Variant report

Variant	rs773506
Chromosome Location	chr9:93975471-93975472
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	POLR2A	chr9:93975197-93975483	H1-hESC	embryonic stem cell:	n/a	n/a
2	FOSL2	chr9:93974783-93975540	HepG2	liver:	n/a	n/a
3	POLR2A	chr9:93973900-93975995	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:93966984..93969661-chr9:93974166..93977145,2	K562	blood:
2	chr9:93972883..93975853-chr9:93985098..93987013,2	K562	blood:

Variant related genes	Relation type
ENSG00000273381	TF binding region

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1082054	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1397574	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1705269	0.86[AMR][1000 genomes]
rs1972090	0.88[CEU][hapmap]
rs2457714	0.83[EUR][1000 genomes]
rs2478963	0.88[AMR][1000 genomes]
rs2482338	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2482340	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2494386	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs298718	0.82[EUR][1000 genomes]
rs3884186	0.80[ASN][1000 genomes]
rs7036028	0.89[CHB][hapmap]
rs773509	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs773513	0.96[CEU][hapmap];0.94[CHB][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs773514	0.85[EUR][1000 genomes]
rs773515	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9299391	0.96[CEU][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9792456	0.80[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	nsv893570	chr9:93973938-94148084	Enhancers Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Type 2 diabetes nephropathy	21150874	GWAS catalog

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:93961200-93975600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr9:93969800-93976400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr9:93970200-93979200	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr9:93970200-93984000	Weak transcription	K562	blood
5	chr9:93970400-93976400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr9:93970400-94005400	Weak transcription	Aorta	Aorta
7	chr9:93970600-93976600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr9:93970800-93976200	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr9:93970800-93980800	Weak transcription	NHDF-Ad	bronchial
10	chr9:93970800-93981400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr9:93970800-93983600	Weak transcription	Brain Substantia Nigra	brain
12	chr9:93970800-93983800	Weak transcription	Brain Angular Gyrus	brain
13	chr9:93970800-93984200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr9:93970800-93985200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr9:93971000-93979800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr9:93971000-93980800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr9:93971000-93981000	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr9:93971000-93983200	Weak transcription	Colon Smooth Muscle	Colon
19	chr9:93971000-93984200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr9:93971000-94007800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr9:93971200-93979800	Weak transcription	Primary T cells from cord blood	blood
22	chr9:93971200-93980800	Weak transcription	Stomach Smooth Muscle	stomach
23	chr9:93971200-93981200	Weak transcription	Thymus	Thymus
24	chr9:93971200-93982400	Weak transcription	Brain Hippocampus Middle	brain
25	chr9:93971200-93983800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr9:93971400-93979600	Weak transcription	Fetal Muscle Trunk	muscle
27	chr9:93971400-93979800	Weak transcription	Fetal Thymus	thymus
28	chr9:93971400-93980800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr9:93971400-93981200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr9:93971400-93981200	Weak transcription	Esophagus	oesophagus
31	chr9:93971400-93981200	Weak transcription	Lung	lung
32	chr9:93971400-93982400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr9:93971400-93982400	Weak transcription	Right Ventricle	heart
34	chr9:93971400-93982800	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr9:93971400-93983800	Weak transcription	Dnd41	blood
36	chr9:93971400-93984200	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr9:93971400-93984400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr9:93971400-94009400	Weak transcription	Spleen	Spleen
39	chr9:93971600-93979800	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr9:93971600-93980600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr9:93971600-93981200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr9:93971600-93982400	Weak transcription	Right Atrium	heart
43	chr9:93971600-93982600	Weak transcription	Primary hematopoietic stem cells	blood
44	chr9:93971600-93983200	Weak transcription	Brain Anterior Caudate	brain
45	chr9:93971600-93983800	Weak transcription	Psoas Muscle	Psoas
46	chr9:93971800-93975600	Weak transcription	Primary B cells from cord blood	blood
47	chr9:93971800-93979600	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr9:93971800-94008000	Weak transcription	Primary B cells from peripheral blood	blood
49	chr9:93972800-93976000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr9:93972800-94009200	Weak transcription	Brain Germinal Matrix	brain

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