Variant report

Variant	rs1876783
Chromosome Location	chr18:29524698-29524699
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	CEBPD	chr18:29524316-29524888	K562	blood:	n/a	n/a
2	CTCF	chr18:29524615-29524936	K562	blood:	n/a	n/a
3	MYC	chr18:29522286-29524727	K562	blood:	n/a	chr18:29523105-29523121 chr18:29523114-29523123
4	TAL1	chr18:29524036-29524730	K562	blood:	n/a	n/a
5	EP300	chr18:29524362-29524780	K562	blood:	n/a	n/a
6	ARID3A	chr18:29524025-29524906	K562	blood:	n/a	n/a
7	GATA3	chr18:29524436-29524800	SH-SY5Y	brain:	n/a	n/a
8	GATA1	chr18:29524441-29525084	PBDE	blood:	n/a	chr18:29524927-29524936
9	JUND	chr18:29524360-29524813	K562	blood:	n/a	n/a
10	MXI1	chr18:29521978-29525320	SK-N-SH	brain:	n/a	n/a
11	RCOR1	chr18:29524169-29524846	K562	blood:	n/a	n/a
12	GATA2	chr18:29524340-29524860	SH-SY5Y	brain:	n/a	n/a
13	JUN	chr18:29521820-29525062	K562	blood:	n/a	chr18:29524927-29524938 chr18:29524884-29524893 chr18:29523238-29523247 chr18:29523904-29523913 chr18:29523903-29523912 chr18:29524929-29524937
14	MAZ	chr18:29524433-29524789	K562	blood:	n/a	n/a
15	TEAD4	chr18:29524277-29524854	K562	blood:	n/a	n/a
16	TBL1XR1	chr18:29524144-29524788	K562	blood:	n/a	n/a
17	POLR2A	chr18:29522326-29524897	Raji	blood:	n/a	n/a
18	CCNT2	chr18:29524494-29524850	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr18:29523882..29525586-chr18:29646566..29649385,2	K562	blood:
2	chr18:29521939..29525237-chr18:29670716..29673913,4	MCF-7	breast:
3	chr18:29518719..29521005-chr18:29521192..29525426,5	MCF-7	breast:
4	chr18:29521618..29525019-chr18:29670361..29672184,4	MCF-7	breast:
5	chr18:29521537..29525393-chr18:29670839..29674328,7	K562	blood:
6	chr18:29520857..29524705-chr18:29670705..29674434,7	K562	blood:
7	chr18:29468408..29471507-chr18:29523062..29524905,3	K562	blood:
8	chr18:29523716..29526205-chr18:29536614..29539662,3	K562	blood:

Variant related genes	Relation type
TRAPPC8	TF binding region
ENSG00000265008	Chromatin interaction
ENSG00000153339	Chromatin interaction
ENSG00000134758	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1030405	1.00[AFR][1000 genomes]
rs16962529	1.00[AFR][1000 genomes]
rs4570943	1.00[AFR][1000 genomes]
rs476509	0.93[AFR][1000 genomes]
rs492777	1.00[AFR][1000 genomes]
rs520531	1.00[AFR][1000 genomes]
rs522046	1.00[AFR][1000 genomes]
rs551921	1.00[AFR][1000 genomes]
rs561556	0.93[AFR][1000 genomes]
rs574924	0.86[AFR][1000 genomes]
rs589558	1.00[AFR][1000 genomes]
rs595195	0.93[AFR][1000 genomes]
rs610869	1.00[AFR][1000 genomes]
rs6506949	1.00[AFR][1000 genomes]
rs651501	1.00[AFR][1000 genomes]
rs665765	1.00[AFR][1000 genomes]
rs670689	1.00[AFR][1000 genomes]
rs673202	1.00[AFR][1000 genomes]
rs7229729	1.00[AFR][1000 genomes]
rs8089228	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431975	chr18:29311034-29527902	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	nsv1067252	chr18:29475073-29583744	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29520200-29526800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr18:29521200-29524800	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr18:29521200-29524800	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr18:29521200-29525200	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr18:29521400-29525000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr18:29521400-29525400	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr18:29521600-29524800	Active TSS	H1 Cell Line	embryonic stem cell
8	chr18:29521600-29524800	Active TSS	HSMMtube	muscle
9	chr18:29521600-29525400	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr18:29522000-29524800	Active TSS	H9 Cell Line	embryonic stem cell
11	chr18:29522000-29524800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr18:29522000-29525000	Active TSS	HUES64 Cell Line	embryonic stem cell
13	chr18:29522000-29525000	Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr18:29522000-29525600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr18:29523400-29524800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
16	chr18:29523400-29524800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr18:29523400-29524800	Flanking Active TSS	Dnd41	blood
18	chr18:29523400-29525000	Flanking Active TSS	Primary hematopoietic stem cells	blood
19	chr18:29523600-29524800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr18:29524000-29524800	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr18:29524000-29524800	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr18:29524000-29524800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr18:29524000-29524800	Flanking Active TSS	Duodenum Mucosa	Duodenum
24	chr18:29524000-29524800	Flanking Active TSS	Hela-S3	cervix
25	chr18:29524000-29525000	Flanking Active TSS	K562	blood
26	chr18:29524200-29524800	Enhancers	Primary B cells from peripheral blood	blood
27	chr18:29524200-29524800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr18:29524200-29525000	Enhancers	Fetal Heart	heart
29	chr18:29524400-29524800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr18:29524400-29524800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr18:29524400-29524800	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr18:29524400-29524800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr18:29524400-29524800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr18:29524400-29524800	Enhancers	Fetal Thymus	thymus
35	chr18:29524400-29525000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr18:29524400-29525000	Enhancers	Primary B cells from cord blood	blood
37	chr18:29524400-29525000	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr18:29524400-29525200	Enhancers	Stomach Mucosa	stomach
39	chr18:29524400-29525200	Flanking Active TSS	GM12878-XiMat	blood
40	chr18:29524400-29525400	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr18:29524600-29524800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr18:29524600-29524800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr18:29524600-29524800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
44	chr18:29524600-29524800	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr18:29524600-29524800	Enhancers	Primary T cells from cord blood	blood
46	chr18:29524600-29524800	Enhancers	Primary T cells fromperipheralblood	blood
47	chr18:29524600-29524800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr18:29524600-29524800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr18:29524600-29524800	Enhancers	Brain Germinal Matrix	brain
50	chr18:29524600-29524800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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