Variant report

Variant	rs61375261
Chromosome Location	chr15:40242711-40242712
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:40242680-40242744	ProgFib	skin:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:40226223..40227908-chr15:40241958..40244363,2	MCF-7	breast:

Variant related genes	Relation type
EIF2AK4	TF binding region
ENSG00000238564	TF binding region
ENSG00000128829	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs17848500	1.00[AMR][1000 genomes]
rs56246581	0.81[AFR][1000 genomes]
rs59551980	0.81[AFR][1000 genomes]
rs61490790	0.81[AFR][1000 genomes]
rs74009009	0.81[AFR][1000 genomes]
rs74009010	0.95[AFR][1000 genomes]
rs74009078	0.81[AFR][1000 genomes]
rs74009081	0.95[AFR][1000 genomes]
rs74011703	1.00[AMR][1000 genomes]
rs74011718	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74011719	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74011721	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74011722	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530816	chr15:40003136-40586792	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv832983	chr15:40098766-40248839	Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv974559	chr15:40241861-40243776	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40227200-40247800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr15:40227200-40248200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr15:40227200-40268400	Weak transcription	Esophagus	oesophagus
4	chr15:40227400-40283400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr15:40227800-40247000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr15:40227800-40268400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr15:40228200-40323800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr15:40228600-40246000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr15:40230000-40263000	Strong transcription	Fetal Muscle Trunk	muscle
10	chr15:40230200-40255600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr15:40230400-40261600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr15:40230600-40252400	Weak transcription	Right Atrium	heart
13	chr15:40231000-40268400	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr15:40231400-40243400	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr15:40231800-40243400	Strong transcription	H1 Cell Line	embryonic stem cell
16	chr15:40231800-40252600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr15:40232000-40261400	Strong transcription	Skeletal Muscle Female	skeletal muscle
18	chr15:40232000-40262600	Strong transcription	Liver	Liver
19	chr15:40232200-40244600	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr15:40232200-40250200	Strong transcription	Sigmoid Colon	Sigmoid Colon
21	chr15:40232200-40252400	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr15:40232400-40252400	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr15:40232600-40251000	Strong transcription	Left Ventricle	heart
24	chr15:40232600-40251800	Strong transcription	Adipose Nuclei	Adipose
25	chr15:40233400-40248600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr15:40234800-40244200	Strong transcription	NHEK	skin
27	chr15:40235000-40245000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr15:40235000-40245400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr15:40235000-40263000	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr15:40235200-40243400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr15:40235200-40244200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr15:40236000-40255400	Strong transcription	Fetal Lung	lung
33	chr15:40236000-40260000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr15:40236400-40244200	Strong transcription	Dnd41	blood
35	chr15:40236600-40245600	Weak transcription	Rectal Smooth Muscle	rectum
36	chr15:40236600-40303000	Weak transcription	Small Intestine	intestine
37	chr15:40237800-40255600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr15:40238000-40243200	Weak transcription	Spleen	Spleen
39	chr15:40238000-40277800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr15:40238200-40243400	Weak transcription	Gastric	stomach
41	chr15:40238200-40245800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr15:40238200-40247000	Weak transcription	K562	blood
43	chr15:40238400-40243200	Weak transcription	Aorta	Aorta
44	chr15:40238400-40243600	Weak transcription	Brain Angular Gyrus	brain
45	chr15:40238600-40243000	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr15:40238600-40243600	Weak transcription	Psoas Muscle	Psoas
47	chr15:40238600-40244000	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr15:40238600-40268200	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr15:40238600-40272200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr15:40238800-40242800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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