Variant report

Variant	rs11521053
Chromosome Location	chr7:127432561-127432562
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:127378701..127379325-chr7:127432045..127432869,2	MCF-7	breast:
2	chr7:127349398..127351131-chr7:127431293..127433325,2	K562	blood:
3	chr7:127426661..127429547-chr7:127431448..127433989,3	K562	blood:
4	chr7:127432019..127433909-chr7:127448811..127450674,2	K562	blood:
5	chr7:127432543..127434957-chr7:127674318..127675845,2	MCF-7	breast:

Extended variants
information (count: 106 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:101)

rs_ID	r²[population]
rs10215276	0.89[ASN][1000 genomes]
rs10251423	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10251548	0.92[EUR][1000 genomes]
rs10255861	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs10260037	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1029927	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1075206	0.81[ASN][1000 genomes]
rs10954163	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11971935	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11972774	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11976841	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11976946	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11977012	0.85[ASN][1000 genomes]
rs11977915	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs11980318	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs12531440	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12533846	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12539728	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12540865	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13236900	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13237048	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13246200	0.83[YRI][hapmap]
rs1362268	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs141450	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1419969	0.83[ASN][1000 genomes]
rs16885524	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17151241	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17151270	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17151466	0.94[YRI][hapmap]
rs17716738	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs17718395	0.96[ASN][1000 genomes]
rs1860934	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1881084	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2014583	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2016786	0.99[EUR][1000 genomes]
rs2043982	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2119452	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2119453	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2141259	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2402866	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2402867	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2402870	0.99[EUR][1000 genomes]
rs325440	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs325442	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs325444	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs325445	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs325446	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs325447	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs325451	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs327518	0.85[CHB][hapmap]
rs35121681	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35176520	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35940771	0.99[EUR][1000 genomes]
rs35971861	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3779529	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3779530	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3808073	1.00[JPT][hapmap]
rs3808087	0.83[ASN][1000 genomes]
rs3808092	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3808093	0.84[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3808095	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3808097	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3808105	0.85[ASN][1000 genomes]
rs3808106	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3808107	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3808112	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3824000	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs4728077	0.85[ASN][1000 genomes]
rs4731376	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4731378	0.99[EUR][1000 genomes]
rs55694225	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56306023	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58583807	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6467145	0.99[EUR][1000 genomes]
rs6948493	1.00[JPT][hapmap]
rs6961381	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6963455	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6963614	1.00[JPT][hapmap]
rs6968199	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6969880	0.94[EUR][1000 genomes]
rs712712	0.93[EUR][1000 genomes]
rs712716	1.00[CEU][hapmap];0.91[JPT][hapmap];0.95[EUR][1000 genomes]
rs73234861	0.85[ASN][1000 genomes]
rs73234862	0.85[ASN][1000 genomes]
rs73234880	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73234882	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73234897	0.96[ASN][1000 genomes]
rs73234901	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs741599	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs759843	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7785050	0.95[EUR][1000 genomes]
rs7786041	0.89[ASN][1000 genomes]
rs7797663	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7799882	0.99[EUR][1000 genomes]
rs887745	1.00[JPT][hapmap]
rs917831	1.00[JPT][hapmap]
rs917832	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs918793	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs972088	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs972089	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs972090	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127379200-127437400	Weak transcription	Fetal Stomach	stomach
2	chr7:127382000-127473000	Weak transcription	Hela-S3	cervix
3	chr7:127395800-127437200	Weak transcription	Fetal Muscle Leg	muscle
4	chr7:127401000-127447600	Weak transcription	Fetal Intestine Large	intestine
5	chr7:127401000-127447800	Weak transcription	Fetal Intestine Small	intestine
6	chr7:127403800-127433400	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr7:127407400-127439200	Weak transcription	Primary T cells from cord blood	blood
8	chr7:127407400-127447600	Weak transcription	Dnd41	blood
9	chr7:127410200-127432800	Weak transcription	Psoas Muscle	Psoas
10	chr7:127411400-127437200	Weak transcription	Left Ventricle	heart
11	chr7:127419800-127435200	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr7:127422400-127445400	Weak transcription	Aorta	Aorta
13	chr7:127423000-127437200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr7:127423000-127437400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr7:127423000-127437800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr7:127423000-127437800	Weak transcription	Fetal Lung	lung
17	chr7:127423000-127449200	Weak transcription	Small Intestine	intestine
18	chr7:127423200-127432600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr7:127423200-127437400	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr7:127423200-127440000	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr7:127423200-127447600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr7:127423400-127432600	Weak transcription	Brain Substantia Nigra	brain
23	chr7:127423400-127433400	Weak transcription	Brain Hippocampus Middle	brain
24	chr7:127423400-127449000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr7:127423600-127433200	Weak transcription	GM12878-XiMat	blood
26	chr7:127423600-127437800	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr7:127423600-127447400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr7:127425400-127433000	Weak transcription	Ovary	ovary
29	chr7:127425800-127436400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr7:127426200-127439400	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr7:127426600-127438200	Weak transcription	HSMMtube	muscle
32	chr7:127427600-127432600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr7:127427600-127432800	Weak transcription	HepG2	liver
34	chr7:127427600-127433600	Weak transcription	Fetal Kidney	kidney
35	chr7:127427600-127438800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr7:127427600-127447600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr7:127427600-127447600	Weak transcription	Thymus	Thymus
38	chr7:127427800-127432800	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr7:127427800-127437800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr7:127428000-127437200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr7:127428200-127432800	Weak transcription	Brain Angular Gyrus	brain
42	chr7:127428200-127432800	Weak transcription	Esophagus	oesophagus
43	chr7:127428200-127433600	Weak transcription	Adipose Nuclei	Adipose
44	chr7:127428200-127435800	Weak transcription	HUVEC	blood vessel
45	chr7:127428200-127437400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr7:127428400-127432800	Weak transcription	Primary B cells from cord blood	blood
47	chr7:127429000-127432600	Weak transcription	Primary B cells from peripheral blood	blood
48	chr7:127429000-127432800	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr7:127429400-127437200	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr7:127429800-127434200	Weak transcription	Brain Germinal Matrix	brain

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