Variant report

Variant	rs16922983
Chromosome Location	chr8:58980088-58980089
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	GATA3	chr8:58980032-58981545	SK-N-SH	brain:	n/a	chr8:58980510-58980519 chr8:58980512-58980519 chr8:58980512-58980522 chr8:58980512-58980519 chr8:58980512-58980519 chr8:58980505-58980526
2	TCF12	chr8:58980053-58980917	SK-N-SH	brain:	n/a	n/a
3	FOXA2	chr8:58979995-58980653	HepG2	liver:	n/a	chr8:58980482-58980494
4	SIN3AK20	chr8:58980013-58980841	MCF-7	breast:	n/a	n/a
5	SP1	chr8:58980086-58980558	HepG2	liver:	n/a	n/a
6	ARID3A	chr8:58980001-58981335	HepG2	liver:	n/a	chr8:58980592-58980608 chr8:58980591-58980607
7	NFIC	chr8:58980044-58980836	HepG2	liver:	n/a	n/a
8	FOSL2	chr8:58980075-58980534	HepG2	liver:	n/a	n/a
9	POLR2A	chr8:58980084-58980704	U87	brain:	n/a	n/a
10	RAD21	chr8:58980064-58980479	HepG2	liver:	n/a	n/a
11	FOXA1	chr8:58980055-58980720	HepG2	liver:	n/a	chr8:58980482-58980494
12	MYBL2	chr8:58979956-58980750	HepG2	liver:	n/a	n/a
13	FOXA1	chr8:58980073-58980763	HepG2	liver:	n/a	chr8:58980482-58980494
14	FOSL2	chr8:58980086-58980661	A549	lung:	n/a	n/a
15	FOSL2	chr8:58980062-58980698	HepG2	liver:	n/a	n/a
16	FOSL2	chr8:58980072-58980522	MCF-7	breast:	n/a	n/a
17	RCOR1	chr8:58980069-58981061	HepG2	liver:	n/a	n/a
18	GATA3	chr8:58980012-58981111	MCF-7	breast:	n/a	chr8:58980510-58980519 chr8:58980512-58980519 chr8:58980512-58980522 chr8:58980512-58980519 chr8:58980512-58980519 chr8:58980505-58980526
19	FOXA1	chr8:58979922-58981136	HepG2	liver:	n/a	chr8:58980482-58980494
20	HDAC2	chr8:58980052-58980621	HepG2	liver:	n/a	n/a
21	GATA3	chr8:58980031-58980849	A549	lung:	n/a	chr8:58980510-58980519 chr8:58980512-58980519 chr8:58980512-58980522 chr8:58980512-58980519 chr8:58980512-58980519 chr8:58980505-58980526
22	FOXA2	chr8:58979764-58980869	HepG2	liver:	n/a	chr8:58980482-58980494
23	CTCF	chr8:58980000-58980150	HCPEpiC	choroid plexus:	n/a	n/a
24	JUND	chr8:58980062-58980501	MCF-7	breast:	n/a	n/a
25	EP300	chr8:58980068-58980584	HepG2	liver:	n/a	n/a
26	JUND	chr8:58980080-58980586	HepG2	liver:	n/a	n/a
27	TEAD4	chr8:58980016-58981188	HepG2	liver:	n/a	n/a
28	EP300	chr8:58979986-58980737	HepG2	liver:	n/a	n/a
29	ZNF263	chr8:58979823-58980621	HEK293-T-REx	kidney:	n/a	n/a
30	KAP1	chr8:58979860-58980915	U2OS	brain:	n/a	n/a
31	TCF12	chr8:58979999-58980774	A549	lung:	n/a	n/a
32	TCF7L2	chr8:58979999-58981301	PANC-1	pancreas:	n/a	chr8:58981196-58981210 chr8:58980380-58980394 chr8:58981195-58981211 chr8:58980379-58980393 chr8:58981195-58981211 chr8:58980382-58980391 chr8:58981199-58981208
33	GATA3	chr8:58980082-58981010	MCF-7	breast:	n/a	chr8:58980510-58980519 chr8:58980512-58980519 chr8:58980512-58980522 chr8:58980512-58980519 chr8:58980512-58980519 chr8:58980505-58980526
34	MBD4	chr8:58980016-58980660	HepG2	liver:	n/a	n/a
35	HDAC2	chr8:58980048-58980656	HepG2	liver:	n/a	n/a
36	FOXA1	chr8:58980041-58980672	HepG2	liver:	n/a	chr8:58980482-58980494

No.	Distal block	Cell Line	Cell type
1	chr8:58972227..58973828-chr8:58977965..58980354,2	MCF-7	breast:
2	chr8:58973927..58975481-chr8:58979211..58981021,2	K562	blood:
3	chr8:58948042..58950902-chr8:58979793..58982678,2	MCF-7	breast:
4	chr8:58964702..58966209-chr8:58978856..58981572,2	K562	blood:
5	chr8:58979230..58980915-chr8:59145278..59146797,2	MCF-7	breast:

