Variant report

Variant	rs73964934
Chromosome Location	chr2:144952135-144952136
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:144942221..144944003-chr2:144951685..144953459,2	K562	blood:
2	chr2:144946214..144949112-chr2:144950562..144952419,2	MCF-7	breast:
3	chr2:144951160..144953736-chr2:144953951..144956370,2	MCF-7	breast:
4	chr2:144944038..144945840-chr2:144951915..144954875,2	K562	blood:
5	chr2:144952090..144954781-chr2:145087114..145090082,2	K562	blood:
6	chr2:144952090..144954069-chr2:145088582..145090968,2	K562	blood:

Variant related genes	Relation type
ENSG00000121964	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs55949025	0.88[AFR][1000 genomes]
rs57128369	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59033824	1.00[AMR][1000 genomes]
rs59467006	1.00[AMR][1000 genomes]
rs60960157	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73964930	1.00[AMR][1000 genomes]
rs73964933	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73964935	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73964936	0.96[AFR][1000 genomes]
rs73964937	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73964938	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73964939	1.00[AFR][1000 genomes];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:22 , 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	chr2:144928200-144965400	Weak transcription	Left Ventricle	heart
3	chr2:144931400-144973800	Weak transcription	Ovary	ovary
4	chr2:144932000-144960600	Weak transcription	HSMMtube	muscle
5	chr2:144932000-144965000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr2:144932200-144955400	Weak transcription	Fetal Muscle Leg	muscle
7	chr2:144937600-144955400	Weak transcription	Fetal Intestine Small	intestine
8	chr2:144940200-144955600	Weak transcription	HSMM	muscle
9	chr2:144941600-144964000	Weak transcription	Adipose Nuclei	Adipose
10	chr2:144941600-144965200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr2:144941800-144964800	Weak transcription	Primary B cells from cord blood	blood
12	chr2:144942000-144960800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr2:144942000-144965600	Weak transcription	Primary T cells from cord blood	blood
14	chr2:144948800-144955400	Weak transcription	Primary hematopoietic stem cells	blood
15	chr2:144948800-144973600	Weak transcription	Brain Cingulate Gyrus	brain
16	chr2:144951400-144953000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr2:144951800-144952200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr2:144951800-144952200	Enhancers	Brain Hippocampus Middle	brain
19	chr2:144951800-144952400	Enhancers	NHDF-Ad	bronchial
20	chr2:144951800-144952600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:144951800-144952800	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr2:144952000-144955800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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