Variant report

Variant	rs58116121
Chromosome Location	chr9:94018473-94018474
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:94016834..94019698-chr9:94185976..94188010,2	K562	blood:
2	chr9:94010195..94012758-chr9:94017416..94020227,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000165030	Chromatin interaction

Extended variants
information (count: 59 )
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	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56703453	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56878940	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56924073	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57231133	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57252569	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57417571	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57891613	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58154704	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58170057	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58543156	0.84[AFR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59049485	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59101284	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59183509	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59271728	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59300141	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59555429	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59752488	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59800170	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59849416	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60448531	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60709727	0.92[EUR][1000 genomes]
rs60833404	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60908817	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61330200	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61566702	1.00[EUR][1000 genomes]
rs61613297	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7031841	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7042607	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7043392	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7045388	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73497200	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73503277	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73503296	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73505203	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73505205	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73505206	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7849844	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7863280	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7866310	1.00[EUR][1000 genomes]
rs7870604	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7871207	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
3	esv3483144	chr9:94017686-94019815	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv3483145	chr9:94017686-94019815	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv19451	chr9:94017894-94019712	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:93982800-94032400	Weak transcription	Ovary	ovary
2	chr9:93983000-94027000	Weak transcription	Fetal Intestine Large	intestine
3	chr9:93983000-94054000	Weak transcription	Primary hematopoietic stem cells	blood
4	chr9:93983200-94027800	Weak transcription	Adipose Nuclei	Adipose
5	chr9:93984000-94052200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr9:93984000-94054600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr9:93984200-94024000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr9:93984400-94026200	Weak transcription	Primary T cells from cord blood	blood
9	chr9:93995800-94018600	Weak transcription	Fetal Intestine Small	intestine
10	chr9:93995800-94052400	Weak transcription	Fetal Stomach	stomach
11	chr9:94002800-94032600	Weak transcription	Placenta	Placenta
12	chr9:94004600-94051800	Weak transcription	Liver	Liver
13	chr9:94008400-94018600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr9:94008400-94018600	Weak transcription	Esophagus	oesophagus
15	chr9:94008600-94036200	Weak transcription	HSMM	muscle
16	chr9:94009400-94022400	Weak transcription	Fetal Brain Female	brain
17	chr9:94009600-94020400	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr9:94009800-94018600	Weak transcription	Lung	lung
19	chr9:94009800-94018600	Weak transcription	Pancreas	Pancrea
20	chr9:94009800-94018800	Weak transcription	Right Ventricle	heart
21	chr9:94010000-94021600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr9:94010000-94031600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr9:94011400-94055400	Weak transcription	Brain Cingulate Gyrus	brain
24	chr9:94011600-94018600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr9:94011600-94018600	Weak transcription	Right Atrium	heart
26	chr9:94011600-94019600	Weak transcription	Fetal Muscle Trunk	muscle
27	chr9:94013200-94018600	Weak transcription	Fetal Muscle Leg	muscle
28	chr9:94013600-94018800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr9:94014000-94018800	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr9:94015400-94020200	Enhancers	Fetal Heart	heart
31	chr9:94016000-94018600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr9:94016000-94025800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr9:94016000-94030400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr9:94016200-94018600	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr9:94016200-94018600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr9:94016400-94023800	Weak transcription	HepG2	liver
37	chr9:94016600-94018600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr9:94016600-94019000	Enhancers	Fetal Lung	lung
39	chr9:94016600-94026400	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr9:94016800-94018600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr9:94016800-94018600	Weak transcription	Fetal Thymus	thymus
42	chr9:94016800-94018600	Weak transcription	Left Ventricle	heart
43	chr9:94016800-94018600	Weak transcription	Psoas Muscle	Psoas
44	chr9:94016800-94019000	Enhancers	NHLF	lung
45	chr9:94017000-94019000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr9:94017000-94019000	Enhancers	NHDF-Ad	bronchial
47	chr9:94017200-94018600	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr9:94018400-94018600	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr9:94018400-94019000	Weak transcription	Aorta	Aorta

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