Variant report

Variant	rs73315902
Chromosome Location	chr17:45773725-45773726
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:45725675..45729413-chr17:45768882..45774493,5	K562	blood:
2	chr17:45773167..45774951-chr17:45788821..45791623,2	K562	blood:
3	chr17:45724693..45730044-chr17:45766323..45778247,15	K562	blood:
4	chr17:45748954..45758231-chr17:45766475..45774270,24	MCF-7	breast:
5	chr17:45773054..45774558-chr17:45795596..45798236,2	K562	blood:
6	chr17:45739146..45741935-chr17:45773163..45775798,2	K562	blood:
7	chr17:45751758..45755455-chr17:45769353..45774872,5	MCF-7	breast:
8	chr17:45769286..45774957-chr17:48935664..48947128,23	MCF-7	breast:
9	chr17:45773393..45775403-chr17:45814173..45816212,2	K562	blood:
10	chr17:45751071..45752613-chr17:45773373..45775358,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000108424	Chromatin interaction
ENSG00000229980	Chromatin interaction
ENSG00000141232	Chromatin interaction
ENSG00000263766	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs59850266	1.00[AFR][1000 genomes]
rs73317913	1.00[AFR][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	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer 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 miRNA target site	70 gene(s)	inside rSNPs	diseases
2	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
3	nsv908571	chr17:45765249-45821510	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
4	nsv9570	chr17:45770873-45779791	Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45770800-45774000	Active TSS	Right Atrium	heart
2	chr17:45770800-45774400	Active TSS	Left Ventricle	heart
3	chr17:45771000-45773800	Active TSS	Duodenum Smooth Muscle	Duodenum
4	chr17:45772200-45773800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr17:45772200-45773800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
6	chr17:45772200-45774200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr17:45772200-45774400	Enhancers	Fetal Brain Male	brain
8	chr17:45772200-45774600	Flanking Active TSS	Adipose Nuclei	Adipose
9	chr17:45772400-45773800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr17:45772400-45773800	Flanking Active TSS	Fetal Muscle Trunk	muscle
11	chr17:45772400-45773800	Flanking Active TSS	Right Ventricle	heart
12	chr17:45772400-45773800	Flanking Active TSS	Stomach Smooth Muscle	stomach
13	chr17:45772600-45776800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr17:45772600-45777800	Weak transcription	Aorta	Aorta
15	chr17:45772600-45783600	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr17:45772800-45773800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
17	chr17:45772800-45773800	Enhancers	Fetal Lung	lung
18	chr17:45772800-45783800	Weak transcription	HSMMtube	muscle
19	chr17:45772800-45783800	Weak transcription	NHDF-Ad	bronchial
20	chr17:45773000-45773800	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr17:45773000-45773800	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr17:45773000-45773800	Enhancers	Pancreas	Pancrea
23	chr17:45773000-45774000	Weak transcription	A549	lung
24	chr17:45773000-45774200	Weak transcription	HepG2	liver
25	chr17:45773000-45774800	Enhancers	Primary B cells from cord blood	blood
26	chr17:45773000-45776600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr17:45773000-45776600	Enhancers	Primary T cells fromperipheralblood	blood
28	chr17:45773000-45778400	Weak transcription	K562	blood
29	chr17:45773000-45778800	Weak transcription	NH-A	brain
30	chr17:45773000-45779000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr17:45773000-45779600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr17:45773000-45782000	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr17:45773000-45783800	Weak transcription	Brain Angular Gyrus	brain
34	chr17:45773200-45774000	Active TSS	Primary T helper cells PMA-I stimulated	--
35	chr17:45773200-45774000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr17:45773200-45774000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr17:45773200-45774400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
38	chr17:45773200-45776400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr17:45773200-45776400	Genic enhancers	Spleen	Spleen
40	chr17:45773200-45776600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr17:45773200-45776600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr17:45773200-45777800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr17:45773200-45777800	Weak transcription	Fetal Intestine Large	intestine
44	chr17:45773200-45781400	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr17:45773200-45781400	Weak transcription	NHEK	skin
46	chr17:45773200-45782200	Weak transcription	Brain Substantia Nigra	brain
47	chr17:45773200-45783600	Weak transcription	Brain Anterior Caudate	brain
48	chr17:45773200-45783600	Weak transcription	Brain Cingulate Gyrus	brain
49	chr17:45773400-45773800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr17:45773400-45773800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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