Variant report

Variant	rs73321625
Chromosome Location	chr17:45977502-45977503
allele	A/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:9)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:45976149..45977762-chr17:46023014..46025634,2	MCF-7	breast:
2	chr17:45973201..45977546-chr17:46016018..46021091,7	K562	blood:
3	chr17:45976034..45978466-chr17:46021593..46024287,3	K562	blood:
4	chr17:45976761..45979626-chr17:46046892..46049252,2	K562	blood:
5	chr17:45976034..45977623-chr17:46022705..46024287,2	K562	blood:
6	chr17:45971510..45977679-chr17:46016123..46021422,20	MCF-7	breast:
7	chr17:45975938..45978539-chr17:45995785..45997844,2	MCF-7	breast:
8	chr17:45909200..45911562-chr17:45975742..45978250,2	K562	blood:
9	chr17:45959665..45962202-chr17:45976035..45979833,4	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PRR15L-5	chr17:45976997-45977744	ENSG00000234494.2
2	lnc-PRR15L-5	chr17:45976151-45977744	ENSG00000234494.2
3	lnc-PRR15L-5	chr17:45975752-45977744	NONHSAT054343
4	lnc-PRR15L-5	chr17:45976151-45977744	NONHSAT054346

No data

Variant related genes	Relation type
ENSG00000108465	Chromatin interaction
ENSG00000108439	Chromatin interaction
ENSG00000263798	Chromatin interaction
ENSG00000266821	Chromatin interaction
ENSG00000234494	Chromatin interaction
ENSG00000141294	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs12450849	1.00[EUR][1000 genomes]
rs12452989	1.00[EUR][1000 genomes]
rs12453958	1.00[EUR][1000 genomes]
rs2525089	1.00[ASN][1000 genomes]
rs2525099	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2525100	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2597167	1.00[ASN][1000 genomes]
rs2597176	1.00[ASN][1000 genomes]
rs2923063	1.00[ASN][1000 genomes]
rs56947799	1.00[ASN][1000 genomes]
rs60163848	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60876341	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61521088	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73321620	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73321628	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73321689	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73985431	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73985445	1.00[ASN][1000 genomes]
rs9889272	1.00[EUR][1000 genomes]
rs9890122	1.00[EUR][1000 genomes]
rs9899629	1.00[EUR][1000 genomes]
rs9907614	1.00[EUR][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	nsv498122	chr17:45763853-46064327	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv518892	chr17:45887951-46029432	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv908575	chr17:45957591-46049533	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
4	nsv1062503	chr17:45977445-46021384	Strong transcription Genic enhancers Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45974200-45982800	Weak transcription	Spleen	Spleen
2	chr17:45974400-45978800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr17:45974600-45979000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr17:45974600-45981600	Weak transcription	Pancreas	Pancrea
5	chr17:45974600-45981800	Weak transcription	Ovary	ovary
6	chr17:45974600-45992000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr17:45974800-45978800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr17:45975000-45977800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr17:45975000-45978000	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr17:45975000-45978800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr17:45975000-45982000	Weak transcription	Esophagus	oesophagus
12	chr17:45975000-45982200	Weak transcription	Colonic Mucosa	Colon
13	chr17:45975000-45982800	Weak transcription	Gastric	stomach
14	chr17:45975000-45993400	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr17:45975200-45977600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr17:45975200-45978000	Weak transcription	NHLF	lung
17	chr17:45975200-45979000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr17:45975200-45980800	Genic enhancers	Fetal Muscle Leg	muscle
19	chr17:45975200-45982200	Weak transcription	Stomach Mucosa	stomach
20	chr17:45975200-45999400	Weak transcription	Fetal Kidney	kidney
21	chr17:45975200-46000400	Weak transcription	Small Intestine	intestine
22	chr17:45975400-45977600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr17:45975400-45977600	Weak transcription	NH-A	brain
24	chr17:45975400-45977800	Genic enhancers	Fetal Thymus	thymus
25	chr17:45975400-45981600	Weak transcription	A549	lung
26	chr17:45975400-45981800	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr17:45975400-45982400	Weak transcription	NHEK	skin
28	chr17:45975400-45983000	Weak transcription	HUVEC	blood vessel
29	chr17:45975600-45977600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr17:45975600-45977800	Strong transcription	Fetal Intestine Large	intestine
31	chr17:45975600-45977800	Genic enhancers	Thymus	Thymus
32	chr17:45975600-45978200	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr17:45975600-45980000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr17:45975600-45981600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr17:45975600-45992800	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr17:45975800-45977800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr17:45975800-45978400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr17:45975800-45978800	Weak transcription	Brain Angular Gyrus	brain
39	chr17:45975800-45979400	Weak transcription	Brain Cingulate Gyrus	brain
40	chr17:45975800-45981800	Strong transcription	Fetal Stomach	stomach
41	chr17:45975800-46000600	Weak transcription	Hela-S3	cervix
42	chr17:45976000-45978200	Strong transcription	HSMM	muscle
43	chr17:45976000-45979200	Strong transcription	Fetal Lung	lung
44	chr17:45976000-45979600	Strong transcription	Placenta	Placenta
45	chr17:45976000-45980200	Strong transcription	Primary B cells from peripheral blood	blood
46	chr17:45976000-45981600	Weak transcription	Duodenum Mucosa	Duodenum
47	chr17:45976200-45978000	Strong transcription	Primary T cells from cord blood	blood
48	chr17:45976200-45978400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr17:45976200-45978400	Strong transcription	Primary T killer memory cells from peripheral blood	blood
50	chr17:45976200-45978600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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