Variant report

Variant	rs16907285
Chromosome Location	chr9:93977325-93977326
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	PBX3	chr9:93977178-93977491	SK-N-SH	brain:	n/a	n/a
2	PBX3	chr9:93977042-93977425	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:93970388..93972029-chr9:93976799..93979788,2	MCF-7	breast:
2	chr9:93956701..93958239-chr9:93975872..93977409,2	K562	blood:

Variant related genes	Relation type
ENSG00000273381	TF binding region

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10991804	0.84[EUR][1000 genomes]
rs10991805	0.84[EUR][1000 genomes]
rs10991806	0.84[EUR][1000 genomes]
rs10991817	0.92[EUR][1000 genomes]
rs10991818	0.92[EUR][1000 genomes]
rs10991821	0.92[CHB][hapmap];0.89[JPT][hapmap];0.90[ASN][1000 genomes]
rs10991822	0.93[AFR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10991830	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12236197	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12236200	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12236228	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16907283	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35278373	0.84[AFR][1000 genomes]
rs56673856	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56703453	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56878940	0.92[EUR][1000 genomes]
rs56924073	0.92[EUR][1000 genomes]
rs57231133	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs57252569	0.92[EUR][1000 genomes]
rs57417571	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57891613	0.92[EUR][1000 genomes]
rs58116121	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs58154704	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs58170057	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs59049485	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs59101284	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs59183509	1.00[AMR][1000 genomes]
rs59271728	0.92[EUR][1000 genomes]
rs59300141	0.92[EUR][1000 genomes]
rs59555429	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59752488	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs59800170	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs59849416	0.92[EUR][1000 genomes]
rs60448531	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs60709727	0.84[EUR][1000 genomes]
rs60833404	0.92[EUR][1000 genomes]
rs60908817	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61330200	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61566702	0.92[EUR][1000 genomes]
rs61613297	1.00[AMR][1000 genomes]
rs7031841	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7042607	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7043392	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7045388	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73497200	0.92[EUR][1000 genomes]
rs73503277	0.92[EUR][1000 genomes]
rs73503296	0.92[EUR][1000 genomes]
rs73505203	0.92[EUR][1000 genomes]
rs73505205	0.92[EUR][1000 genomes]
rs73505206	0.92[EUR][1000 genomes]
rs7849844	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7863280	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7866310	0.92[EUR][1000 genomes]
rs7870604	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7871207	1.00[AMR][1000 genomes];0.92[EUR][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

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:93970200-93979200	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr9:93970200-93984000	Weak transcription	K562	blood
3	chr9:93970400-94005400	Weak transcription	Aorta	Aorta
4	chr9:93970800-93980800	Weak transcription	NHDF-Ad	bronchial
5	chr9:93970800-93981400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr9:93970800-93983600	Weak transcription	Brain Substantia Nigra	brain
7	chr9:93970800-93983800	Weak transcription	Brain Angular Gyrus	brain
8	chr9:93970800-93984200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr9:93970800-93985200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr9:93971000-93979800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr9:93971000-93980800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr9:93971000-93981000	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr9:93971000-93983200	Weak transcription	Colon Smooth Muscle	Colon
14	chr9:93971000-93984200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr9:93971000-94007800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr9:93971200-93979800	Weak transcription	Primary T cells from cord blood	blood
17	chr9:93971200-93980800	Weak transcription	Stomach Smooth Muscle	stomach
18	chr9:93971200-93981200	Weak transcription	Thymus	Thymus
19	chr9:93971200-93982400	Weak transcription	Brain Hippocampus Middle	brain
20	chr9:93971200-93983800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr9:93971400-93979600	Weak transcription	Fetal Muscle Trunk	muscle
22	chr9:93971400-93979800	Weak transcription	Fetal Thymus	thymus
23	chr9:93971400-93980800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr9:93971400-93981200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr9:93971400-93981200	Weak transcription	Esophagus	oesophagus
26	chr9:93971400-93981200	Weak transcription	Lung	lung
27	chr9:93971400-93982400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr9:93971400-93982400	Weak transcription	Right Ventricle	heart
29	chr9:93971400-93982800	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr9:93971400-93983800	Weak transcription	Dnd41	blood
31	chr9:93971400-93984200	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr9:93971400-93984400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr9:93971400-94009400	Weak transcription	Spleen	Spleen
34	chr9:93971600-93979800	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr9:93971600-93980600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr9:93971600-93981200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr9:93971600-93982400	Weak transcription	Right Atrium	heart
38	chr9:93971600-93982600	Weak transcription	Primary hematopoietic stem cells	blood
39	chr9:93971600-93983200	Weak transcription	Brain Anterior Caudate	brain
40	chr9:93971600-93983800	Weak transcription	Psoas Muscle	Psoas
41	chr9:93971800-93979600	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr9:93971800-94008000	Weak transcription	Primary B cells from peripheral blood	blood
43	chr9:93972800-94009200	Weak transcription	Brain Germinal Matrix	brain
44	chr9:93973000-93979800	Weak transcription	Adipose Nuclei	Adipose
45	chr9:93973000-93984000	Weak transcription	Fetal Brain Male	brain
46	chr9:93973000-93984600	Weak transcription	Small Intestine	intestine
47	chr9:93973600-93982600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr9:93973600-93995800	Weak transcription	Fetal Brain Female	brain
49	chr9:93974600-93981200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr9:93974600-93982800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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