Variant report

Variant	rs72763851
Chromosome Location	chr9:116362086-116362087
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:116353752..116357757-chr9:116360190..116364418,7	K562	blood:
2	chr9:116173212..116174744-chr9:116360049..116362132,2	K562	blood:
3	chr9:116355462..116357757-chr9:116360945..116362836,2	K562	blood:
4	chr9:116354705..116357000-chr9:116361323..116363210,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000138835	Chromatin interaction

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10217341	0.81[EUR][1000 genomes]
rs10981825	0.81[EUR][1000 genomes]
rs10981826	0.81[EUR][1000 genomes]
rs10981827	0.81[EUR][1000 genomes]
rs10981828	0.83[EUR][1000 genomes]
rs10981829	0.81[EUR][1000 genomes]
rs10981831	0.81[EUR][1000 genomes]
rs10981839	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12337340	0.80[EUR][1000 genomes]
rs12338697	0.80[EUR][1000 genomes]
rs12338701	0.80[EUR][1000 genomes]
rs12339493	0.80[EUR][1000 genomes]
rs12339501	0.81[EUR][1000 genomes]
rs12341332	0.80[EUR][1000 genomes]
rs12341490	0.81[EUR][1000 genomes]
rs12343129	0.80[EUR][1000 genomes]
rs12344334	0.81[EUR][1000 genomes]
rs12345968	0.81[EUR][1000 genomes]
rs12346087	0.80[EUR][1000 genomes]
rs12347895	0.80[EUR][1000 genomes]
rs12348214	0.83[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs12348239	0.80[EUR][1000 genomes]
rs12349661	0.81[EUR][1000 genomes]
rs12353541	0.81[EUR][1000 genomes]
rs1890992	0.81[EUR][1000 genomes]
rs3983381	0.81[EUR][1000 genomes]
rs41301525	0.80[EUR][1000 genomes]
rs55696921	0.81[EUR][1000 genomes]
rs55777057	0.81[EUR][1000 genomes]
rs55805468	0.81[EUR][1000 genomes]
rs55931715	0.81[EUR][1000 genomes]
rs56155263	0.81[EUR][1000 genomes]
rs56199016	0.89[EUR][1000 genomes]
rs56276438	0.81[EUR][1000 genomes]
rs56390346	0.81[EUR][1000 genomes]
rs61749208	0.84[EUR][1000 genomes]
rs6478022	0.81[EUR][1000 genomes]
rs6478023	0.81[EUR][1000 genomes]
rs7024445	0.81[EUR][1000 genomes]
rs7024612	0.81[EUR][1000 genomes]
rs7024996	0.81[EUR][1000 genomes]
rs7025170	0.81[EUR][1000 genomes]
rs7043571	0.81[EUR][1000 genomes]
rs7047062	0.80[EUR][1000 genomes]
rs7048208	0.80[EUR][1000 genomes]
rs72761968	0.81[EUR][1000 genomes]
rs72761972	0.81[EUR][1000 genomes]
rs72761982	0.81[EUR][1000 genomes]
rs72761988	0.81[EUR][1000 genomes]
rs72763816	0.81[EUR][1000 genomes]
rs72763826	0.80[EUR][1000 genomes]
rs72763827	0.81[EUR][1000 genomes]
rs72763828	0.80[EUR][1000 genomes]
rs72763831	0.80[EUR][1000 genomes]
rs72763832	0.81[EUR][1000 genomes]
rs72763842	0.80[EUR][1000 genomes]
rs72763843	0.80[EUR][1000 genomes]
rs72763846	0.80[EUR][1000 genomes]
rs72763848	0.83[EUR][1000 genomes]
rs72763849	0.83[EUR][1000 genomes]
rs72763859	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72763861	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7857943	0.80[EUR][1000 genomes]
rs7863159	0.80[EUR][1000 genomes]
rs7865364	0.80[EUR][1000 genomes]
rs7871186	0.80[EUR][1000 genomes]
rs7872192	0.81[EUR][1000 genomes]
rs867375	0.83[EUR][1000 genomes]
rs884899	0.80[EUR][1000 genomes]
rs944345	0.80[EUR][1000 genomes]
rs944346	0.80[EUR][1000 genomes]
rs9657641	0.80[EUR][1000 genomes]
rs9657658	0.80[EUR][1000 genomes]
rs9657659	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530949	chr9:115821128-116487796	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv893747	chr9:116214058-116386438	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv466508	chr9:116244982-116362738	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv615215	chr9:116244982-116362738	Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv526579	chr9:116244982-116391162	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv893748	chr9:116308709-116421786	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv430093	chr9:116330446-117325446	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
8	nsv466509	chr9:116356516-116396098	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
9	nsv615216	chr9:116356516-116396098	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116352400-116363200	Weak transcription	Thymus	Thymus
2	chr9:116356800-116362600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr9:116357400-116364800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr9:116357400-116364800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr9:116357600-116362200	Weak transcription	A549	lung
6	chr9:116357800-116363000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr9:116357800-116364400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr9:116358000-116371800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr9:116358200-116362400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr9:116358200-116362800	Strong transcription	Fetal Intestine Small	intestine
11	chr9:116358400-116363400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr9:116358800-116362600	Enhancers	Fetal Heart	heart
13	chr9:116359200-116363400	Enhancers	Psoas Muscle	Psoas
14	chr9:116359600-116363000	Genic enhancers	Fetal Stomach	stomach
15	chr9:116359600-116363800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr9:116359800-116362800	Weak transcription	Ovary	ovary
17	chr9:116359800-116364400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr9:116360000-116364000	Genic enhancers	NHLF	lung
19	chr9:116360000-116364200	Weak transcription	Fetal Thymus	thymus
20	chr9:116360200-116363600	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr9:116360200-116363600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr9:116360200-116363800	Enhancers	Right Atrium	heart
23	chr9:116360200-116364000	Weak transcription	GM12878-XiMat	blood
24	chr9:116360200-116365400	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr9:116360200-116366400	Enhancers	Placenta	Placenta
26	chr9:116360400-116362200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr9:116360400-116362200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr9:116360400-116362400	Weak transcription	Rectal Smooth Muscle	rectum
29	chr9:116360400-116362600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr9:116360400-116363000	Weak transcription	Fetal Kidney	kidney
31	chr9:116360400-116363400	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr9:116360400-116363600	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr9:116360400-116363600	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr9:116360400-116364000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr9:116360400-116364200	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr9:116360400-116364400	Weak transcription	Small Intestine	intestine
37	chr9:116360400-116364600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr9:116360400-116364600	Weak transcription	Fetal Brain Female	brain
39	chr9:116360400-116371800	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr9:116360600-116362200	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr9:116360600-116362200	Enhancers	Muscle Satellite Cultured Cells	--
42	chr9:116360600-116362200	Weak transcription	Pancreas	Pancrea
43	chr9:116360600-116362400	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr9:116360600-116362400	Weak transcription	Brain Anterior Caudate	brain
45	chr9:116360600-116362400	Genic enhancers	Fetal Muscle Trunk	muscle
46	chr9:116360600-116362600	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr9:116360600-116363200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr9:116360600-116363400	Weak transcription	Brain Hippocampus Middle	brain
49	chr9:116360600-116363600	Weak transcription	Brain Cingulate Gyrus	brain
50	chr9:116360600-116363800	Weak transcription	Brain Angular Gyrus	brain

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