Variant report

Variant	rs73964931
Chromosome Location	chr2:144942903-144942904
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	chr2:144939747..144942028-chr2:144942409..144944936,2	K562	blood:
2	chr2:144942221..144944003-chr2:144951685..144953459,2	K562	blood:

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs12613814	0.84[AFR][1000 genomes]
rs1427310	0.87[AFR][1000 genomes]
rs55637225	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55915218	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56001970	1.00[AMR][1000 genomes]
rs56258437	1.00[AMR][1000 genomes]
rs56395361	0.87[AFR][1000 genomes]
rs56396630	1.00[AMR][1000 genomes]
rs57183340	1.00[AMR][1000 genomes]
rs57398691	1.00[AMR][1000 genomes]
rs57410426	1.00[AMR][1000 genomes]
rs57677579	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57783534	1.00[AMR][1000 genomes]
rs58722310	1.00[AMR][1000 genomes]
rs58738282	0.82[AFR][1000 genomes]
rs59033824	0.87[AFR][1000 genomes]
rs59290279	1.00[AMR][1000 genomes]
rs59430219	1.00[AMR][1000 genomes]
rs59467006	0.90[AFR][1000 genomes]
rs59505116	1.00[AMR][1000 genomes]
rs59687135	0.82[AFR][1000 genomes]
rs60225630	1.00[AMR][1000 genomes]
rs60644335	1.00[AMR][1000 genomes]
rs60696610	1.00[AMR][1000 genomes]
rs61639522	1.00[AMR][1000 genomes]
rs72854176	0.82[AFR][1000 genomes]
rs72854193	0.82[AFR][1000 genomes]
rs73962140	1.00[AMR][1000 genomes]
rs73962146	1.00[AMR][1000 genomes]
rs73962150	1.00[AMR][1000 genomes]
rs73962193	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73962196	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73964914	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73964919	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73964925	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73964930	0.84[AFR][1000 genomes]
rs73964932	1.00[AMR][1000 genomes]
rs73964942	1.00[AMR][1000 genomes]
rs73964945	1.00[AMR][1000 genomes]
rs73964947	1.00[AMR][1000 genomes]
rs73964949	1.00[AMR][1000 genomes]
rs73964951	1.00[AMR][1000 genomes]
rs73964952	1.00[AMR][1000 genomes]
rs73964953	1.00[AMR][1000 genomes]
rs73964955	1.00[AMR][1000 genomes]
rs73964957	1.00[AMR][1000 genomes]
rs73964962	1.00[AMR][1000 genomes]
rs73964964	1.00[AMR][1000 genomes]
rs73964965	1.00[AMR][1000 genomes]
rs73964969	1.00[AMR][1000 genomes]
rs73964970	1.00[AMR][1000 genomes]
rs73964972	1.00[AMR][1000 genomes]
rs73964973	1.00[AMR][1000 genomes]
rs73964974	1.00[AMR][1000 genomes]
rs73964975	1.00[AMR][1000 genomes]
rs73964977	1.00[AMR][1000 genomes]
rs73964979	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532755	chr2:144631279-145270874	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv1006344	chr2:144657716-145334899	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv535951	chr2:144657716-145334899	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1067624	chr2:144657717-145425705	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv531413	chr2:144657717-145425705	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv532756	chr2:144746353-145315596	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv1005376	chr2:144803630-144968946	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1013338	chr2:144806920-144969818	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv1008032	chr2:144840552-145234229	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
10	nsv834396	chr2:144842187-145019465	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv997624	chr2:144906679-145294503	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
12	nsv535952	chr2:144906679-145294503	Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
13	nsv532757	chr2:144922143-145263446	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:144923800-144955600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:144928000-144943400	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr2:144928200-144965400	Weak transcription	Left Ventricle	heart
4	chr2:144931200-144951800	Weak transcription	Brain Hippocampus Middle	brain
5	chr2:144931400-144973800	Weak transcription	Ovary	ovary
6	chr2:144931600-144944600	Weak transcription	Liver	Liver
7	chr2:144932000-144960600	Weak transcription	HSMMtube	muscle
8	chr2:144932000-144965000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr2:144932200-144955400	Weak transcription	Fetal Muscle Leg	muscle
10	chr2:144937600-144955400	Weak transcription	Fetal Intestine Small	intestine
11	chr2:144939200-144951800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr2:144940200-144955600	Weak transcription	HSMM	muscle
13	chr2:144940800-144944000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr2:144940800-144945200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr2:144941600-144964000	Weak transcription	Adipose Nuclei	Adipose
16	chr2:144941600-144965200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr2:144941800-144943400	Weak transcription	Primary B cells from peripheral blood	blood
18	chr2:144941800-144964800	Weak transcription	Primary B cells from cord blood	blood
19	chr2:144942000-144943200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr2:144942000-144943800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr2:144942000-144944000	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr2:144942000-144944000	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr2:144942000-144960800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr2:144942000-144965600	Weak transcription	Primary T cells from cord blood	blood
25	chr2:144942200-144943200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr2:144942200-144951800	Weak transcription	NHDF-Ad	bronchial
27	chr2:144942600-144943000	Enhancers	Fetal Heart	heart
28	chr2:144942800-144943600	Enhancers	Pancreatic Islets	Pancreatic Islet
29	chr2:144942800-144943800	Enhancers	Brain Substantia Nigra	brain

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