Variant report

Variant	rs73398522
Chromosome Location	chr15:41066125-41066126
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:41065890-41066204	K562	blood:	n/a	n/a
2	MAFK	chr15:41066014-41066146	HepG2	liver:	n/a	n/a
3	CTCF	chr15:41066100-41066250	GM12874	blood:	n/a	n/a
4	POLR2A	chr15:41065534-41066429	ECC-1	luminal epithelium:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:41064091..41066187-chr15:41067513..41070158,2	K562	blood:
2	chr15:41055458..41058081-chr15:41065711..41068133,2	K562	blood:
3	chr15:41054740..41057400-chr15:41065538..41067399,2	MCF-7	breast:
4	chr15:41065096..41067533-chr15:41073627..41075600,2	K562	blood:
5	chr15:41062391..41066610-chr15:41066936..41069911,4	MCF-7	breast:
6	chr15:41065096..41066923-chr15:41074100..41076275,2	K562	blood:
7	chr15:41034700..41036340-chr15:41066010..41067786,2	K562	blood:

No data

Variant related genes	Relation type
DNAJC17	TF binding region
ENSG00000137880	Chromatin interaction
ENSG00000104129	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]
rs73398517	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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41057200-41068200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr15:41057400-41070800	Weak transcription	Psoas Muscle	Psoas
3	chr15:41057600-41066600	Weak transcription	Fetal Heart	heart
4	chr15:41057600-41067400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr15:41058000-41069000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr15:41058200-41066800	Weak transcription	Fetal Kidney	kidney
7	chr15:41058200-41067400	Weak transcription	A549	lung
8	chr15:41058400-41068800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr15:41058600-41072400	Strong transcription	Placenta	Placenta
10	chr15:41059200-41072400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr15:41059400-41066800	Weak transcription	K562	blood
12	chr15:41059600-41066600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr15:41059600-41066600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr15:41059600-41069000	Strong transcription	NHLF	lung
15	chr15:41059800-41066200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr15:41059800-41072600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr15:41060000-41072800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr15:41062200-41069400	Strong transcription	Aorta	Aorta
19	chr15:41062200-41072600	Strong transcription	Cortex derived primary cultured neurospheres	brain
20	chr15:41062200-41072600	Strong transcription	Fetal Brain Female	brain
21	chr15:41062200-41072600	Strong transcription	Right Ventricle	heart
22	chr15:41062200-41072600	Strong transcription	Stomach Smooth Muscle	stomach
23	chr15:41062200-41072800	Strong transcription	Fetal Stomach	stomach
24	chr15:41062400-41066400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr15:41062400-41067000	Weak transcription	Fetal Brain Male	brain
26	chr15:41062400-41068800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr15:41062400-41068800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr15:41062400-41069800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr15:41062400-41072600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr15:41062400-41079400	Weak transcription	Right Atrium	heart
31	chr15:41062600-41068600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr15:41062600-41068800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr15:41062600-41068800	Weak transcription	NH-A	brain
34	chr15:41062600-41072400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr15:41062600-41072600	Strong transcription	Primary neutrophils fromperipheralblood	blood
36	chr15:41062600-41072600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr15:41062600-41072600	Strong transcription	Brain Germinal Matrix	brain
38	chr15:41062600-41079000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr15:41062800-41066400	Weak transcription	HUVEC	blood vessel
40	chr15:41062800-41068600	Strong transcription	Skeletal Muscle Female	skeletal muscle
41	chr15:41062800-41069400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr15:41062800-41072600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr15:41062800-41072600	Strong transcription	Spleen	Spleen
44	chr15:41062800-41072600	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr15:41063000-41068800	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr15:41063000-41072400	Strong transcription	Brain Inferior Temporal Lobe	brain
47	chr15:41063000-41072600	Strong transcription	Primary monocytes fromperipheralblood	blood
48	chr15:41063200-41066600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr15:41063200-41067600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr15:41063200-41067600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links