Variant report

Variant	rs73831409
Chromosome Location	chr3:46972754-46972755
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:46968433..46974874-chr3:46985986..46991697,10	MCF-7	breast:
2	chr3:46967009..46980239-chr3:47015804..47024437,23	MCF-7	breast:
3	chr3:46972031..46974044-chr3:46975427..46977474,2	K562	blood:
4	chr3:46971685..46974752-chr3:47019618..47022746,3	MCF-7	breast:
5	chr3:46966739..46968792-chr3:46972024..46974475,2	K562	blood:
6	chr3:46971793..46974784-chr3:46975168..46977943,4	MCF-7	breast:
7	chr3:46733445..46736212-chr3:46971481..46974071,3	MCF-7	breast:
8	chr3:46970325..46973197-chr3:47005456..47008384,2	MCF-7	breast:
9	chr3:46970409..46973424-chr3:46974292..46976174,3	K562	blood:
10	chr3:46971047..46973675-chr3:47000415..47002568,2	MCF-7	breast:
11	chr3:46964095..46966597-chr3:46971583..46973644,2	K562	blood:
12	chr3:46965569..46968989-chr3:46970425..46974513,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000160799	Chromatin interaction
ENSG00000160796	Chromatin interaction
ENSG00000178038	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

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]
rs57341796	1.00[AMR][1000 genomes]
rs58040348	1.00[AMR][1000 genomes]
rs58529346	1.00[AMR][1000 genomes]
rs58918862	1.00[AMR][1000 genomes]
rs59614145	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59846120	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60017851	1.00[AMR][1000 genomes]
rs60100816	1.00[AMR][1000 genomes]
rs73831411	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831412	1.00[AMR][1000 genomes]
rs73831414	0.85[AFR][1000 genomes];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]
rs73831454	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]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007449	chr3:46652343-46986578	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv536554	chr3:46652343-46986578	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	nsv460526	chr3:46935527-47001350	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	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

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46964600-46975600	Weak transcription	Fetal Brain Male	brain
2	chr3:46964800-46972800	Enhancers	Fetal Heart	heart
3	chr3:46967400-46974600	Enhancers	HSMMtube	muscle
4	chr3:46967400-46975800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr3:46967400-46976000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr3:46967400-46976400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr3:46967400-46984400	Genic enhancers	Fetal Intestine Small	intestine
8	chr3:46967800-46976400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr3:46968000-46978800	Enhancers	Stomach Mucosa	stomach
10	chr3:46968400-46975800	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr3:46968400-46976600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr3:46968400-46977600	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr3:46968600-46975400	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr3:46969200-46972800	Weak transcription	NHEK	skin
15	chr3:46969200-46976600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr3:46969200-46976600	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr3:46969400-46973000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr3:46969400-46973800	Enhancers	Primary B cells from peripheral blood	blood
19	chr3:46969400-46974400	Enhancers	Colonic Mucosa	Colon
20	chr3:46969400-46978400	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr3:46969600-46977400	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr3:46970000-46972800	Weak transcription	Brain Germinal Matrix	brain
23	chr3:46970200-46973000	Enhancers	Brain Anterior Caudate	brain
24	chr3:46970200-46973400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr3:46970200-46973400	Enhancers	Brain Cingulate Gyrus	brain
26	chr3:46970200-46976800	Enhancers	Brain Hippocampus Middle	brain
27	chr3:46970200-46978600	Enhancers	Right Ventricle	heart
28	chr3:46970400-46973600	Weak transcription	Fetal Brain Female	brain
29	chr3:46970400-46976400	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr3:46970400-46977600	Enhancers	Liver	Liver
31	chr3:46970400-46977800	Enhancers	Pancreas	Pancrea
32	chr3:46970600-46973200	Enhancers	Rectal Mucosa Donor 29	rectum
33	chr3:46970600-46975000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr3:46970600-46975200	Enhancers	Primary hematopoietic stem cells	blood
35	chr3:46970600-46977600	Enhancers	Brain Angular Gyrus	brain
36	chr3:46970800-46974200	Enhancers	Aorta	Aorta
37	chr3:46970800-46975800	Enhancers	Sigmoid Colon	Sigmoid Colon
38	chr3:46970800-46976200	Enhancers	Spleen	Spleen
39	chr3:46970800-46977400	Enhancers	Placenta	Placenta
40	chr3:46970800-46977600	Enhancers	Left Ventricle	heart
41	chr3:46970800-46977600	Enhancers	Lung	lung
42	chr3:46970800-46977800	Enhancers	NHDF-Ad	bronchial
43	chr3:46970800-46979400	Enhancers	HUVEC	blood vessel
44	chr3:46970800-46984200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr3:46971000-46973000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr3:46971000-46973400	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr3:46971000-46974200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr3:46971000-46975800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr3:46971000-46976000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
50	chr3:46971200-46972800	Enhancers	Primary B cells from cord blood	blood

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