonic stem cell:	n/a	n/a
16	SIN3A	chr18:29263824-29266100	H1-hESC	embryonic stem cell:	n/a	chr18:29265439-29265452 chr18:29265145-29265158
17	POLR2A	chr18:29264143-29266339	GM18505	blood:	n/a	n/a
18	KAP1	chr18:29263693-29264491	HEK293	kidney:	n/a	n/a
19	STAT5A	chr18:29264152-29264631	GM12878	blood:	n/a	n/a
20	MAX	chr18:29264051-29266252	A549	lung:	n/a	n/a
21	POLR2A	chr18:29264087-29265019	H1-neurons	neurons:	n/a	n/a
22	POLR2A	chr18:29264009-29266286	GM12892	blood:	n/a	n/a
23	MAX	chr18:29264287-29264417	NB4	blood:	n/a	n/a
24	ZBTB7A	chr18:29264244-29265041	ECC-1	luminal epithelium:	n/a	n/a
25	POLR2A	chr18:29264187-29264422	GM12891	blood:	n/a	n/a
26	POLR2A	chr18:29263761-29266391	GM19099	blood:	n/a	n/a
27	POLR2A	chr18:29264157-29264470	GM12892	blood:	n/a	n/a
28	POLR2A	chr18:29263999-29266298	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr18:29264055-29264987	H1-neurons	neurons:	n/a	n/a
30	MAZ	chr18:29264223-29266189	GM12878	blood:	n/a	n/a
31	STAT1	chr18:29264032-29264526	GM12878	blood:	n/a	n/a
32	POLR2A	chr18:29264033-29266166	GM18526	blood:	n/a	n/a
33	POLR2A	chr18:29263965-29264348	MCF10A-Er-Src	breast:	n/a	n/a
34	POLR2A	chr18:29264301-29264564	GM12878	blood:	n/a	n/a
35	POLR2A	chr18:29264128-29266113	GM12892	blood:	n/a	n/a
36	POLR2A	chr18:29264132-29266174	H1-hESC	embryonic stem cell:	n/a	n/a
37	RCOR1	chr18:29264225-29264434	K562	blood:	n/a	n/a
38	ZNF263	chr18:29263898-29265483	HEK293-T-REx	kidney:	n/a	chr18:29264726-29264735 chr18:29264745-29264754
39	POLR2A	chr18:29263986-29264539	GM12878	blood:	n/a	n/a
40	SPI1	chr18:29264090-29264824	GM12878	blood:	n/a	chr18:29264390-29264397
41	WRNIP1	chr18:29263720-29264733	GM12878	blood:	n/a	n/a
42	CHD1	chr18:29263327-29264447	GM12878	blood:	n/a	n/a
43	POLR2A	chr18:29264251-29265812	HEK293	kidney:	n/a	n/a
44	MTA3	chr18:29263836-29264658	GM12878	blood:	n/a	n/a
45	POLR2A	chr18:29264212-29265535	MCF10A-Er-Src	breast:	n/a	n/a
46	POLR2A	chr18:29264111-29266224	GM19193	blood:	n/a	n/a
47	POLR2A	chr18:29263608-29266533	GM12878	blood:	n/a	n/a
48	POLR2A	chr18:29263972-29266236	GM12892	blood:	n/a	n/a
49	POLR2A	chr18:29264173-29266180	GM15510	blood:	n/a	n/a
50	POLR2A	chr18:29264072-29264996	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:29235239..29238459-chr18:29263541..29266170,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259985	TF binding region
ENSG00000118276	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv909519	chr18:29172865-29330214	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv1831348	chr18:29205526-29268786	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1059078	chr18:29225522-29454980	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv543675	chr18:29225522-29454980	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	esv3344706	chr18:29263704-29266352	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29259000-29264400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr18:29261600-29265600	Active TSS	GM12878-XiMat	blood
3	chr18:29262000-29266200	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr18:29262400-29265800	Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr18:29262600-29264400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr18:29262600-29266400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr18:29262800-29264400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr18:29262800-29265800	Active TSS	H1 Cell Line	embryonic stem cell
9	chr18:29262800-29265800	Active TSS	H9 Cell Line	embryonic stem cell
10	chr18:29262800-29265800	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr18:29263000-29264600	Flanking Active TSS	Dnd41	blood
12	chr18:29263000-29265600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr18:29263000-29265800	Active TSS	Psoas Muscle	Psoas
14	chr18:29263000-29266000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr18:29263000-29266400	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr18:29263200-29264400	Flanking Active TSS	HUVEC	blood vessel
17	chr18:29263200-29265600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr18:29263200-29265600	Active TSS	Primary T cells from cord blood	blood
19	chr18:29263200-29265600	Active TSS	Duodenum Mucosa	Duodenum
20	chr18:29263200-29265800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr18:29263200-29265800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr18:29263200-29266200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr18:29263200-29266200	Active TSS	Brain Angular Gyrus	brain
24	chr18:29263200-29266200	Active TSS	Brain Cingulate Gyrus	brain
25	chr18:29263200-29266400	Active TSS	Brain Anterior Caudate	brain
26	chr18:29263200-29266400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
27	chr18:29263400-29266200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr18:29263400-29266200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr18:29263600-29265600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr18:29263600-29265600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr18:29263600-29265800	Active TSS	Brain Inferior Temporal Lobe	brain
32	chr18:29263600-29265800	Active TSS	Right Atrium	heart
33	chr18:29263600-29266000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr18:29263600-29266200	Active TSS	iPS-15b Cell Line	embryonic stem cell
35	chr18:29263600-29266200	Active TSS	Colon Smooth Muscle	Colon
36	chr18:29263600-29266600	Active TSS	HUES64 Cell Line	embryonic stem cell
37	chr18:29263800-29264400	Active TSS	Primary B cells from cord blood	blood
38	chr18:29263800-29264400	Flanking Active TSS	Brain Hippocampus Middle	brain
39	chr18:29263800-29264400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
40	chr18:29263800-29264400	Flanking Active TSS	NH-A	brain
41	chr18:29263800-29264400	Flanking Active TSS	Osteobl	bone
42	chr18:29263800-29264600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
43	chr18:29263800-29265600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
44	chr18:29263800-29265600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr18:29263800-29265800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr18:29263800-29265800	Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr18:29263800-29265800	Active TSS	HMEC	breast
48	chr18:29263800-29265800	Active TSS	NHLF	lung
49	chr18:29263800-29266000	Active TSS	iPS-20b Cell Line	embryonic stem cell
50	chr18:29263800-29266000	Active TSS	A549	lung

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