Variant report

Variant	rs56302051
Chromosome Location	chr1:120519618-120519619
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:120515085..120518554-chr1:120518969..120522755,5	MCF-7	breast:
2	chr1:120514830..120518972-chr1:120519359..120523617,7	MCF-7	breast:
3	chr1:120517034..120520451-chr1:120523781..120527313,5	MCF-7	breast:
4	chr1:120519289..120523601-chr1:120528205..120531823,5	MCF-7	breast:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10127888	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10923931	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1493691	0.88[AFR][1000 genomes]
rs1493694	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1738647	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2027447	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2453040	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2453058	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2493389	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2493390	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2493391	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2493392	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2493394	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2493413	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2493415	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2641317	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2641348	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2641352	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2793829	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2793831	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2934381	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2934387	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3897478	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs406767	0.82[ASN][1000 genomes]
rs6668119	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6685892	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs699779	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72697237	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7515431	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7534585	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7534586	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs835575	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs835576	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428201	chr1:120267313-120697156	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv2757750	chr1:120267313-121226013	Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	esv2758965	chr1:120267313-121226013	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	esv1816057	chr1:120469050-120697156	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	esv1818054	chr1:120469050-120697156	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	esv1844863	chr1:120469050-120697156	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	esv1850218	chr1:120469050-120697156	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv427730	chr1:120469050-120697156	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS 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

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:120468600-120532800	Weak transcription	Stomach Mucosa	stomach
2	chr1:120490200-120521000	Strong transcription	Primary B cells from cord blood	blood
3	chr1:120491200-120538800	Weak transcription	Fetal Brain Male	brain
4	chr1:120508600-120529800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr1:120508800-120524600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:120509000-120533000	Weak transcription	Brain Cingulate Gyrus	brain
7	chr1:120509600-120520600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr1:120509600-120520600	Weak transcription	Right Ventricle	heart
9	chr1:120509800-120557600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr1:120510200-120519800	Weak transcription	Fetal Heart	heart
11	chr1:120510200-120529600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr1:120510200-120532800	Weak transcription	Brain Anterior Caudate	brain
13	chr1:120510200-120538800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr1:120510200-120552200	Weak transcription	HUVEC	blood vessel
15	chr1:120510400-120529800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr1:120510600-120527400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr1:120510600-120528400	Weak transcription	Hela-S3	cervix
18	chr1:120510800-120521000	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr1:120510800-120528600	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr1:120510800-120529400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr1:120510800-120532800	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr1:120510800-120533000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr1:120510800-120557400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr1:120511000-120523000	Weak transcription	Spleen	Spleen
25	chr1:120511200-120520800	Weak transcription	Ovary	ovary
26	chr1:120511200-120522400	Strong transcription	Primary B cells from peripheral blood	blood
27	chr1:120511200-120529400	Weak transcription	Left Ventricle	heart
28	chr1:120511600-120557800	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr1:120512200-120527400	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr1:120512400-120520800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr1:120512400-120521000	Weak transcription	Esophagus	oesophagus
32	chr1:120512400-120524200	Weak transcription	Rectal Smooth Muscle	rectum
33	chr1:120512400-120527000	Weak transcription	Placenta	Placenta
34	chr1:120512400-120527400	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr1:120512400-120543600	Weak transcription	Fetal Intestine Small	intestine
36	chr1:120512600-120528800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr1:120512600-120529200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr1:120512600-120529200	Weak transcription	Duodenum Mucosa	Duodenum
39	chr1:120512600-120532800	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr1:120514000-120520800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr1:120514000-120524000	Weak transcription	NH-A	brain
42	chr1:120514000-120524200	Weak transcription	Colon Smooth Muscle	Colon
43	chr1:120514000-120527200	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr1:120514400-120520600	Weak transcription	Lung	lung
45	chr1:120514400-120523600	Weak transcription	Aorta	Aorta
46	chr1:120514400-120524200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr1:120514400-120527200	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr1:120514400-120527200	Weak transcription	NHLF	lung
49	chr1:120514400-120527400	Weak transcription	Fetal Intestine Large	intestine
50	chr1:120514400-120529200	Weak transcription	Sigmoid Colon	Sigmoid Colon

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