Variant report

Variant	rs74117563
Chromosome Location	chr1:120487636-120487637
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:120485036..120488098-chr1:120488284..120491170,3	MCF-7	breast:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1043964	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10494233	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10494234	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1493693	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17024486	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17024487	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17024508	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17024519	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17024521	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17024536	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17024559	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17024564	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17024577	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17024584	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17024593	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17258606	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3795666	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56342935	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59024536	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74115387	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74115388	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74115390	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74115392	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74115396	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74115509	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74117505	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74117565	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74117567	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74117568	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74117570	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7412780	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7527186	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[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:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:120456200-120488000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr1:120468400-120495800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:120468400-120506200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:120468400-120507400	Weak transcription	Right Ventricle	heart
5	chr1:120468600-120496000	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr1:120468600-120532800	Weak transcription	Stomach Mucosa	stomach
7	chr1:120476400-120507400	Weak transcription	Brain Angular Gyrus	brain
8	chr1:120476800-120488800	Strong transcription	Primary B cells from cord blood	blood
9	chr1:120477000-120497200	Weak transcription	Small Intestine	intestine
10	chr1:120477400-120488000	Strong transcription	Primary B cells from peripheral blood	blood
11	chr1:120478800-120508800	Weak transcription	A549	lung
12	chr1:120478800-120511000	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr1:120479000-120511000	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr1:120479200-120490800	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr1:120479200-120491000	Weak transcription	Fetal Brain Male	brain
16	chr1:120479600-120493000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr1:120479600-120504000	Weak transcription	Brain Cingulate Gyrus	brain
18	chr1:120480400-120507800	Weak transcription	Fetal Brain Female	brain
19	chr1:120480600-120490000	Weak transcription	Brain Germinal Matrix	brain
20	chr1:120480600-120490800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr1:120480600-120490800	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr1:120480600-120490800	Weak transcription	HepG2	liver
23	chr1:120480600-120491000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:120480600-120492400	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr1:120480600-120492600	Weak transcription	HUVEC	blood vessel
26	chr1:120480600-120495000	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr1:120480600-120503600	Weak transcription	Brain Substantia Nigra	brain
28	chr1:120480600-120507400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr1:120480800-120488400	Weak transcription	Fetal Heart	heart
30	chr1:120482600-120490800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr1:120482600-120490800	Weak transcription	Hela-S3	cervix
32	chr1:120482800-120489800	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr1:120482800-120490800	Weak transcription	Fetal Thymus	thymus
34	chr1:120483200-120490000	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr1:120483400-120490200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr1:120483400-120490800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr1:120483400-120490800	Weak transcription	Fetal Intestine Small	intestine
38	chr1:120483400-120490800	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr1:120483400-120490800	Weak transcription	Stomach Smooth Muscle	stomach
40	chr1:120483400-120492600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr1:120483600-120488400	Weak transcription	Colon Smooth Muscle	Colon
42	chr1:120483600-120490000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr1:120483600-120490200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr1:120483600-120490400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr1:120483600-120491000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr1:120483600-120491000	Weak transcription	Colonic Mucosa	Colon
47	chr1:120483600-120492400	Weak transcription	Brain Hippocampus Middle	brain
48	chr1:120483600-120496000	Weak transcription	Brain Anterior Caudate	brain
49	chr1:120483800-120491000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr1:120484000-120491000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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