Variant report

Variant	rs7812600
Chromosome Location	chr8:58979971-58979972
allele	C/T
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	MYBL2	chr8:58979956-58980750	HepG2	liver:	n/a	n/a
2	FOXA1	chr8:58979922-58981136	HepG2	liver:	n/a	chr8:58980482-58980494
3	FOXA2	chr8:58979764-58980869	HepG2	liver:	n/a	chr8:58980482-58980494
4	ZNF263	chr8:58979823-58980621	HEK293-T-REx	kidney:	n/a	n/a
5	KAP1	chr8:58979860-58980915	U2OS	brain:	n/a	n/a

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: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10089259	0.85[CEU][hapmap]
rs10110195	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10957030	1.00[CEU][hapmap];1.00[CHB][hapmap];0.80[YRI][hapmap];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1108188	0.85[CEU][hapmap]
rs11774174	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11781102	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11781204	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11997733	0.85[CEU][hapmap]
rs11998721	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[YRI][hapmap];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12114432	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16922937	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16922943	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16922946	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16923114	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs28508605	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56288562	1.00[ASN][1000 genomes]
rs57550641	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58595014	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59166085	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60139253	1.00[ASN][1000 genomes]
rs61521318	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6471679	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[EUR][1000 genomes]
rs6989882	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7000941	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7007800	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7015049	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73236447	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73236448	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73236451	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73236452	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73236455	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73236458	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73236461	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73236476	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73236481	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73236484	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73236488	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73236490	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73241723	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73682130	1.00[ASN][1000 genomes]
rs73682133	1.00[ASN][1000 genomes]
rs73682134	1.00[ASN][1000 genomes]
rs73682136	1.00[ASN][1000 genomes]
rs73682137	1.00[ASN][1000 genomes]
rs73682138	1.00[ASN][1000 genomes]
rs73682140	1.00[ASN][1000 genomes]
rs73682141	1.00[ASN][1000 genomes]
rs73682142	1.00[ASN][1000 genomes]
rs7813490	0.85[CEU][hapmap]
rs7816440	1.00[CHB][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7828423	0.85[CEU][hapmap]
rs7832353	0.85[CEU][hapmap]
rs884135	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs884136	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9694113	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9694139	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][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:72 , 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	chr8:58966600-58980000	Weak transcription	Ovary	ovary
4	chr8:58968800-58981000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr8:58971200-58982800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr8:58973600-58982600	Weak transcription	Spleen	Spleen
7	chr8:58975800-58982600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:58977200-58980400	Enhancers	Fetal Heart	heart
9	chr8:58977400-58981200	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr8:58977600-58980200	Enhancers	Fetal Kidney	kidney
11	chr8:58977600-58981400	Enhancers	Fetal Lung	lung
12	chr8:58978200-58981400	Enhancers	Liver	Liver
13	chr8:58978400-58980600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr8:58978400-58980800	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr8:58978400-58980800	Enhancers	Brain Germinal Matrix	brain
16	chr8:58978600-58980000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr8:58978600-58980200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr8:58978600-58980400	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr8:58978600-58980400	Enhancers	Right Atrium	heart
20	chr8:58978600-58980600	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr8:58978600-58981200	Enhancers	Colon Smooth Muscle	Colon
22	chr8:58978600-58982200	Enhancers	HepG2	liver
23	chr8:58978800-58980200	Enhancers	Fetal Muscle Trunk	muscle
24	chr8:58978800-58980200	Enhancers	Gastric	stomach
25	chr8:58978800-58980200	Enhancers	Left Ventricle	heart
26	chr8:58978800-58980200	Enhancers	Right Ventricle	heart
27	chr8:58978800-58980800	Enhancers	Brain Anterior Caudate	brain
28	chr8:58978800-58981000	Enhancers	Brain Hippocampus Middle	brain
29	chr8:58978800-58981200	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr8:58978800-58982600	Enhancers	Fetal Brain Male	brain
31	chr8:58978800-58982600	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr8:58979000-58980000	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr8:58979000-58980000	Weak transcription	Psoas Muscle	Psoas
34	chr8:58979000-58980200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr8:58979000-58980200	Enhancers	GM12878-XiMat	blood
36	chr8:58979000-58981000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr8:58979000-58981000	Enhancers	Stomach Smooth Muscle	stomach
38	chr8:58979000-58981200	Enhancers	NH-A	brain
39	chr8:58979000-58982000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr8:58979000-58982600	Enhancers	Fetal Brain Female	brain
41	chr8:58979200-58980600	Enhancers	Stomach Mucosa	stomach
42	chr8:58979200-58981200	Enhancers	Rectal Smooth Muscle	rectum
43	chr8:58979200-58981400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr8:58979200-58982200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr8:58979400-58980800	Enhancers	Fetal Muscle Leg	muscle
46	chr8:58979400-58980800	Enhancers	Osteobl	bone
47	chr8:58979400-58981200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr8:58979400-58982200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr8:58979400-58999600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr8:58979600-58980000	Weak transcription	Placenta	Placenta

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