Variant report

Variant	rs73442522
Chromosome Location	chr15:72662309-72662310
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:72653916..72656612-chr15:72659800..72662436,2	K562	blood:
2	chr15:72660510..72663608-chr15:72764626..72767270,3	MCF-7	breast:
3	chr15:72661509..72665290-chr15:72667048..72670487,7	K562	blood:
4	chr15:72655383..72663093-chr15:72663659..72669928,14	K562	blood:

Variant related genes	Relation type
ENSG00000261423	Chromatin interaction
ENSG00000260339	Chromatin interaction
ENSG00000166233	Chromatin interaction
ENSG00000260729	Chromatin interaction
ENSG00000213614	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs16956866	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs16956899	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1972692	0.91[ASN][1000 genomes]
rs2009365	0.83[ASN][1000 genomes]
rs2162236	0.83[ASN][1000 genomes]
rs28435418	0.83[ASN][1000 genomes]
rs28562796	0.83[ASN][1000 genomes]
rs2912216	0.91[ASN][1000 genomes]
rs2912228	0.91[ASN][1000 genomes]
rs2959913	0.91[ASN][1000 genomes]
rs3743230	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs59262103	0.83[ASN][1000 genomes]
rs60790003	0.83[ASN][1000 genomes]
rs6494999	0.83[ASN][1000 genomes]
rs7175677	0.83[ASN][1000 genomes]
rs7179350	0.83[ASN][1000 genomes]
rs7182307	0.83[ASN][1000 genomes]
rs73442536	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs73442539	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs73442545	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs73442549	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs73442560	1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs8031264	0.91[ASN][1000 genomes]
rs8032276	0.91[ASN][1000 genomes]
rs962407	1.00[ASN][1000 genomes]
rs9972606	0.91[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	nsv431395	chr15:72266174-72701777	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
2	nsv530817	chr15:72350885-72773374	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
3	esv3430860	chr15:72373723-72849907	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	172 gene(s)	inside rSNPs	diseases
4	nsv534037	chr15:72659210-72964029	Weak transcription Genic enhancers Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 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	chr15:72613200-72666800	Weak transcription	Fetal Heart	heart
2	chr15:72613400-72667600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr15:72634600-72667400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr15:72640600-72667200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr15:72641800-72664800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr15:72642000-72667000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr15:72648400-72667600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr15:72648600-72667000	Weak transcription	Colonic Mucosa	Colon
9	chr15:72648600-72667200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr15:72648800-72667000	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr15:72649000-72667600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr15:72649200-72663800	Weak transcription	Pancreas	Pancrea
13	chr15:72649200-72666800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr15:72649200-72667000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr15:72649200-72667000	Weak transcription	Fetal Brain Female	brain
16	chr15:72649200-72667600	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr15:72649400-72663400	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr15:72649400-72666600	Weak transcription	Gastric	stomach
19	chr15:72649400-72667000	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr15:72649600-72662400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr15:72651400-72667200	Weak transcription	Brain Angular Gyrus	brain
22	chr15:72651600-72662600	Weak transcription	Brain Substantia Nigra	brain
23	chr15:72651600-72667800	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr15:72651800-72666800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr15:72651800-72667000	Weak transcription	NHDF-Ad	bronchial
26	chr15:72651800-72667000	Weak transcription	Osteobl	bone
27	chr15:72651800-72667200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr15:72651800-72667200	Weak transcription	HSMM	muscle
29	chr15:72651800-72667200	Weak transcription	NHLF	lung
30	chr15:72652000-72662400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr15:72652000-72663400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr15:72652000-72663400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr15:72652000-72666400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr15:72652400-72662600	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr15:72652400-72662800	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr15:72652800-72662800	Weak transcription	Ovary	ovary
37	chr15:72653200-72662800	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr15:72653200-72665000	Weak transcription	Psoas Muscle	Psoas
39	chr15:72657400-72664600	Strong transcription	Fetal Intestine Small	intestine
40	chr15:72658200-72663800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr15:72658400-72663200	Strong transcription	Fetal Intestine Large	intestine
42	chr15:72658600-72663000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr15:72658600-72665200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr15:72658800-72666600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr15:72659000-72662400	Genic enhancers	Primary B cells from peripheral blood	blood
46	chr15:72659000-72662400	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr15:72659000-72662600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr15:72659000-72662800	Strong transcription	K562	blood
49	chr15:72659000-72663800	Strong transcription	Fetal Muscle Leg	muscle
50	chr15:72659200-72665200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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