Variant report

Variant	rs72750465
Chromosome Location	chr9:95051799-95051800
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr9:95048736-95059563	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:95046768..95049749-chr9:95051376..95053120,3	MCF-7	breast:
2	chr9:95043031..95045621-chr9:95049059..95052537,3	MCF-7	breast:
3	chr9:95013416..95016060-chr9:95050804..95054328,4	K562	blood:
4	chr9:95051112..95065542-chr9:95079443..95091389,38	K562	blood:
5	chr9:95051000..95052739-chr9:95054366..95056003,2	MCF-7	breast:

No data

Variant related genes	Relation type
IARS	TF binding region
ENSG00000196305	Chromatin interaction
ENSG00000239183	Chromatin interaction
ENSG00000198000	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]
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]
rs72750469	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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94990200-95054000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr9:94991200-95052400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
3	chr9:94991200-95053600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
4	chr9:94991400-95052400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr9:94991400-95053600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
6	chr9:94991400-95053800	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr9:94991400-95053800	Strong transcription	HUES6 Cell Line	embryonic stem cell
8	chr9:94991800-95053800	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr9:94991800-95054000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr9:94994000-95053000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr9:94996200-95052000	Strong transcription	Fetal Muscle Trunk	muscle
12	chr9:94996400-95052000	Strong transcription	Duodenum Mucosa	Duodenum
13	chr9:95002600-95054000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr9:95009000-95053800	Strong transcription	HSMM	muscle
15	chr9:95009600-95054000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr9:95011600-95052000	Strong transcription	K562	blood
17	chr9:95012000-95052200	Strong transcription	GM12878-XiMat	blood
18	chr9:95015400-95053000	Strong transcription	Primary hematopoietic stem cells	blood
19	chr9:95015800-95053200	Strong transcription	Hela-S3	cervix
20	chr9:95019200-95053600	Strong transcription	HUVEC	blood vessel
21	chr9:95029800-95054000	Weak transcription	Stomach Mucosa	stomach
22	chr9:95039000-95051800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr9:95039000-95052800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr9:95039000-95053200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr9:95039200-95051800	Strong transcription	HMEC	breast
26	chr9:95039200-95052200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr9:95039200-95052600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr9:95039400-95052600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr9:95039800-95052600	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr9:95039800-95052800	Strong transcription	Primary T helper cells PMA-I stimulated	--
31	chr9:95040000-95052200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr9:95040000-95054600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr9:95041000-95052400	Strong transcription	Osteobl	bone
34	chr9:95041400-95052000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr9:95041800-95052400	Strong transcription	NHEK	skin
36	chr9:95042200-95055200	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr9:95042800-95054200	Weak transcription	Fetal Brain Male	brain
38	chr9:95042800-95054800	Weak transcription	Aorta	Aorta
39	chr9:95043200-95054000	Weak transcription	Small Intestine	intestine
40	chr9:95045000-95052000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr9:95045000-95053400	Weak transcription	Psoas Muscle	Psoas
42	chr9:95045200-95053200	Strong transcription	A549	lung
43	chr9:95046000-95052400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr9:95046400-95052000	Strong transcription	NHDF-Ad	bronchial
45	chr9:95046400-95054400	Weak transcription	Colon Smooth Muscle	Colon
46	chr9:95047000-95053400	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr9:95047000-95054000	Weak transcription	Spleen	Spleen
48	chr9:95047000-95054200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr9:95047200-95054400	Weak transcription	Lung	lung
50	chr9:95048000-95054000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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