Variant report

Variant	rs72750404
Chromosome Location	chr9:94971195-94971196
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:94894716..94897374-chr9:94969241..94971639,2	K562	blood:
2	chr9:94966366..94969198-chr9:94971038..94974978,3	MCF-7	breast:
3	chr9:94946211..94948106-chr9:94969789..94972073,2	K562	blood:

Variant related genes	Relation type
ENSG00000236115	Chromatin interaction

Extended variants
information (count: 123 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:118)

rs_ID	r²[population]
rs15717	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16908281	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17518691	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17518754	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17590748	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17591007	0.88[EUR][1000 genomes]
rs17677599	1.00[ASN][1000 genomes]
rs17678735	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2044540	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2230405	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2236343	0.83[EUR][1000 genomes]
rs2236344	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2236529	0.88[EUR][1000 genomes]
rs2273860	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2274967	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28365880	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3736834	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3736836	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3737147	0.83[EUR][1000 genomes]
rs3758228	0.88[EUR][1000 genomes]
rs3758230	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3758231	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3758232	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3780340	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3780341	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3780342	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41276835	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs41277647	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs41277739	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs41280223	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41297183	0.88[EUR][1000 genomes]
rs41301527	0.88[EUR][1000 genomes]
rs41307467	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41312230	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4298540	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59083571	0.83[EUR][1000 genomes]
rs59627747	0.88[EUR][1000 genomes]
rs61742574	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67546506	0.83[EUR][1000 genomes]
rs72750403	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750405	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750407	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750408	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750409	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750418	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750419	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750420	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750421	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750422	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750426	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750427	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750430	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750431	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750432	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750433	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750434	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750437	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750438	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72750441	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750445	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750447	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750448	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750449	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750450	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750451	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750454	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750456	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750457	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750458	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750463	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750465	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750466	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750468	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750469	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750472	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750474	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750477	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750478	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750479	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750482	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750483	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750485	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750487	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750490	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750491	0.90[ASN][1000 genomes]
rs72750493	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72750494	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72750496	0.83[EUR][1000 genomes]
rs72750498	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72750500	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72750501	0.88[EUR][1000 genomes]
rs72750502	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72752403	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72752404	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72752405	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72752406	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72752411	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72752417	0.83[EUR][1000 genomes]
rs72752419	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72752422	0.83[EUR][1000 genomes]
rs72752425	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72752427	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72752431	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72752435	0.83[EUR][1000 genomes]
rs72752442	0.88[EUR][1000 genomes]
rs72752443	0.88[EUR][1000 genomes]
rs72752444	0.88[EUR][1000 genomes]
rs72752445	0.88[EUR][1000 genomes]
rs72752446	0.88[EUR][1000 genomes]
rs72752449	0.88[EUR][1000 genomes]
rs72752453	0.88[EUR][1000 genomes]
rs72752454	0.88[EUR][1000 genomes]
rs72752457	0.88[EUR][1000 genomes]
rs72752458	0.88[EUR][1000 genomes]
rs72752460	0.88[EUR][1000 genomes]
rs72752463	0.88[EUR][1000 genomes]
rs7872423	0.83[EUR][1000 genomes]
rs921122	0.88[EUR][1000 genomes];0.90[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	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

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94959400-94971200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr9:94959400-94973200	Weak transcription	Pancreas	Pancrea
3	chr9:94966000-94973400	Weak transcription	Esophagus	oesophagus
4	chr9:94966600-94971200	Weak transcription	Fetal Intestine Large	intestine
5	chr9:94967600-94971400	Weak transcription	Rectal Smooth Muscle	rectum
6	chr9:94967800-94971200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr9:94968600-94971200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr9:94968800-94971200	Weak transcription	Fetal Stomach	stomach
9	chr9:94968800-94971400	Weak transcription	Right Ventricle	heart
10	chr9:94968800-94972000	Weak transcription	Fetal Intestine Small	intestine
11	chr9:94968800-94976800	Strong transcription	A549	lung
12	chr9:94969000-94971200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr9:94969000-94975400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr9:94969200-94972800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr9:94969400-94971200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr9:94969400-94971200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr9:94969400-94971200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr9:94969400-94971200	Weak transcription	Aorta	Aorta
19	chr9:94969400-94971200	Weak transcription	Spleen	Spleen
20	chr9:94969400-94971200	Weak transcription	NHEK	skin
21	chr9:94969600-94971200	Weak transcription	Brain Angular Gyrus	brain
22	chr9:94969600-94971200	Weak transcription	Colon Smooth Muscle	Colon
23	chr9:94969600-94971200	Weak transcription	Fetal Kidney	kidney
24	chr9:94969600-94971200	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr9:94969600-94971200	Weak transcription	Ovary	ovary
26	chr9:94969600-94973400	Weak transcription	Small Intestine	intestine
27	chr9:94969600-94975000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr9:94969600-94976200	Strong transcription	NH-A	brain
29	chr9:94969600-94977000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr9:94969800-94971400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr9:94969800-94971400	Weak transcription	Fetal Brain Male	brain
32	chr9:94969800-94971400	Weak transcription	Gastric	stomach
33	chr9:94969800-94975400	Strong transcription	Osteobl	bone
34	chr9:94969800-94976400	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr9:94969800-94976800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr9:94970000-94971200	Weak transcription	Stomach Smooth Muscle	stomach
37	chr9:94970000-94976600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr9:94970200-94973000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr9:94970200-94974200	Strong transcription	Left Ventricle	heart
40	chr9:94970400-94975000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr9:94970400-94976000	Strong transcription	Hela-S3	cervix
42	chr9:94970400-94976400	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr9:94970400-94976600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr9:94970400-94976600	Strong transcription	Liver	Liver
45	chr9:94970400-94976600	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr9:94970400-94976800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr9:94970400-94976800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr9:94970400-94977200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr9:94970400-94977800	Strong transcription	Primary T cells from cord blood	blood
50	chr9:94970600-94972200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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