Variant report

Variant	rs11781102
Chromosome Location	chr8:58981280-58981281
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	GATA3	chr8:58980138-58981519	SK-N-SH	brain:	n/a	chr8:58980510-58980519 chr8:58980512-58980519 chr8:58980512-58980522 chr8:58980512-58980519 chr8:58980512-58980519 chr8:58980505-58980526
3	ARID3A	chr8:58980001-58981335	HepG2	liver:	n/a	chr8:58980592-58980608 chr8:58980591-58980607
4	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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:58948042..58950902-chr8:58979793..58982678,2	MCF-7	breast:
2	chr8:58964702..58966209-chr8:58978856..58981572,2	K562	blood:

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]
rs11781204	1.00[CEU][hapmap];1.00[CHB][hapmap];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];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12114432	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[YRI][hapmap];0.85[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];0.85[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];0.90[YRI][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	0.85[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]
rs7812600	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]
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];0.85[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];0.85[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:70 , 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	chr8:58971200-58982800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr8:58973600-58982600	Weak transcription	Spleen	Spleen
5	chr8:58975800-58982600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:58977600-58981400	Enhancers	Fetal Lung	lung
7	chr8:58978200-58981400	Enhancers	Liver	Liver
8	chr8:58978600-58982200	Enhancers	HepG2	liver
9	chr8:58978800-58982600	Enhancers	Fetal Brain Male	brain
10	chr8:58978800-58982600	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr8:58979000-58982000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr8:58979000-58982600	Enhancers	Fetal Brain Female	brain
13	chr8:58979200-58981400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr8:58979200-58982200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr8:58979400-58982200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr8:58979400-58999600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr8:58979600-58988600	Weak transcription	Lung	lung
18	chr8:58979800-58982600	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr8:58980200-58981800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr8:58980200-58982400	Weak transcription	Brain Angular Gyrus	brain
21	chr8:58980200-58982600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr8:58980200-58982600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr8:58980200-58982600	Weak transcription	Fetal Muscle Trunk	muscle
24	chr8:58980200-58982600	Weak transcription	Gastric	stomach
25	chr8:58980200-58982600	Weak transcription	Left Ventricle	heart
26	chr8:58980200-58982800	Weak transcription	Right Ventricle	heart
27	chr8:58980200-58984000	Weak transcription	Pancreas	Pancrea
28	chr8:58980200-58988800	Weak transcription	Placenta	Placenta
29	chr8:58980400-58991400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr8:58980400-58994400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr8:58980600-58982600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr8:58980600-58982600	Weak transcription	HSMMtube	muscle
33	chr8:58980600-58984000	Weak transcription	Stomach Mucosa	stomach
34	chr8:58980600-58988800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr8:58980600-58999600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr8:58980800-58981400	Enhancers	Muscle Satellite Cultured Cells	--
37	chr8:58980800-58981600	Weak transcription	Small Intestine	intestine
38	chr8:58980800-58981800	Weak transcription	Fetal Muscle Leg	muscle
39	chr8:58980800-58982200	Enhancers	Primary hematopoietic stem cells	blood
40	chr8:58980800-58982400	Weak transcription	Brain Germinal Matrix	brain
41	chr8:58980800-58982600	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr8:58980800-58982600	Weak transcription	Brain Anterior Caudate	brain
43	chr8:58980800-58982600	Weak transcription	Psoas Muscle	Psoas
44	chr8:58980800-58982600	Weak transcription	HSMM	muscle
45	chr8:58980800-58982800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr8:58980800-58983000	Weak transcription	Fetal Stomach	stomach
47	chr8:58980800-58984400	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr8:58980800-58989200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr8:58980800-58991600	Weak transcription	Osteobl	bone
50	chr8:58980800-58992000	Weak transcription	Fetal Intestine Small	intestine

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