Variant related genes	Relation type
FAM110B	TF binding region

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10504240	1.00[JPT][hapmap]
rs10504241	1.00[JPT][hapmap]
rs1507081	1.00[JPT][hapmap]
rs16923020	1.00[JPT][hapmap]
rs16923023	1.00[JPT][hapmap]
rs16923066	1.00[JPT][hapmap]
rs16923074	1.00[JPT][hapmap]
rs16923080	1.00[JPT][hapmap]
rs28638177	1.00[EUR][1000 genomes]
rs55808340	1.00[EUR][1000 genomes]
rs56283627	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59980825	1.00[EUR][1000 genomes]
rs60729123	1.00[EUR][1000 genomes]
rs6471674	1.00[EUR][1000 genomes]
rs6471677	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6471678	1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6471679	1.00[JPT][hapmap]
rs7003864	1.00[EUR][1000 genomes]
rs73681724	1.00[EUR][1000 genomes]
rs73681726	1.00[EUR][1000 genomes]
rs73681728	1.00[EUR][1000 genomes]
rs73681729	1.00[EUR][1000 genomes]
rs73681746	1.00[EUR][1000 genomes]
rs73681748	1.00[EUR][1000 genomes]
rs73681749	1.00[EUR][1000 genomes]
rs73681772	1.00[EUR][1000 genomes]
rs7821907	0.81[YRI][hapmap]
rs7835069	0.85[YRI][hapmap];0.98[AFR][1000 genomes];1.00[EUR][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	nsv831324	chr8:58844151-59045309	Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv1803360	chr8:58976889-58986166	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:58935600-58988800	Weak transcription	Aorta	Aorta
2	chr8:58952200-58986400	Weak transcription	Adipose Nuclei	Adipose
3	chr8:58968800-58981000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr8:58971200-58982800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr8:58973600-58982600	Weak transcription	Spleen	Spleen
6	chr8:58975800-58982600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:58977200-58980400	Enhancers	Fetal Heart	heart
8	chr8:58977400-58981200	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr8:58977600-58980200	Enhancers	Fetal Kidney	kidney
10	chr8:58977600-58981400	Enhancers	Fetal Lung	lung
11	chr8:58978200-58981400	Enhancers	Liver	Liver
12	chr8:58978400-58980600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr8:58978400-58980800	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr8:58978400-58980800	Enhancers	Brain Germinal Matrix	brain
15	chr8:58978600-58980200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr8:58978600-58980400	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr8:58978600-58980400	Enhancers	Right Atrium	heart
18	chr8:58978600-58980600	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr8:58978600-58981200	Enhancers	Colon Smooth Muscle	Colon
20	chr8:58978600-58982200	Enhancers	HepG2	liver
21	chr8:58978800-58980200	Enhancers	Fetal Muscle Trunk	muscle
22	chr8:58978800-58980200	Enhancers	Gastric	stomach
23	chr8:58978800-58980200	Enhancers	Left Ventricle	heart
24	chr8:58978800-58980200	Enhancers	Right Ventricle	heart
25	chr8:58978800-58980800	Enhancers	Brain Anterior Caudate	brain
26	chr8:58978800-58981000	Enhancers	Brain Hippocampus Middle	brain
27	chr8:58978800-58981200	Enhancers	Duodenum Smooth Muscle	Duodenum
28	chr8:58978800-58982600	Enhancers	Fetal Brain Male	brain
29	chr8:58978800-58982600	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr8:58979000-58980200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
31	chr8:58979000-58980200	Enhancers	GM12878-XiMat	blood
32	chr8:58979000-58981000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr8:58979000-58981000	Enhancers	Stomach Smooth Muscle	stomach
34	chr8:58979000-58981200	Enhancers	NH-A	brain
35	chr8:58979000-58982000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr8:58979000-58982600	Enhancers	Fetal Brain Female	brain
37	chr8:58979200-58980600	Enhancers	Stomach Mucosa	stomach
38	chr8:58979200-58981200	Enhancers	Rectal Smooth Muscle	rectum
39	chr8:58979200-58981400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr8:58979200-58982200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr8:58979400-58980800	Enhancers	Fetal Muscle Leg	muscle
42	chr8:58979400-58980800	Enhancers	Osteobl	bone
43	chr8:58979400-58981200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr8:58979400-58982200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr8:58979400-58999600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr8:58979600-58980200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr8:58979600-58980400	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr8:58979600-58980600	Enhancers	HSMMtube	muscle
49	chr8:58979600-58980800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr8:58979600-58980800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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