Variant report

Variant	rs72750469
Chromosome Location	chr9:95054708-95054709
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:95052267..95059743-chr9:95085805..95090654,23	MCF-7	breast:
2	chr9:95054612..95057091-chr9:95526187..95528018,2	K562	blood:
3	chr9:95012889..95016491-chr9:95052350..95055798,4	K562	blood:
4	chr9:95051112..95065542-chr9:95079443..95091389,38	K562	blood:
5	chr9:95004787..95006514-chr9:95054473..95056425,2	K562	blood:
6	chr9:95052930..95062724-chr9:95083607..95090664,16	MCF-7	breast:
7	chr9:95041855..95050591-chr9:95053528..95058799,10	MCF-7	breast:

Variant related genes	Relation type
ENSG00000196305	Chromatin interaction
ENSG00000198000	Chromatin interaction
ENSG00000185963	Chromatin interaction
ENSG00000188312	Chromatin interaction

Extended variants
information (count: 165 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:159)

rs_ID	r²[population]
rs15717	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16908281	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17518691	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17518754	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17519320	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17519397	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17519453	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17519719	1.00[AMR][1000 genomes]
rs17519922	1.00[AMR][1000 genomes]
rs17590748	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17591007	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17591372	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17591776	1.00[AMR][1000 genomes]
rs17591958	1.00[AMR][1000 genomes]
rs17677599	0.90[ASN][1000 genomes]
rs17678735	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2044540	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2230405	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2236343	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2236344	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2236529	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2273860	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2274967	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28365880	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34758505	0.93[AMR][1000 genomes]
rs34860658	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3736834	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3736836	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3737147	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3758228	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3758230	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3758231	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3758232	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3780340	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3780341	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3780342	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3780348	1.00[AMR][1000 genomes]
rs3780349	1.00[AMR][1000 genomes]
rs41276835	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41277647	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41277739	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs41280223	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs41297183	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41301527	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs41307467	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs41312230	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4298540	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59083571	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59627747	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61742574	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67546506	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72750403	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750404	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750405	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750407	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750408	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750409	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750418	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750419	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750420	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750421	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750422	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750426	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750427	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750430	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750431	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750432	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750433	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750434	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750437	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750438	0.83[EUR][1000 genomes]
rs72750441	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750445	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750447	1.00[ASN][1000 genomes]
rs72750448	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750449	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750450	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750451	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750454	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750456	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750457	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750458	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750463	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750465	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750466	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750468	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750472	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750474	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750477	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750478	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750479	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750482	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750483	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750485	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750487	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750490	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750491	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750493	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750494	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750496	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72750498	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750500	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750501	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72750502	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72752403	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72752404	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72752405	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72752406	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72752411	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72752417	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72752419	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72752422	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72752425	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72752427	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72752431	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72752435	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72752442	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72752443	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72752444	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72752445	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72752446	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72752449	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72752453	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72752454	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72752457	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72752458	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72752460	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72752463	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72752467	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72752469	1.00[AMR][1000 genomes]
rs72752471	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72752472	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72752474	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72752475	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72752477	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72752479	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72752482	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72752483	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72752484	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72752485	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72752486	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72752492	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72752493	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72752497	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72752502	1.00[AMR][1000 genomes]
rs72754403	1.00[AMR][1000 genomes]
rs72754404	1.00[AMR][1000 genomes]
rs72754408	1.00[AMR][1000 genomes]
rs72754410	1.00[AMR][1000 genomes]
rs72754411	1.00[AMR][1000 genomes]
rs72754415	1.00[AMR][1000 genomes]
rs72754418	1.00[AMR][1000 genomes]
rs72754420	1.00[AMR][1000 genomes]
rs72754421	1.00[AMR][1000 genomes]
rs72754423	1.00[AMR][1000 genomes]
rs72754425	1.00[AMR][1000 genomes]
rs72754427	1.00[AMR][1000 genomes]
rs7872423	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs921122	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv949008	chr9:94500776-95182133	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv1050845	chr9:94687959-95312406	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv1046733	chr9:94690622-95138564	Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv530947	chr9:94697309-95093377	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	nsv917089	chr9:94857047-95099848	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	nsv893573	chr9:94974188-95355719	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:95042200-95055200	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr9:95042800-95054800	Weak transcription	Aorta	Aorta
3	chr9:95049600-95054800	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr9:95051000-95055000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr9:95051200-95055200	Weak transcription	Placenta	Placenta
6	chr9:95051400-95054800	Weak transcription	Thymus	Thymus
7	chr9:95053000-95054800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr9:95053200-95055000	Transcr. at gene 5' and 3'	NHEK	skin
9	chr9:95053200-95055200	Transcr. at gene 5' and 3'	Dnd41	blood
10	chr9:95053400-95054800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr9:95053400-95054800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr9:95053400-95054800	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr9:95053400-95054800	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr9:95053400-95055000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr9:95053400-95055000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr9:95053400-95055200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr9:95053400-95056600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr9:95053600-95054800	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
19	chr9:95053600-95054800	Enhancers	Primary T cells from cord blood	blood
20	chr9:95053600-95054800	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr9:95053600-95055000	Transcr. at gene 5' and 3'	K562	blood
22	chr9:95053600-95055200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
23	chr9:95053600-95057200	Active TSS	iPS-18 Cell Line	embryonic stem cell
24	chr9:95053800-95054800	Enhancers	Liver	Liver
25	chr9:95053800-95054800	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr9:95053800-95054800	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr9:95053800-95054800	Active TSS	NHLF	lung
28	chr9:95053800-95055000	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
29	chr9:95053800-95055000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
30	chr9:95053800-95055000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr9:95053800-95055200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr9:95053800-95055200	Flanking Active TSS	Hela-S3	cervix
33	chr9:95053800-95055200	Flanking Active TSS	HMEC	breast
34	chr9:95054000-95054800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
35	chr9:95054000-95054800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr9:95054000-95054800	Enhancers	Adipose Nuclei	Adipose
37	chr9:95054000-95054800	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr9:95054000-95054800	Enhancers	Fetal Intestine Large	intestine
39	chr9:95054000-95054800	Enhancers	Fetal Intestine Small	intestine
40	chr9:95054000-95054800	Enhancers	Fetal Muscle Leg	muscle
41	chr9:95054000-95054800	Enhancers	Left Ventricle	heart
42	chr9:95054000-95054800	Enhancers	Right Atrium	heart
43	chr9:95054000-95054800	Enhancers	Stomach Mucosa	stomach
44	chr9:95054000-95054800	Enhancers	Spleen	Spleen
45	chr9:95054000-95055000	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr9:95054000-95055000	Transcr. at gene 5' and 3'	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr9:95054000-95055000	Enhancers	Primary B cells from peripheral blood	blood
48	chr9:95054000-95055000	Enhancers	Primary T cells fromperipheralblood	blood
49	chr9:95054000-95055000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr9:95054000-95055000	Enhancers	Fetal Heart	heart

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