Variant report

Variant	rs73831454
Chromosome Location	chr3:47022561-47022562
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr3:47022324-47022562	GM12878	blood:	n/a	n/a
2	POLR2A	chr3:47022108-47022695	GM12878	blood:	n/a	n/a
3	POLR2A	chr3:47021713-47022639	MCF-7	breast:	n/a	n/a
4	POLR2A	chr3:47022558-47022633	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:47020574..47023054-chr3:47051075..47053218,2	MCF-7	breast:
2	chr3:47019689..47022693-chr3:47040941..47043835,3	MCF-7	breast:
3	chr3:47019697..47022640-chr3:47324324..47326151,2	K562	blood:
4	chr3:47022327..47024798-chr3:47034790..47037154,3	MCF-7	breast:

Variant related genes	Relation type
CCDC12	TF binding region
ENSG00000088727	Chromatin interaction
ENSG00000114648	Chromatin interaction
ENSG00000160796	Chromatin interaction
ENSG00000236409	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs55633581	1.00[AMR][1000 genomes]
rs55646108	1.00[AMR][1000 genomes]
rs55727789	1.00[AMR][1000 genomes]
rs55730344	1.00[AMR][1000 genomes]
rs55832326	1.00[AMR][1000 genomes]
rs56329054	1.00[AMR][1000 genomes]
rs57114752	1.00[AMR][1000 genomes]
rs57341796	1.00[AMR][1000 genomes]
rs58040348	1.00[AMR][1000 genomes]
rs58529346	1.00[AMR][1000 genomes]
rs58558054	1.00[AMR][1000 genomes]
rs58918862	1.00[AMR][1000 genomes]
rs59614145	1.00[AMR][1000 genomes]
rs59846120	1.00[AMR][1000 genomes]
rs60017851	1.00[AMR][1000 genomes]
rs60100816	1.00[AMR][1000 genomes]
rs60444519	1.00[AMR][1000 genomes]
rs73831409	1.00[AMR][1000 genomes]
rs73831411	1.00[AMR][1000 genomes]
rs73831412	1.00[AMR][1000 genomes]
rs73831414	1.00[AMR][1000 genomes]
rs73831415	1.00[AMR][1000 genomes]
rs73831421	1.00[AMR][1000 genomes]
rs73831424	1.00[AMR][1000 genomes]
rs73831425	1.00[AMR][1000 genomes]
rs73831428	1.00[AMR][1000 genomes]
rs73831430	1.00[AMR][1000 genomes]
rs73831431	1.00[AMR][1000 genomes]
rs73831432	1.00[AMR][1000 genomes]
rs73831444	1.00[AMR][1000 genomes]
rs73831445	1.00[AMR][1000 genomes]
rs73831446	1.00[AMR][1000 genomes]
rs73831448	1.00[AMR][1000 genomes]
rs73831449	1.00[AMR][1000 genomes]
rs73831450	1.00[AMR][1000 genomes]
rs73831451	1.00[AMR][1000 genomes]
rs73831453	1.00[AMR][1000 genomes]
rs73831455	1.00[AMR][1000 genomes]
rs73831457	1.00[AMR][1000 genomes]
rs73831458	1.00[AMR][1000 genomes]
rs73831459	1.00[AMR][1000 genomes]
rs73831466	1.00[AMR][1000 genomes]
rs73831467	1.00[AMR][1000 genomes]
rs73831468	1.00[AMR][1000 genomes]
rs73831469	1.00[AMR][1000 genomes]
rs73831471	1.00[AMR][1000 genomes]
rs73831472	1.00[AMR][1000 genomes]
rs73831474	1.00[AMR][1000 genomes]
rs73831477	1.00[AMR][1000 genomes]
rs73831479	1.00[AMR][1000 genomes]
rs73831480	1.00[AMR][1000 genomes]
rs73831481	1.00[AMR][1000 genomes]
rs73831483	1.00[AMR][1000 genomes]
rs73831485	1.00[AMR][1000 genomes]
rs73831488	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv536558	chr3:46706571-47024756	Enhancers Bivalent Enhancer Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	nsv876755	chr3:46895109-47061183	Genic enhancers Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	esv3461834	chr3:46977730-47173228	Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	esv3461835	chr3:46977822-47173168	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	esv3461836	chr3:46977822-47173168	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	nsv1009396	chr3:46994991-47048166	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv876756	chr3:47002931-47586514	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
8	esv1800172	chr3:47013346-47049306	Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
9	nsv590209	chr3:47018214-47050784	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
10	nsv876757	chr3:47018214-47058057	Active TSS Strong transcription Genic enhancers Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47020400-47022600	Flanking Active TSS	Primary hematopoietic stem cells	blood
2	chr3:47020400-47022600	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr3:47020600-47022600	Flanking Active TSS	HMEC	breast
4	chr3:47020600-47023800	Active TSS	Rectal Smooth Muscle	rectum
5	chr3:47021000-47022600	Enhancers	Fetal Heart	heart
6	chr3:47021000-47023000	Active TSS	Gastric	stomach
7	chr3:47021400-47022600	Flanking Active TSS	Stomach Smooth Muscle	stomach
8	chr3:47021400-47024200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr3:47021600-47022600	Flanking Active TSS	Primary T cells from cord blood	blood
10	chr3:47021600-47022600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
11	chr3:47021600-47022600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
12	chr3:47021600-47022600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
13	chr3:47021600-47022600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
14	chr3:47021600-47022600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
15	chr3:47021600-47022600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr3:47021600-47022600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr3:47021600-47022600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
18	chr3:47021600-47022600	Flanking Active TSS	Duodenum Mucosa	Duodenum
19	chr3:47021600-47022600	Flanking Active TSS	Fetal Thymus	thymus
20	chr3:47021600-47022600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
21	chr3:47021600-47022600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
22	chr3:47021600-47022600	Flanking Active TSS	Right Ventricle	heart
23	chr3:47021600-47022600	Flanking Active TSS	Dnd41	blood
24	chr3:47021600-47022600	Flanking Active TSS	GM12878-XiMat	blood
25	chr3:47021600-47022600	Flanking Active TSS	HUVEC	blood vessel
26	chr3:47021600-47022600	Flanking Active TSS	NHEK	skin
27	chr3:47021600-47023600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
28	chr3:47021600-47023800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
29	chr3:47021600-47023800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
30	chr3:47021600-47023800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
31	chr3:47021600-47023800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr3:47021600-47023800	Flanking Active TSS	Adipose Nuclei	Adipose
33	chr3:47021600-47024200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr3:47021600-47024600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
35	chr3:47021800-47022600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr3:47021800-47022600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
37	chr3:47021800-47022600	Flanking Active TSS	Colonic Mucosa	Colon
38	chr3:47021800-47022600	Flanking Active TSS	Pancreas	Pancrea
39	chr3:47021800-47023000	Weak transcription	Brain Hippocampus Middle	brain
40	chr3:47021800-47023200	Enhancers	Spleen	Spleen
41	chr3:47021800-47024400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
42	chr3:47021800-47028400	Weak transcription	Small Intestine	intestine
43	chr3:47021800-47036000	Weak transcription	Ovary	ovary
44	chr3:47022000-47022600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr3:47022000-47022600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
46	chr3:47022000-47022600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr3:47022000-47022600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
48	chr3:47022000-47022600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr3:47022000-47022600	Enhancers	Brain Angular Gyrus	brain
50	chr3:47022000-47022600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum

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