Variant report

Variant	rs73831430
Chromosome Location	chr3:47004273-47004274
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:46988088..46989870-chr3:47001912..47004802,2	MCF-7	breast:
2	chr3:47000539..47004616-chr3:47005854..47010349,8	K562	blood:
3	chr3:47000442..47004800-chr3:47015859..47022252,7	K562	blood:
4	chr3:47004144..47011042-chr3:47018115..47025018,10	MCF-7	breast:
5	chr3:47001947..47004283-chr3:47011185..47013637,2	MCF-7	breast:
6	chr3:47000243..47004408-chr3:47018008..47023852,10	MCF-7	breast:

Variant related genes	Relation type
ENSG00000160799	Chromatin interaction
ENSG00000160796	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	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55646108	1.00[AMR][1000 genomes]
rs55727789	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55730344	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55832326	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56329054	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57114752	1.00[AMR][1000 genomes]
rs57341796	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58040348	1.00[AMR][1000 genomes]
rs58529346	0.83[AFR][1000 genomes];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[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60444519	1.00[AMR][1000 genomes]
rs73831407	0.83[AFR][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	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831421	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831424	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831425	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831428	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831431	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831432	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831444	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831445	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831446	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831448	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831449	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831450	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831451	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831453	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831454	1.00[AMR][1000 genomes]
rs73831455	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831457	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831458	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831459	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831466	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831467	1.00[AFR][1000 genomes];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]

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	nsv915922	chr3:46768104-47009805	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	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
4	nsv3800	chr3:46961648-47007241	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1012682	chr3:46973552-47016357	Genic enhancers Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	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
7	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
8	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
9	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
10	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46985800-47004400	Enhancers	Primary T helper cells fromperipheralblood	blood
2	chr3:46990000-47006800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr3:46995800-47005200	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr3:46996000-47004600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr3:46996000-47004800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr3:46996000-47007200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr3:46996400-47005000	Genic enhancers	Primary B cells from peripheral blood	blood
8	chr3:46999200-47004400	Enhancers	Liver	Liver
9	chr3:46999800-47004800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr3:47000000-47004800	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr3:47000200-47004800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr3:47000400-47004800	Genic enhancers	HepG2	liver
13	chr3:47001800-47004800	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr3:47002200-47004800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
15	chr3:47002200-47006600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr3:47002200-47012000	Weak transcription	Osteobl	bone
17	chr3:47002400-47006800	Weak transcription	Small Intestine	intestine
18	chr3:47002400-47007400	Weak transcription	Colonic Mucosa	Colon
19	chr3:47002400-47012000	Weak transcription	NHLF	lung
20	chr3:47002400-47013200	Weak transcription	NH-A	brain
21	chr3:47002600-47004400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr3:47002800-47006600	Weak transcription	Fetal Brain Female	brain
23	chr3:47003000-47004800	Enhancers	HUVEC	blood vessel
24	chr3:47003000-47006600	Weak transcription	Placenta	Placenta
25	chr3:47003000-47006800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr3:47003000-47006800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr3:47003000-47006800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr3:47003000-47006800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr3:47003000-47006800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr3:47003000-47007000	Weak transcription	HSMMtube	muscle
31	chr3:47003000-47007200	Weak transcription	Hela-S3	cervix
32	chr3:47003000-47010400	Weak transcription	Aorta	Aorta
33	chr3:47003200-47004600	Weak transcription	Fetal Intestine Large	intestine
34	chr3:47003200-47005600	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr3:47003200-47006400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr3:47003200-47006400	Weak transcription	Fetal Intestine Small	intestine
37	chr3:47003200-47006400	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr3:47003200-47006600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr3:47003200-47006600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr3:47003200-47006600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr3:47003200-47006600	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr3:47003200-47006600	Weak transcription	Fetal Muscle Trunk	muscle
43	chr3:47003200-47006600	Weak transcription	Fetal Stomach	stomach
44	chr3:47003200-47006600	Weak transcription	Left Ventricle	heart
45	chr3:47003200-47006600	Weak transcription	Ovary	ovary
46	chr3:47003200-47006600	Weak transcription	Pancreas	Pancrea
47	chr3:47003200-47006600	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr3:47003200-47006600	Weak transcription	Spleen	Spleen
49	chr3:47003200-47006800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr3:47003200-47006800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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