Variant report

Variant	rs73516588
Chromosome Location	chr9:95053643-95053644
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:95052267..95059743-chr9:95085805..95090654,23	MCF-7	breast:
2	chr9:94881159..94883688-chr9:95052555..95054095,2	K562	blood:
3	chr9:95012889..95016491-chr9:95052350..95055798,4	K562	blood:
4	chr9:95013416..95016060-chr9:95050804..95054328,4	K562	blood:
5	chr9:95051112..95065542-chr9:95079443..95091389,38	K562	blood:
6	chr9:95052930..95062724-chr9:95083607..95090664,16	MCF-7	breast:
7	chr9:95003397..95005794-chr9:95052449..95054118,2	K562	blood:
8	chr9:95041855..95050591-chr9:95053528..95058799,10	MCF-7	breast:

No data

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

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs15717	0.97[AFR][1000 genomes]
rs16908281	0.97[AFR][1000 genomes]
rs16908298	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16908313	1.00[AMR][1000 genomes]
rs1868027	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2236343	0.90[AFR][1000 genomes]
rs2236344	0.97[AFR][1000 genomes]
rs2274967	0.97[AFR][1000 genomes]
rs3737147	0.90[AFR][1000 genomes]
rs3847319	0.95[AFR][1000 genomes]
rs57507064	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57537991	1.00[AMR][1000 genomes]
rs57720908	1.00[AMR][1000 genomes]
rs58545014	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59083571	0.90[AFR][1000 genomes]
rs59203890	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59274719	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59491936	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59541513	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59627747	0.86[AFR][1000 genomes]
rs59633583	0.87[AFR][1000 genomes]
rs60502055	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60556849	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60752945	0.97[AFR][1000 genomes]
rs60945405	0.95[AFR][1000 genomes]
rs61217521	0.93[AFR][1000 genomes]
rs67546506	0.90[AFR][1000 genomes]
rs7024757	0.95[AFR][1000 genomes]
rs7027344	0.80[AFR][1000 genomes]
rs73516549	0.95[AFR][1000 genomes]
rs73516561	0.95[AFR][1000 genomes]
rs73516586	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73516599	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73518427	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73518450	1.00[AMR][1000 genomes]
rs73518492	1.00[AMR][1000 genomes]
rs73520510	1.00[AMR][1000 genomes]
rs73520539	0.87[AFR][1000 genomes]
rs73520554	0.81[AFR][1000 genomes]
rs7853817	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7868362	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7872423	0.90[AFR][1000 genomes]
rs7875329	0.81[AFR][1000 genomes];0.85[AMR][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	chr9:94991400-95053800	Strong transcription	HUES48 Cell Line	embryonic stem cell
3	chr9:94991400-95053800	Strong transcription	HUES6 Cell Line	embryonic stem cell
4	chr9:94991800-95053800	Strong transcription	HUES64 Cell Line	embryonic stem cell
5	chr9:94991800-95054000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr9:95002600-95054000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr9:95009000-95053800	Strong transcription	HSMM	muscle
8	chr9:95009600-95054000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr9:95029800-95054000	Weak transcription	Stomach Mucosa	stomach
10	chr9:95040000-95054600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr9:95042200-95055200	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr9:95042800-95054200	Weak transcription	Fetal Brain Male	brain
13	chr9:95042800-95054800	Weak transcription	Aorta	Aorta
14	chr9:95043200-95054000	Weak transcription	Small Intestine	intestine
15	chr9:95046400-95054400	Weak transcription	Colon Smooth Muscle	Colon
16	chr9:95047000-95054000	Weak transcription	Spleen	Spleen
17	chr9:95047000-95054200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr9:95047200-95054400	Weak transcription	Lung	lung
19	chr9:95048000-95054000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr9:95048000-95054200	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr9:95048200-95054000	Weak transcription	Fetal Heart	heart
22	chr9:95048200-95054600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr9:95048200-95054600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr9:95048400-95054000	Weak transcription	Gastric	stomach
25	chr9:95048400-95054600	Weak transcription	Brain Angular Gyrus	brain
26	chr9:95048400-95054600	Weak transcription	Colonic Mucosa	Colon
27	chr9:95048600-95054000	Weak transcription	Fetal Intestine Small	intestine
28	chr9:95048600-95054000	Weak transcription	Right Ventricle	heart
29	chr9:95048600-95054200	Weak transcription	Pancreas	Pancrea
30	chr9:95048600-95054400	Weak transcription	Esophagus	oesophagus
31	chr9:95048600-95054400	Weak transcription	Fetal Stomach	stomach
32	chr9:95048600-95054400	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr9:95048600-95054600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr9:95048600-95054600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr9:95048600-95054600	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr9:95048800-95054000	Weak transcription	Brain Cingulate Gyrus	brain
37	chr9:95048800-95054000	Weak transcription	Left Ventricle	heart
38	chr9:95049000-95054000	Weak transcription	Brain Hippocampus Middle	brain
39	chr9:95049600-95054400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr9:95049600-95054400	Weak transcription	Fetal Lung	lung
41	chr9:95049600-95054800	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr9:95050200-95053800	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr9:95050200-95053800	Weak transcription	NHLF	lung
44	chr9:95050400-95053800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr9:95050400-95054600	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr9:95050600-95053800	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr9:95050600-95054600	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr9:95050600-95054600	Weak transcription	Brain Substantia Nigra	brain
49	chr9:95050800-95053800	Weak transcription	Brain Germinal Matrix	brain
50	chr9:95050800-95054600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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