Variant report

Variant	rs56309284
Chromosome Location	chr1:146770041-146770042
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	chr1:146763180..146767980-chr1:146768468..146771849,4	MCF-7	breast:

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs28381184	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28381211	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28381219	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55708393	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56042518	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56056005	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56809699	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59106316	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59189301	1.00[AMR][1000 genomes]
rs59878692	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61013701	1.00[AMR][1000 genomes]
rs61375001	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61560150	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61642695	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74119815	1.00[AMR][1000 genomes]
rs74119833	1.00[AMR][1000 genomes]
rs74119889	1.00[AMR][1000 genomes]
rs74121641	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74121846	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74121847	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74121848	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74121851	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74121878	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74121879	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74121880	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74121885	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74122341	1.00[AMR][1000 genomes]
rs74123522	1.00[AMR][1000 genomes]
rs74123628	1.00[AMR][1000 genomes]
rs74123825	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74123844	1.00[AMR][1000 genomes]
rs74123851	1.00[AMR][1000 genomes]
rs74123880	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv872251	chr1:146152553-146803630	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
2	nsv872252	chr1:146471863-147398135	Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	112 gene(s)	inside rSNPs	diseases
3	nsv999546	chr1:146507577-147356574	Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
4	nsv535123	chr1:146507577-147356574	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
5	nsv492188	chr1:146507649-147381479	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
6	nsv916754	chr1:146507711-147417736	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	113 gene(s)	inside rSNPs	diseases
7	nsv547673	chr1:146510112-147398135	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
8	nsv547674	chr1:146522722-147396797	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
9	nsv998341	chr1:146531446-147384720	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
10	nsv535124	chr1:146531446-147384720	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
11	nsv1003493	chr1:146531446-147389944	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
12	nsv998209	chr1:146543722-147384720	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
13	nsv535126	chr1:146543722-147384720	Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
14	nsv872255	chr1:146550780-146969712	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
15	nsv872256	chr1:146556596-147410973	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
16	nsv1012331	chr1:146603479-147384720	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
17	nsv535131	chr1:146603479-147384720	Genic enhancers Strong transcription Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
18	nsv1009943	chr1:146618929-146893851	Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
19	nsv535132	chr1:146618929-146893851	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
20	nsv437047	chr1:146643555-146841602	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
21	nsv1005809	chr1:146647822-146886419	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
22	nsv535134	chr1:146647822-146886419	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
23	nsv1004849	chr1:146661516-147286826	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
24	nsv535135	chr1:146661516-147286826	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS 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	44 gene(s)	inside rSNPs	diseases
25	nsv547676	chr1:146686228-146996047	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
26	esv2761654	chr1:146750270-146809156	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
27	nsv872260	chr1:146767353-146826675	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
28	nsv872261	chr1:146767353-146842342	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
29	nsv872262	chr1:146767353-146901677	Weak transcription Active TSS Strong transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:146727200-146770200	Strong transcription	Primary monocytes fromperipheralblood	blood
2	chr1:146728200-146770800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:146733000-146770600	Strong transcription	HepG2	liver
4	chr1:146736400-146770200	Strong transcription	Rectal Mucosa Donor 29	rectum
5	chr1:146755400-146770800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr1:146756400-146770400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr1:146759800-146770600	Weak transcription	Fetal Heart	heart
8	chr1:146761600-146771400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr1:146765000-146772600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr1:146765200-146770400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr1:146765400-146771400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr1:146765600-146770200	Weak transcription	Stomach Mucosa	stomach
13	chr1:146765600-146770400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr1:146765600-146771600	Weak transcription	Colonic Mucosa	Colon
15	chr1:146765800-146770400	Weak transcription	Fetal Brain Female	brain
16	chr1:146766000-146770200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
17	chr1:146766000-146777600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr1:146766600-146772000	Weak transcription	Fetal Brain Male	brain
19	chr1:146767200-146772000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
20	chr1:146767200-146772200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr1:146767400-146770400	Strong transcription	Thymus	Thymus
22	chr1:146767400-146772200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:146767600-146770200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr1:146767600-146770200	ZNF genes & repeats	A549	lung
25	chr1:146767600-146770400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
26	chr1:146767600-146772200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr1:146767800-146771000	ZNF genes & repeats	Liver	Liver
28	chr1:146767800-146771200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr1:146767800-146772200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
30	chr1:146767800-146772400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr1:146767800-146772400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
32	chr1:146767800-146774600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr1:146768200-146771000	ZNF genes & repeats	K562	blood
34	chr1:146768600-146770200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
35	chr1:146768600-146770200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr1:146768600-146771000	Weak transcription	Esophagus	oesophagus
37	chr1:146768600-146771000	Weak transcription	Lung	lung
38	chr1:146768600-146771200	Weak transcription	Placenta	Placenta
39	chr1:146768600-146771400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr1:146768600-146772200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr1:146768800-146770400	Weak transcription	Fetal Intestine Small	intestine
42	chr1:146768800-146770600	Weak transcription	Psoas Muscle	Psoas
43	chr1:146768800-146770800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr1:146768800-146771400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr1:146768800-146771600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr1:146768800-146772000	Weak transcription	Colon Smooth Muscle	Colon
47	chr1:146768800-146772000	Weak transcription	Right Ventricle	heart
48	chr1:146769000-146771200	Weak transcription	Fetal Intestine Large	intestine
49	chr1:146769000-146771600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr1:146769000-146771600	Weak transcription	Fetal Thymus	thymus

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