Variant report

Variant	rs72753557
Chromosome Location	chr9:100683304-100683305
allele	C/T
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:100682029..100688801-chr9:100740969..100749393,29	MCF-7	breast:
2	chr9:100682922..100687440-chr9:100817123..100820939,8	MCF-7	breast:
3	chr9:100442755..100444347-chr9:100682723..100684421,2	K562	blood:
4	chr9:100681549..100683928-chr9:100781112..100782667,2	K562	blood:
5	chr9:100393929..100396893-chr9:100683273..100687162,3	K562	blood:
6	chr9:100683217..100685598-chr9:100817702..100819594,2	MCF-7	breast:
7	chr9:100682586..100684494-chr9:100954318..100956463,2	MCF-7	breast:
8	chr9:100678422..100708679-chr9:100734559..100755577,174	K562	blood:
9	chr9:100683172..100685162-chr9:100749919..100752438,2	MCF-7	breast:
10	chr9:100683079..100687048-chr9:101015405..101020638,4	K562	blood:
11	chr9:100466474..100468807-chr9:100682892..100684747,2	MCF-7	breast:
12	chr9:100682507..100691249-chr9:100739828..100748095,35	MCF-7	breast:
13	chr9:100679913..100686278-chr9:100816188..100820459,11	K562	blood:
14	chr9:100675954..100709047-chr9:100737887..100755543,175	K562	blood:
15	chr9:100683227..100687367-chr9:100758311..100762778,5	K562	blood:
16	chr9:100680787..100683644-chr9:100817248..100819899,3	K562	blood:
17	chr9:100682848..100684487-chr9:100772925..100774602,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000236896	Chromatin interaction
ENSG00000106789	Chromatin interaction
ENSG00000136938	Chromatin interaction
ENSG00000095383	Chromatin interaction
ENSG00000136925	Chromatin interaction
ENSG00000095380	Chromatin interaction
ENSG00000136937	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10512256	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1059003	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10983892	0.82[EUR][1000 genomes]
rs10983893	0.82[EUR][1000 genomes]
rs10983896	0.82[EUR][1000 genomes]
rs10984009	0.82[EUR][1000 genomes]
rs10984098	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10984377	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10984516	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10984522	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10984532	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10984545	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12156487	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12375612	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12376113	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13295123	0.82[EUR][1000 genomes]
rs1348387	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17687621	0.90[EUR][1000 genomes]
rs1947015	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4514106	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4742708	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4743143	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4743144	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4743149	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs55978521	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7032302	0.82[EUR][1000 genomes]
rs7037172	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72753506	0.82[EUR][1000 genomes]
rs72753508	0.82[EUR][1000 genomes]
rs72753537	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72753579	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72753581	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72753588	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7851498	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7854948	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv893611	chr9:100561055-100739888	Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
2	nsv1048135	chr9:100666931-100717030	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
3	nsv525113	chr9:100669799-100686815	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
4	nsv524282	chr9:100677166-100684757	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100662800-100684200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr9:100667200-100684200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr9:100670000-100684200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr9:100670800-100684200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr9:100672800-100684200	Weak transcription	Esophagus	oesophagus
6	chr9:100673000-100684000	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr9:100673600-100684000	Weak transcription	NHDF-Ad	bronchial
8	chr9:100673800-100683400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr9:100673800-100683400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr9:100673800-100684000	Weak transcription	Aorta	Aorta
11	chr9:100673800-100684200	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr9:100673800-100684400	Weak transcription	Spleen	Spleen
13	chr9:100674600-100684000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr9:100675200-100683800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr9:100675200-100684000	Weak transcription	Colonic Mucosa	Colon
16	chr9:100675200-100684000	Weak transcription	A549	lung
17	chr9:100675200-100684000	Weak transcription	NH-A	brain
18	chr9:100675200-100684200	Weak transcription	Ovary	ovary
19	chr9:100675400-100684000	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr9:100675400-100684000	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr9:100675400-100684000	Weak transcription	Fetal Heart	heart
22	chr9:100675400-100684000	Weak transcription	Psoas Muscle	Psoas
23	chr9:100675400-100684000	Weak transcription	HUVEC	blood vessel
24	chr9:100675400-100684000	Weak transcription	Osteobl	bone
25	chr9:100675600-100684000	Weak transcription	NHLF	lung
26	chr9:100676000-100684000	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr9:100676200-100683800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr9:100676200-100684000	Weak transcription	Fetal Brain Male	brain
29	chr9:100676200-100684200	Weak transcription	Gastric	stomach
30	chr9:100676400-100684000	Weak transcription	Brain Angular Gyrus	brain
31	chr9:100677400-100684000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr9:100677600-100683400	Weak transcription	HMEC	breast
33	chr9:100678200-100684000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr9:100678400-100683400	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr9:100678400-100683800	Weak transcription	Fetal Brain Female	brain
36	chr9:100678400-100684000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr9:100678400-100684000	Weak transcription	Fetal Lung	lung
38	chr9:100678400-100684000	Weak transcription	Right Ventricle	heart
39	chr9:100678400-100684000	Weak transcription	HSMMtube	muscle
40	chr9:100678600-100683400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr9:100678600-100683400	Weak transcription	Duodenum Mucosa	Duodenum
42	chr9:100678600-100683400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr9:100678600-100683600	Weak transcription	Fetal Muscle Trunk	muscle
44	chr9:100678600-100683600	Weak transcription	Fetal Muscle Leg	muscle
45	chr9:100678600-100683800	Weak transcription	HSMM	muscle
46	chr9:100678600-100684000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr9:100678600-100684000	Weak transcription	Fetal Stomach	stomach
48	chr9:100678600-100684200	Weak transcription	Left Ventricle	heart
49	chr9:100678600-100684200	Weak transcription	Lung	lung
50	chr9:100678600-100684200	Weak transcription	Pancreas	Pancrea

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