Variant report

Variant	rs141450
Chromosome Location	chr7:127452420-127452421
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:127447814..127450156-chr7:127451713..127454523,2	MCF-7	breast:
2	chr7:127445981..127447616-chr7:127451631..127453502,2	K562	blood:
3	chr7:127448367..127450506-chr7:127451925..127454974,3	K562	blood:

Extended variants
information (count: 99 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:93)

rs_ID	r²[population]
rs10215276	0.89[ASN][1000 genomes]
rs10251423	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10251548	0.97[EUR][1000 genomes]
rs10255861	0.85[ASN][1000 genomes]
rs10260037	0.89[ASN][1000 genomes]
rs1029927	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1075206	0.81[ASN][1000 genomes]
rs10954163	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11521053	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11971935	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11972774	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11976841	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11976946	0.96[CEU][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11977012	0.85[ASN][1000 genomes]
rs11977915	0.85[ASN][1000 genomes]
rs11980318	0.85[ASN][1000 genomes]
rs12531440	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12533846	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12539728	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12540865	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13236900	0.96[CEU][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13237048	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1362268	0.87[ASN][1000 genomes]
rs1419969	0.83[ASN][1000 genomes]
rs16885524	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17151241	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17151270	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17716738	0.85[ASN][1000 genomes]
rs17718395	0.96[ASN][1000 genomes]
rs1860934	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1881084	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2014583	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2016786	0.95[EUR][1000 genomes]
rs2043982	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2119452	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2119453	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2141259	0.96[CEU][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2402866	0.96[CEU][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2402867	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2402870	0.95[EUR][1000 genomes]
rs325440	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs325442	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs325444	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs325445	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs325446	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs325447	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs325451	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35121681	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35176520	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35940771	0.95[EUR][1000 genomes]
rs35971861	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3779529	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3779530	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3808087	0.83[ASN][1000 genomes]
rs3808092	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3808093	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3808095	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3808097	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3808105	0.85[ASN][1000 genomes]
rs3808106	0.96[CEU][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3808107	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3808112	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3824000	0.89[ASN][1000 genomes]
rs4728077	0.85[ASN][1000 genomes]
rs4731376	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4731378	0.95[EUR][1000 genomes]
rs55694225	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56306023	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58583807	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6467145	0.95[EUR][1000 genomes]
rs6961381	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6963455	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6968199	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6969880	0.99[EUR][1000 genomes]
rs712712	0.88[EUR][1000 genomes]
rs712716	0.96[CEU][hapmap];0.90[EUR][1000 genomes]
rs73234861	0.85[ASN][1000 genomes]
rs73234862	0.85[ASN][1000 genomes]
rs73234880	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73234882	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73234897	0.96[ASN][1000 genomes]
rs73234901	0.83[ASN][1000 genomes]
rs741599	0.96[CEU][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs759843	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7785050	0.99[EUR][1000 genomes]
rs7786041	0.89[ASN][1000 genomes]
rs7797663	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7799882	0.95[EUR][1000 genomes]
rs917832	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs918793	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs972088	0.88[CEU][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs972089	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs972090	0.96[CEU][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1016143	chr7:127251359-127726762	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv831123	chr7:127289511-127510396	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv1030387	chr7:127348973-127455890	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv526535	chr7:127445594-127623840	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127382000-127473000	Weak transcription	Hela-S3	cervix
2	chr7:127435000-127459800	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr7:127437200-127455400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr7:127439400-127455400	Weak transcription	Pancreas	Pancrea
5	chr7:127440200-127452600	Weak transcription	Psoas Muscle	Psoas
6	chr7:127440200-127460800	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr7:127441200-127460000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr7:127441400-127458200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr7:127443200-127460200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr7:127444800-127453600	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr7:127446600-127455800	Weak transcription	Fetal Heart	heart
12	chr7:127446600-127456200	Weak transcription	Esophagus	oesophagus
13	chr7:127447600-127452800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr7:127447600-127453600	Strong transcription	Primary T cells from cord blood	blood
15	chr7:127448000-127459600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr7:127448400-127484800	Weak transcription	Aorta	Aorta
17	chr7:127448600-127452600	Genic enhancers	K562	blood
18	chr7:127448600-127459600	Weak transcription	Fetal Intestine Small	intestine
19	chr7:127449000-127484200	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr7:127449200-127459600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr7:127449200-127460000	Weak transcription	NH-A	brain
22	chr7:127449200-127460400	Weak transcription	Placenta	Placenta
23	chr7:127449400-127455800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr7:127449400-127458600	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr7:127449400-127460000	Weak transcription	Primary B cells from peripheral blood	blood
26	chr7:127449600-127452600	Weak transcription	Spleen	Spleen
27	chr7:127449600-127455600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr7:127449600-127456400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr7:127449600-127459400	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr7:127449600-127459600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr7:127449600-127459800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr7:127449600-127460200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr7:127449600-127460800	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr7:127449600-127461200	Weak transcription	Right Atrium	heart
35	chr7:127449600-127472600	Weak transcription	Lung	lung
36	chr7:127449800-127452600	Weak transcription	Fetal Muscle Leg	muscle
37	chr7:127449800-127452600	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr7:127449800-127453600	Weak transcription	Osteobl	bone
39	chr7:127449800-127455400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr7:127449800-127455400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr7:127449800-127455400	Weak transcription	Gastric	stomach
42	chr7:127449800-127455600	Weak transcription	A549	lung
43	chr7:127449800-127456200	Weak transcription	Stomach Smooth Muscle	stomach
44	chr7:127449800-127456800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr7:127449800-127459600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr7:127449800-127459800	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr7:127449800-127460000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr7:127449800-127460000	Weak transcription	Fetal Intestine Large	intestine
49	chr7:127449800-127460000	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr7:127449800-127460000	Weak transcription	Small Intestine	intestine

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