Variant report

Variant	rs1330823
Chromosome Location	chr9:85103465-85103466
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	EP300	chr9:85103230-85104556	SK-N-SH_RA	brain:	n/a	n/a
2	KAP1	chr9:85103299-85105594	HEK293	kidney:	n/a	chr9:85103955-85103963
3	ESR1	chr9:85103413-85104452	ECC-1	luminal epithelium:	n/a	n/a
4	TCF12	chr9:85103235-85104297	SK-N-SH	brain:	n/a	n/a
5	FOXA1	chr9:85103340-85103999	HepG2	liver:	n/a	n/a
6	FOXA1	chr9:85103448-85103982	HepG2	liver:	n/a	n/a
7	GATA3	chr9:85103336-85104281	SK-N-SH	brain:	n/a	chr9:85103670-85103680
8	TCF12	chr9:85103239-85104336	SK-N-SH	brain:	n/a	n/a
9	EP300	chr9:85103358-85104191	SK-N-SH	brain:	n/a	n/a
10	POLR2A	chr9:85103365-85104053	SK-N-SH	brain:	n/a	n/a
11	NFIC	chr9:85103459-85104276	SK-N-SH	brain:	n/a	n/a
12	GATA3	chr9:85103303-85104310	SK-N-SH	brain:	n/a	chr9:85103670-85103680
13	PBX3	chr9:85103381-85104215	SK-N-SH	brain:	n/a	chr9:85103632-85103641
14	EP300	chr9:85103207-85104044	SK-N-SH_RA	brain:	n/a	n/a
15	FOXA1	chr9:85103437-85103987	HepG2	liver:	n/a	n/a
16	PBX3	chr9:85103360-85104057	SK-N-SH	brain:	n/a	chr9:85103632-85103641
17	POLR2A	chr9:85103184-85104286	PFSK-1	brain:	n/a	n/a
18	ARID3A	chr9:85103424-85103941	HepG2	liver:	n/a	n/a
19	FOXA2	chr9:85103410-85104015	HepG2	liver:	n/a	n/a
20	FOXA1	chr9:85103317-85104122	HepG2	liver:	n/a	n/a
21	RAD21	chr9:85103302-85103681	SK-N-SH_RA	brain:	n/a	n/a
22	RAD21	chr9:85103363-85104155	SK-N-SH_RA	brain:	n/a	n/a

Variant related genes	Relation type
ENSG00000228430	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10120888	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10512129	0.91[ASN][1000 genomes]
rs11139582	0.91[ASN][1000 genomes]
rs11139583	0.91[ASN][1000 genomes]
rs1411664	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1411667	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2889950	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv893510	chr9:84954592-85117420	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:85102200-85105800	Enhancers	Fetal Lung	lung
2	chr9:85102800-85103600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr9:85102800-85103600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr9:85102800-85103600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr9:85102800-85103600	Enhancers	Rectal Smooth Muscle	rectum
6	chr9:85102800-85103600	Enhancers	Right Atrium	heart
7	chr9:85102800-85104000	Enhancers	Brain Cingulate Gyrus	brain
8	chr9:85102800-85104200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr9:85102800-85104200	Enhancers	Psoas Muscle	Psoas
10	chr9:85102800-85105000	Enhancers	Liver	Liver
11	chr9:85102800-85105000	Enhancers	Brain Anterior Caudate	brain
12	chr9:85102800-85105200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr9:85102800-85105200	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr9:85102800-85105200	Enhancers	HepG2	liver
15	chr9:85102800-85105400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr9:85102800-85105400	Enhancers	Brain Germinal Matrix	brain
17	chr9:85102800-85105600	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr9:85102800-85105600	Enhancers	Fetal Kidney	kidney
19	chr9:85102800-85105800	Enhancers	Adipose Nuclei	Adipose
20	chr9:85102800-85105800	Enhancers	Fetal Muscle Leg	muscle
21	chr9:85102800-85106200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr9:85103000-85103800	Enhancers	Duodenum Smooth Muscle	Duodenum
23	chr9:85103000-85104000	Enhancers	NHEK	skin
24	chr9:85103000-85104200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr9:85103000-85107000	Enhancers	Osteobl	bone
26	chr9:85103200-85103800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr9:85103200-85103800	Enhancers	HMEC	breast
28	chr9:85103200-85103800	Enhancers	NHLF	lung
29	chr9:85103200-85105000	Enhancers	Brain Hippocampus Middle	brain
30	chr9:85103200-85105000	Enhancers	NHDF-Ad	bronchial
31	chr9:85103200-85105200	Enhancers	Brain Angular Gyrus	brain
32	chr9:85103200-85105200	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr9:85103200-85105600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr9:85103200-85105600	Enhancers	Muscle Satellite Cultured Cells	--
35	chr9:85103200-85105600	Enhancers	Fetal Stomach	stomach
36	chr9:85103200-85105600	Enhancers	NH-A	brain
37	chr9:85103200-85106000	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr9:85103400-85103800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr9:85103400-85103800	Enhancers	Stomach Mucosa	stomach
40	chr9:85103400-85104000	Enhancers	Ovary	ovary
41	chr9:85103400-85104000	Enhancers	Stomach Smooth Muscle	stomach
42	chr9:85103400-85104200	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr9:85103400-85104400	Enhancers	Brain Substantia Nigra	brain
44	chr9:85103400-85105000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr9:85103400-85105200	Enhancers	Colon Smooth Muscle	Colon
46	chr9:85103400-85105400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr9:85103400-85105800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr9:85103400-85105800	Enhancers	Pancreas	Pancrea

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