Variant report

Variant	rs16907283
Chromosome Location	chr9:93973938-93973939
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	SRF	chr9:93973854-93973977	GM12878	blood:	n/a	n/a
2	ARID3A	chr9:93973638-93974128	HepG2	liver:	n/a	n/a
3	SRF	chr9:93973810-93974041	GM12878	blood:	n/a	n/a
4	POLR2A	chr9:93973900-93975995	HepG2	liver:	n/a	n/a

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

Variant related genes	Relation type
ENSG00000273381	TF binding region

Extended variants
information (count: 57 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10991804	0.92[EUR][1000 genomes]
rs10991805	0.92[EUR][1000 genomes]
rs10991806	0.92[EUR][1000 genomes]
rs10991817	1.00[EUR][1000 genomes]
rs10991818	1.00[EUR][1000 genomes]
rs10991821	1.00[CHB][hapmap];0.92[CHD][hapmap];0.89[JPT][hapmap];0.90[ASN][1000 genomes]
rs10991822	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10991830	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12236197	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12236200	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12236228	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16907285	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35278373	0.81[AFR][1000 genomes]
rs56673856	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56703453	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56878940	1.00[EUR][1000 genomes]
rs56924073	1.00[EUR][1000 genomes]
rs57231133	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57252569	1.00[EUR][1000 genomes]
rs57417571	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs57891613	1.00[EUR][1000 genomes]
rs58116121	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58154704	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58170057	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58543156	0.85[EUR][1000 genomes]
rs59049485	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59101284	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59183509	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs59271728	1.00[EUR][1000 genomes]
rs59300141	1.00[EUR][1000 genomes]
rs59555429	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59752488	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59800170	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59849416	1.00[EUR][1000 genomes]
rs60448531	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60709727	0.92[EUR][1000 genomes]
rs60833404	1.00[EUR][1000 genomes]
rs60908817	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61330200	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61566702	1.00[EUR][1000 genomes]
rs61613297	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7031841	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7042607	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7043392	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7045388	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73497200	1.00[EUR][1000 genomes]
rs73503277	1.00[EUR][1000 genomes]
rs73503296	1.00[EUR][1000 genomes]
rs73505203	1.00[EUR][1000 genomes]
rs73505205	1.00[EUR][1000 genomes]
rs73505206	1.00[EUR][1000 genomes]
rs7849844	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7863280	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7866310	1.00[EUR][1000 genomes]
rs7870604	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7871207	0.80[YRI][hapmap];1.00[AMR][1000 genomes];1.00[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: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	chr9:93969600-93974200	Enhancers	Pancreas	Pancrea
3	chr9:93969800-93976400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr9:93970200-93979200	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr9:93970200-93984000	Weak transcription	K562	blood
6	chr9:93970400-93976400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr9:93970400-94005400	Weak transcription	Aorta	Aorta
8	chr9:93970600-93976600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr9:93970800-93974400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr9:93970800-93974800	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr9:93970800-93974800	Weak transcription	Fetal Muscle Leg	muscle
12	chr9:93970800-93975400	Weak transcription	Brain Cingulate Gyrus	brain
13	chr9:93970800-93976200	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr9:93970800-93980800	Weak transcription	NHDF-Ad	bronchial
15	chr9:93970800-93981400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr9:93970800-93983600	Weak transcription	Brain Substantia Nigra	brain
17	chr9:93970800-93983800	Weak transcription	Brain Angular Gyrus	brain
18	chr9:93970800-93984200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr9:93970800-93985200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr9:93971000-93974400	Weak transcription	Rectal Smooth Muscle	rectum
21	chr9:93971000-93974400	Enhancers	HepG2	liver
22	chr9:93971000-93974400	Weak transcription	Osteobl	bone
23	chr9:93971000-93974800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr9:93971000-93975400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr9:93971000-93979800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr9:93971000-93980800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr9:93971000-93981000	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr9:93971000-93983200	Weak transcription	Colon Smooth Muscle	Colon
29	chr9:93971000-93984200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr9:93971000-94007800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr9:93971200-93974200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr9:93971200-93974400	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr9:93971200-93979800	Weak transcription	Primary T cells from cord blood	blood
34	chr9:93971200-93980800	Weak transcription	Stomach Smooth Muscle	stomach
35	chr9:93971200-93981200	Weak transcription	Thymus	Thymus
36	chr9:93971200-93982400	Weak transcription	Brain Hippocampus Middle	brain
37	chr9:93971200-93983800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr9:93971400-93974000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr9:93971400-93974200	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr9:93971400-93974400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr9:93971400-93975200	Weak transcription	Left Ventricle	heart
42	chr9:93971400-93979600	Weak transcription	Fetal Muscle Trunk	muscle
43	chr9:93971400-93979800	Weak transcription	Fetal Thymus	thymus
44	chr9:93971400-93980800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr9:93971400-93981200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr9:93971400-93981200	Weak transcription	Esophagus	oesophagus
47	chr9:93971400-93981200	Weak transcription	Lung	lung
48	chr9:93971400-93982400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr9:93971400-93982400	Weak transcription	Right Ventricle	heart
50	chr9:93971400-93982800	Weak transcription	Duodenum Smooth Muscle	Duodenum

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