Variant report

Variant	rs59049485
Chromosome Location	chr9:93986119-93986120
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rSNPs within LD-proxies of this variant (count:54)

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]
rs10991822	1.00[EUR][1000 genomes]
rs10991830	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12236197	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12236200	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12236228	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16907283	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16907285	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56673856	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56703453	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56878940	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56924073	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57231133	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57252569	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57417571	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57891613	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58116121	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58154704	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58170057	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58543156	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59101284	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59183509	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59271728	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59300141	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59555429	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59752488	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59800170	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59849416	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60448531	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60709727	0.92[EUR][1000 genomes]
rs60833404	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60908817	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61330200	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61566702	1.00[EUR][1000 genomes]
rs61613297	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7031841	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7042607	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7043392	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7045388	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73497200	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73503277	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73503296	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73505203	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73505205	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73505206	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7849844	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7863280	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7866310	1.00[EUR][1000 genomes]
rs7870604	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7871207	1.00[AMR][1000 genomes];1.00[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:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:93970400-94005400	Weak transcription	Aorta	Aorta
2	chr9:93971000-94007800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr9:93971400-94009400	Weak transcription	Spleen	Spleen
4	chr9:93971800-94008000	Weak transcription	Primary B cells from peripheral blood	blood
5	chr9:93972800-94009200	Weak transcription	Brain Germinal Matrix	brain
6	chr9:93973600-93995800	Weak transcription	Fetal Brain Female	brain
7	chr9:93975800-94005000	Weak transcription	Fetal Kidney	kidney
8	chr9:93976000-94002000	Weak transcription	Gastric	stomach
9	chr9:93979200-93995400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr9:93980200-93994400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr9:93980600-94007600	Weak transcription	Primary B cells from cord blood	blood
12	chr9:93981600-93986200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr9:93981600-94002000	Weak transcription	Pancreas	Pancrea
14	chr9:93981600-94004200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr9:93981600-94008000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr9:93981600-94008000	Weak transcription	Esophagus	oesophagus
17	chr9:93982600-94008200	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr9:93982800-93987000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr9:93982800-93987200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr9:93982800-94032400	Weak transcription	Ovary	ovary
21	chr9:93983000-93987000	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr9:93983000-94003000	Weak transcription	Right Ventricle	heart
23	chr9:93983000-94005600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr9:93983000-94008200	Weak transcription	Duodenum Mucosa	Duodenum
25	chr9:93983000-94009000	Weak transcription	Fetal Lung	lung
26	chr9:93983000-94027000	Weak transcription	Fetal Intestine Large	intestine
27	chr9:93983000-94054000	Weak transcription	Primary hematopoietic stem cells	blood
28	chr9:93983200-93987600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr9:93983200-93994000	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr9:93983200-94005400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr9:93983200-94015400	Weak transcription	Thymus	Thymus
32	chr9:93983200-94015800	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr9:93983200-94027800	Weak transcription	Adipose Nuclei	Adipose
34	chr9:93983800-94010800	Weak transcription	Stomach Smooth Muscle	stomach
35	chr9:93984000-94052200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr9:93984000-94054600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr9:93984200-93995400	Weak transcription	HepG2	liver
38	chr9:93984200-94024000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr9:93984400-94026200	Weak transcription	Primary T cells from cord blood	blood
40	chr9:93985800-93986200	Weak transcription	Fetal Muscle Leg	muscle

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