Variant report

Variant	rs72950453
Chromosome Location	chr11:85773014-85773015
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:85764603..85768167-chr11:85770443..85773239,4	K562	blood:
2	chr11:85767944..85769577-chr11:85771277..85773759,2	MCF-7	breast:
3	chr11:85770427..85773942-chr11:85777153..85782179,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000073921	Chromatin interaction

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs10128700	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10501603	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10501605	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10501607	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10898431	0.83[EUR][1000 genomes]
rs11234489	0.85[EUR][1000 genomes]
rs11234492	0.86[EUR][1000 genomes]
rs11234496	0.88[EUR][1000 genomes]
rs11234502	0.89[EUR][1000 genomes]
rs11234512	0.88[EUR][1000 genomes]
rs11234513	0.88[EUR][1000 genomes]
rs11234517	0.89[EUR][1000 genomes]
rs11234544	0.87[EUR][1000 genomes]
rs11234548	0.87[EUR][1000 genomes]
rs12270433	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12271390	0.87[EUR][1000 genomes]
rs12276435	0.87[EUR][1000 genomes]
rs12277986	0.87[EUR][1000 genomes]
rs12278260	0.85[EUR][1000 genomes]
rs12279956	0.89[EUR][1000 genomes]
rs12281494	0.94[EUR][1000 genomes]
rs12281958	0.88[EUR][1000 genomes]
rs12282655	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12284629	0.87[EUR][1000 genomes]
rs12287170	0.89[EUR][1000 genomes]
rs12292364	0.85[EUR][1000 genomes]
rs12294130	0.85[EUR][1000 genomes]
rs1596739	0.83[EUR][1000 genomes]
rs17159904	0.88[EUR][1000 genomes]
rs17744938	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17745105	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17745153	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17745236	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17745248	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17745273	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17745474	0.85[EUR][1000 genomes]
rs17817582	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17817588	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17817690	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17817859	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17817883	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17817919	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17817956	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2001241	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2084077	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs41381550	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4943934	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4943936	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4943937	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4944550	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4944551	0.82[EUR][1000 genomes]
rs4944552	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4944553	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4944554	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4944555	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4944556	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55697624	0.85[EUR][1000 genomes]
rs55791429	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55815523	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56026701	0.91[EUR][1000 genomes]
rs56187740	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56207019	0.86[EUR][1000 genomes]
rs57125313	0.85[EUR][1000 genomes]
rs58937798	0.91[EUR][1000 genomes]
rs7128598	0.86[EUR][1000 genomes]
rs72949419	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72949443	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72950443	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72950456	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72951266	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72951268	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72959177	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72959197	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72959906	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72959929	0.87[EUR][1000 genomes]
rs72961110	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72961111	0.83[EUR][1000 genomes]
rs72963077	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72963086	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72963092	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72965157	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72965166	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7943152	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][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	nsv1035489	chr11:85502953-85778229	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv468774	chr11:85688209-85775059	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv555644	chr11:85688209-85775059	Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	esv1829985	chr11:85740319-85789350	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv1050948	chr11:85756325-85968665	Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
6	nsv541117	chr11:85756325-85968665	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 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	chr11:85752800-85776400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr11:85756000-85776000	Weak transcription	Esophagus	oesophagus
3	chr11:85756600-85775400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr11:85758600-85774400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr11:85759000-85773600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr11:85759400-85773800	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr11:85759400-85774400	Weak transcription	NHEK	skin
8	chr11:85762200-85773800	Weak transcription	NHDF-Ad	bronchial
9	chr11:85764000-85775000	Weak transcription	Fetal Brain Female	brain
10	chr11:85764200-85774800	Weak transcription	HMEC	breast
11	chr11:85764200-85775200	Weak transcription	Fetal Intestine Small	intestine
12	chr11:85764400-85777000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr11:85765000-85773200	Weak transcription	Lung	lung
14	chr11:85765600-85773200	Weak transcription	Spleen	Spleen
15	chr11:85765600-85773800	Weak transcription	Dnd41	blood
16	chr11:85765600-85775400	Weak transcription	Placenta	Placenta
17	chr11:85765600-85777800	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr11:85765800-85775200	Weak transcription	Brain Germinal Matrix	brain
19	chr11:85766000-85773800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr11:85766000-85773800	Weak transcription	HSMM	muscle
21	chr11:85766000-85775400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr11:85767000-85773800	Weak transcription	Thymus	Thymus
23	chr11:85767800-85773800	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr11:85768000-85774000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr11:85768800-85773200	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr11:85768800-85773400	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr11:85768800-85776600	Enhancers	Liver	Liver
28	chr11:85769200-85773600	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr11:85769400-85776400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr11:85769400-85777200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr11:85769600-85773400	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr11:85770200-85773800	Weak transcription	A549	lung
33	chr11:85770200-85774200	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr11:85770400-85773200	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr11:85770400-85773200	Enhancers	Primary T cells fromperipheralblood	blood
36	chr11:85770400-85773400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr11:85770400-85776600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr11:85770600-85773400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr11:85770600-85775200	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr11:85770800-85773800	Enhancers	Hela-S3	cervix
41	chr11:85770800-85776600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr11:85770800-85776600	Weak transcription	Stomach Mucosa	stomach
43	chr11:85770800-85776800	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr11:85770800-85777600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr11:85770800-85778200	Weak transcription	Gastric	stomach
46	chr11:85771000-85775400	Weak transcription	Small Intestine	intestine
47	chr11:85771200-85773600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr11:85771200-85773600	Enhancers	HUVEC	blood vessel
49	chr11:85771200-85774400	Weak transcription	Duodenum Mucosa	Duodenum
50	chr11:85771200-85776600	Enhancers	HepG2	liver

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