Variant report

Variant	rs73817827
Chromosome Location	chr4:48614383-48614384
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:48610440..48612652-chr4:48613974..48616087,2	MCF-7	breast:

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10517225	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11727472	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12498166	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12505376	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12506770	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12508327	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12509766	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13110719	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13134960	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1565218	0.91[ASN][1000 genomes]
rs16861344	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16861347	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1702795	0.86[AMR][1000 genomes]
rs1702800	1.00[ASN][1000 genomes]
rs1712762	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17609740	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17609761	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17656189	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17656212	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17656255	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1814784	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1850520	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28581223	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2945331	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3107023	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4235156	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4610307	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4695388	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4695389	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55730515	0.91[ASN][1000 genomes]
rs55884608	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55986500	0.91[ASN][1000 genomes]
rs57893769	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6447646	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6447648	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6825104	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6852840	0.91[ASN][1000 genomes]
rs707719	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73814762	0.91[ASN][1000 genomes]
rs73814763	0.91[ASN][1000 genomes]
rs73814782	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73814798	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73817807	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73817808	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73817809	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73817826	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7690681	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7693468	0.91[ASN][1000 genomes]
rs7695730	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7695813	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs776582	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs776586	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs776593	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs776594	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs776596	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs776597	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs776598	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs776599	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs938790	0.89[AMR][1000 genomes];0.90[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	nsv829925	chr4:48467693-48639342	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1002674	chr4:48507608-49032909	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv537087	chr4:48507608-49032909	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv1010923	chr4:48575156-49083089	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv537088	chr4:48575156-49083089	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv966557	chr4:48577320-48618907	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv1013762	chr4:48580484-49032909	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv537089	chr4:48580484-49032909	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48515800-48625000	Weak transcription	Hela-S3	cervix
2	chr4:48545200-48618200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr4:48557800-48622400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr4:48562800-48623200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr4:48563000-48637400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr4:48575200-48643000	Weak transcription	HSMMtube	muscle
7	chr4:48578600-48637000	Weak transcription	Esophagus	oesophagus
8	chr4:48579600-48615800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr4:48588400-48644600	Weak transcription	Colon Smooth Muscle	Colon
10	chr4:48588800-48619600	Weak transcription	Rectal Smooth Muscle	rectum
11	chr4:48590600-48627600	Weak transcription	Fetal Brain Female	brain
12	chr4:48590800-48619600	Weak transcription	Fetal Stomach	stomach
13	chr4:48590800-48619600	Weak transcription	Lung	lung
14	chr4:48591000-48618600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr4:48591000-48619400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr4:48591200-48626600	Weak transcription	Ovary	ovary
17	chr4:48591400-48619600	Weak transcription	Fetal Muscle Leg	muscle
18	chr4:48591800-48619000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr4:48592200-48623200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr4:48592400-48620800	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr4:48592600-48619600	Weak transcription	Fetal Muscle Trunk	muscle
22	chr4:48594000-48619600	Weak transcription	Aorta	Aorta
23	chr4:48594000-48622600	Weak transcription	Psoas Muscle	Psoas
24	chr4:48594000-48637400	Weak transcription	Spleen	Spleen
25	chr4:48596800-48619000	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr4:48597000-48619400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr4:48597000-48620800	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr4:48597400-48619600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr4:48597600-48618600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr4:48597800-48614400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr4:48597800-48644600	Weak transcription	Stomach Smooth Muscle	stomach
32	chr4:48598000-48615400	Weak transcription	Fetal Thymus	thymus
33	chr4:48598000-48623000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr4:48598200-48634800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr4:48598600-48618800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr4:48598600-48619600	Weak transcription	GM12878-XiMat	blood
37	chr4:48598800-48619200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr4:48599400-48620400	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr4:48600600-48616000	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr4:48601000-48620800	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr4:48601800-48619800	Weak transcription	Placenta	Placenta
42	chr4:48602200-48619400	Weak transcription	Thymus	Thymus
43	chr4:48605000-48617800	Weak transcription	NHLF	lung
44	chr4:48605200-48615000	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr4:48605200-48615200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr4:48605200-48621400	Weak transcription	HMEC	breast
47	chr4:48605400-48618600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr4:48605400-48619800	Weak transcription	NH-A	brain
49	chr4:48605400-48622000	Weak transcription	Osteobl	bone
50	chr4:48605600-48620800	Weak transcription	NHDF-Ad	bronchial

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