Variant report

Variant	rs73398517
Chromosome Location	chr15:41062316-41062317
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:40987273..40988882-chr15:41061961..41063775,2	K562	blood:
2	chr15:41054628..41058503-chr15:41058814..41065530,15	K562	blood:
3	chr15:41035825..41037680-chr15:41060818..41063658,2	K562	blood:

Variant related genes	Relation type
ENSG00000137880	Chromatin interaction
ENSG00000051180	Chromatin interaction
ENSG00000137824	Chromatin interaction
ENSG00000245849	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs16970995	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16970997	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16971004	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16971013	0.85[AMR][1000 genomes]
rs16971015	0.85[AMR][1000 genomes]
rs1814415	1.00[AMR][1000 genomes]
rs2004043	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs2412552	0.99[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs28460049	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28480346	0.85[AMR][1000 genomes]
rs28498351	0.85[AMR][1000 genomes]
rs28718778	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs4343248	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57191378	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57380807	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58036350	0.99[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs61317135	0.85[AMR][1000 genomes]
rs61405952	1.00[AMR][1000 genomes]
rs6492966	0.80[AFR][1000 genomes]
rs7165694	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7166719	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7182456	0.80[AFR][1000 genomes]
rs73398510	0.80[AFR][1000 genomes]
rs73398512	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73398522	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73398528	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73398537	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73398540	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs934783	0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053173	chr15:40933163-41094127	Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv542363	chr15:40933163-41094127	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv904101	chr15:40979651-41275014	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
4	esv1819092	chr15:41017682-41255750	Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
5	nsv904102	chr15:41046883-41201699	Strong transcription Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 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	chr15:41057000-41062600	Enhancers	NH-A	brain
2	chr15:41057200-41063200	Weak transcription	Rectal Smooth Muscle	rectum
3	chr15:41057200-41063400	Weak transcription	HSMMtube	muscle
4	chr15:41057200-41063800	Weak transcription	Colon Smooth Muscle	Colon
5	chr15:41057200-41065400	Weak transcription	Brain Angular Gyrus	brain
6	chr15:41057200-41068200	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr15:41057400-41063200	Enhancers	Stomach Mucosa	stomach
8	chr15:41057400-41070800	Weak transcription	Psoas Muscle	Psoas
9	chr15:41057600-41062600	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr15:41057600-41063800	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr15:41057600-41066600	Weak transcription	Fetal Heart	heart
12	chr15:41057600-41067400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr15:41057800-41063200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr15:41058000-41063400	Weak transcription	Left Ventricle	heart
15	chr15:41058000-41069000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr15:41058200-41066800	Weak transcription	Fetal Kidney	kidney
17	chr15:41058200-41067400	Weak transcription	A549	lung
18	chr15:41058400-41068800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr15:41058600-41063600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr15:41058600-41065600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr15:41058600-41072400	Strong transcription	Placenta	Placenta
22	chr15:41059000-41065400	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr15:41059000-41065600	Weak transcription	NHDF-Ad	bronchial
24	chr15:41059200-41062400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr15:41059200-41072400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr15:41059400-41062400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr15:41059400-41062800	Enhancers	HUVEC	blood vessel
28	chr15:41059400-41063800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr15:41059400-41066800	Weak transcription	K562	blood
30	chr15:41059600-41062400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr15:41059600-41063600	Weak transcription	Osteobl	bone
32	chr15:41059600-41064000	Genic enhancers	Skeletal Muscle Male	skeletal muscle
33	chr15:41059600-41065400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr15:41059600-41066600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr15:41059600-41066600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr15:41059600-41069000	Strong transcription	NHLF	lung
37	chr15:41059800-41062600	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr15:41059800-41063400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr15:41059800-41064800	Weak transcription	Ovary	ovary
40	chr15:41059800-41066200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr15:41059800-41072600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr15:41060000-41065400	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr15:41060000-41072800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr15:41060200-41062800	Genic enhancers	Skeletal Muscle Female	skeletal muscle
45	chr15:41060400-41062600	Enhancers	Sigmoid Colon	Sigmoid Colon
46	chr15:41060400-41064000	Genic enhancers	Fetal Thymus	thymus
47	chr15:41060400-41065400	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr15:41060600-41062400	Enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr15:41060600-41062400	Enhancers	Primary T killer memory cells from peripheral blood	blood
50	chr15:41060600-41062600	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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