Variant report

Variant	rs73843121
Chromosome Location	chr3:53363909-53363910
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:53362816..53364414-chr3:53380178..53382166,2	K562	blood:
2	chr3:53362536..53364152-chr3:53381847..53383413,2	K562	blood:

Variant related genes	Relation type
ENSG00000162290	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs55739626	1.00[AMR][1000 genomes]
rs55797425	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56138740	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56403138	1.00[AMR][1000 genomes]
rs57085673	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57188310	1.00[AMR][1000 genomes]
rs57320366	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57530569	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58006923	1.00[AMR][1000 genomes]
rs58191586	1.00[AMR][1000 genomes]
rs58563464	1.00[AMR][1000 genomes]
rs58651265	1.00[AMR][1000 genomes]
rs60407612	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60891705	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72957562	1.00[AMR][1000 genomes]
rs73840109	1.00[AMR][1000 genomes]
rs73840110	1.00[AMR][1000 genomes]
rs73840113	1.00[AMR][1000 genomes]
rs73840218	1.00[AMR][1000 genomes]
rs73840219	1.00[AMR][1000 genomes]
rs73840220	1.00[AMR][1000 genomes]
rs73840224	1.00[AMR][1000 genomes]
rs73840228	1.00[AMR][1000 genomes]
rs73840236	1.00[AMR][1000 genomes]
rs73840239	1.00[AMR][1000 genomes]
rs73840247	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73840260	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73840281	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73840298	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73843106	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73843108	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73843110	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73843111	1.00[AMR][1000 genomes]
rs73843112	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73843113	1.00[AMR][1000 genomes]
rs73843115	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73843117	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73843118	1.00[AFR][1000 genomes]
rs73843120	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73843124	1.00[AMR][1000 genomes]
rs73843127	1.00[AMR][1000 genomes]
rs73843129	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73843130	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73843148	1.00[AMR][1000 genomes]
rs874586	1.00[AMR][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	nsv876801	chr3:53325905-53467506	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
2	nsv876802	chr3:53325905-53470863	Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:53326600-53364400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr3:53338000-53374000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr3:53338200-53380200	Weak transcription	Fetal Brain Male	brain
4	chr3:53338400-53367400	Weak transcription	Small Intestine	intestine
5	chr3:53344000-53364200	Weak transcription	Right Ventricle	heart
6	chr3:53346000-53373600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr3:53346200-53365200	Weak transcription	Fetal Kidney	kidney
8	chr3:53346200-53378600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr3:53346400-53365400	Weak transcription	Brain Angular Gyrus	brain
10	chr3:53346400-53367600	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr3:53346400-53370000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr3:53346600-53380600	Weak transcription	Spleen	Spleen
13	chr3:53347200-53371400	Weak transcription	HMEC	breast
14	chr3:53352200-53365400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr3:53352800-53380600	Weak transcription	Esophagus	oesophagus
16	chr3:53353000-53374600	Weak transcription	Fetal Brain Female	brain
17	chr3:53353000-53380600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr3:53353200-53365200	Weak transcription	HSMM	muscle
19	chr3:53353200-53365400	Weak transcription	NH-A	brain
20	chr3:53353400-53377000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr3:53353600-53365400	Weak transcription	NHDF-Ad	bronchial
22	chr3:53354000-53371400	Weak transcription	NHEK	skin
23	chr3:53354200-53365400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr3:53354200-53367200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr3:53354400-53365400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr3:53355200-53365200	Weak transcription	Primary B cells from peripheral blood	blood
27	chr3:53355400-53368000	Weak transcription	Hela-S3	cervix
28	chr3:53355400-53371600	Weak transcription	HSMMtube	muscle
29	chr3:53358200-53378800	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr3:53358400-53364200	Weak transcription	Left Ventricle	heart
31	chr3:53358400-53365400	Weak transcription	Brain Substantia Nigra	brain
32	chr3:53358400-53380600	Weak transcription	Lung	lung
33	chr3:53358600-53370200	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr3:53358600-53371600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr3:53358600-53372200	Weak transcription	Pancreas	Pancrea
36	chr3:53358800-53365400	Weak transcription	Fetal Lung	lung
37	chr3:53358800-53376200	Weak transcription	K562	blood
38	chr3:53360000-53372800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr3:53360000-53374000	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr3:53360200-53364000	Strong transcription	Primary T cells from cord blood	blood
41	chr3:53360200-53366600	Strong transcription	Liver	Liver
42	chr3:53360400-53376400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr3:53360600-53365400	Weak transcription	Osteobl	bone
44	chr3:53360600-53366000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr3:53360600-53380400	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr3:53360800-53365200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr3:53360800-53365400	Weak transcription	Stomach Smooth Muscle	stomach
48	chr3:53360800-53367600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr3:53360800-53375800	Weak transcription	Aorta	Aorta
50	chr3:53360800-53380600	Weak transcription	Gastric	stomach

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