Variant report

Variant	rs57417571
Chromosome Location	chr9:93984697-93984698
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	MXI1	chr9:93982421-93984804	IMR90	lung:	n/a	n/a

Variant related genes	Relation type
AUH	TF binding region

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10991817	0.83[EUR][1000 genomes]
rs10991818	0.83[EUR][1000 genomes]
rs10991822	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs10991830	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12236197	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12236200	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12236228	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs16907283	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs16907285	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56673856	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56703453	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56878940	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56924073	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57231133	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57252569	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57891613	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58116121	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58154704	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58170057	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58543156	0.97[ASN][1000 genomes]
rs59049485	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59101284	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59183509	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs59271728	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59300141	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59555429	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs59752488	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59800170	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59849416	0.81[AFR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60448531	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60833404	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60908817	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61330200	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs61566702	0.83[EUR][1000 genomes]
rs61613297	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7031841	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7042607	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7043392	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7045388	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73497200	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73503277	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73503296	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73505203	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73505205	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73505206	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7849844	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7863280	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7866310	0.83[EUR][1000 genomes]
rs7870604	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7871207	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[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	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
2	nsv482877	chr9:93979351-94157734	Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:93970400-94005400	Weak transcription	Aorta	Aorta
2	chr9:93970800-93985200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr9:93971000-94007800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr9:93971400-94009400	Weak transcription	Spleen	Spleen
5	chr9:93971800-94008000	Weak transcription	Primary B cells from peripheral blood	blood
6	chr9:93972800-94009200	Weak transcription	Brain Germinal Matrix	brain
7	chr9:93973600-93995800	Weak transcription	Fetal Brain Female	brain
8	chr9:93975400-93985000	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr9:93975800-94005000	Weak transcription	Fetal Kidney	kidney
10	chr9:93976000-94002000	Weak transcription	Gastric	stomach
11	chr9:93977400-93985400	Weak transcription	Hela-S3	cervix
12	chr9:93979200-93995400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr9:93980200-93994400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr9:93980400-93985400	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr9:93980600-94007600	Weak transcription	Primary B cells from cord blood	blood
16	chr9:93981600-93985400	Weak transcription	Lung	lung
17	chr9:93981600-93986200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr9:93981600-94002000	Weak transcription	Pancreas	Pancrea
19	chr9:93981600-94004200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr9:93981600-94008000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr9:93981600-94008000	Weak transcription	Esophagus	oesophagus
22	chr9:93982600-94008200	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr9:93982800-93985400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr9:93982800-93987000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr9:93982800-93987200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr9:93982800-94032400	Weak transcription	Ovary	ovary
27	chr9:93983000-93984800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr9:93983000-93985200	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr9:93983000-93987000	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr9:93983000-94003000	Weak transcription	Right Ventricle	heart
31	chr9:93983000-94005600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr9:93983000-94008200	Weak transcription	Duodenum Mucosa	Duodenum
33	chr9:93983000-94009000	Weak transcription	Fetal Lung	lung
34	chr9:93983000-94027000	Weak transcription	Fetal Intestine Large	intestine
35	chr9:93983000-94054000	Weak transcription	Primary hematopoietic stem cells	blood
36	chr9:93983200-93984800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr9:93983200-93984800	Weak transcription	Liver	Liver
38	chr9:93983200-93984800	Enhancers	Brain Cingulate Gyrus	brain
39	chr9:93983200-93985000	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr9:93983200-93985000	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr9:93983200-93985200	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr9:93983200-93985400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr9:93983200-93987600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr9:93983200-93994000	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr9:93983200-94005400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr9:93983200-94015400	Weak transcription	Thymus	Thymus
47	chr9:93983200-94015800	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr9:93983200-94027800	Weak transcription	Adipose Nuclei	Adipose
49	chr9:93983400-93984800	Enhancers	HSMMtube	muscle
50	chr9:93983400-93985200	Weak transcription	Fetal Muscle Leg	muscle

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