Variant report

Variant	rs60072996
Chromosome Location	chr15:43425031-43425032
allele	C/T
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	CEBPB	chr15:43424899-43425949	Hela-S3	cervix:	n/a	chr15:43425039-43425050
2	CEBPB	chr15:43424931-43425208	K562	blood:	n/a	chr15:43425039-43425050
3	NR2F2	chr15:43425015-43426066	K562	blood:	n/a	n/a
4	ARID3A	chr15:43424959-43425100	K562	blood:	n/a	n/a
5	BRCA1	chr15:43424722-43425096	Hela-S3	cervix:	n/a	n/a
6	HCFC1	chr15:43424801-43426706	Hela-S3	cervix:	n/a	n/a
7	CEBPB	chr15:43424973-43425186	A549	lung:	n/a	chr15:43425039-43425050
8	E2F4	chr15:43424922-43425213	MCF10A-Er-Src	breast:	n/a	n/a
9	CEBPB	chr15:43424921-43425135	HepG2	liver:	n/a	chr15:43425039-43425050
10	HEY1	chr15:43425005-43426173	HepG2	liver:	n/a	chr15:43425870-43425885

No.	Distal block	Cell Line	Cell type
1	chr15:43412581..43417001-chr15:43422670..43429913,10	K562	blood:
2	chr15:43406517..43409330-chr15:43424584..43426379,2	MCF-7	breast:
3	chr15:43424637..43426187-chr15:43437128..43439640,2	K562	blood:
4	chr15:43411554..43416767-chr15:43424269..43426823,6	K562	blood:
5	chr15:43424880..43427064-chr15:51913097..51915072,2	MCF-7	breast:
6	chr15:43424687..43428034-chr15:43433131..43438698,7	K562	blood:

Variant related genes	Relation type
TMEM62	TF binding region
ENSG00000137842	Chromatin interaction
ENSG00000205871	Chromatin interaction
ENSG00000104093	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs61125833	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525461	chr15:43062548-43482127	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
2	nsv1044522	chr15:43115348-43658417	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv515876	chr15:43116906-43445305	Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv569240	chr15:43201109-43445305	Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv569241	chr15:43201109-43522922	Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv569242	chr15:43210030-43445305	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
7	nsv904136	chr15:43257475-43482127	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
8	nsv904139	chr15:43268970-43482127	Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
9	nsv1044508	chr15:43270637-43658417	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
10	nsv904144	chr15:43276345-43482127	Bivalent/Poised TSS Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
11	esv1802035	chr15:43370916-43487742	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
12	nsv974566	chr15:43423478-43426186	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43415600-43425200	Weak transcription	Gastric	stomach
2	chr15:43415800-43425200	Weak transcription	Esophagus	oesophagus
3	chr15:43418400-43425200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr15:43424800-43425400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr15:43424800-43425400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
6	chr15:43424800-43425600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr15:43424800-43426600	Active TSS	K562	blood
8	chr15:43424800-43426800	Active TSS	A549	lung
9	chr15:43425000-43425200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr15:43425000-43425200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr15:43425000-43425200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr15:43425000-43425200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
13	chr15:43425000-43425200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
14	chr15:43425000-43425200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr15:43425000-43425200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr15:43425000-43425200	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr15:43425000-43425200	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr15:43425000-43425200	Enhancers	Primary B cells from cord blood	blood
19	chr15:43425000-43425200	Enhancers	Primary B cells from peripheral blood	blood
20	chr15:43425000-43425200	Enhancers	Primary T cells fromperipheralblood	blood
21	chr15:43425000-43425200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr15:43425000-43425200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr15:43425000-43425200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr15:43425000-43425200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr15:43425000-43425200	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr15:43425000-43425200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr15:43425000-43425200	Enhancers	Muscle Satellite Cultured Cells	--
28	chr15:43425000-43425200	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr15:43425000-43425200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr15:43425000-43425200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
31	chr15:43425000-43425200	Enhancers	Aorta	Aorta
32	chr15:43425000-43425200	Flanking Active TSS	Brain Anterior Caudate	brain
33	chr15:43425000-43425200	Enhancers	Brain Germinal Matrix	brain
34	chr15:43425000-43425200	Enhancers	Colon Smooth Muscle	Colon
35	chr15:43425000-43425200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr15:43425000-43425200	Flanking Active TSS	Fetal Intestine Small	intestine
37	chr15:43425000-43425200	Enhancers	Fetal Muscle Trunk	muscle
38	chr15:43425000-43425200	Enhancers	Fetal Muscle Leg	muscle
39	chr15:43425000-43425200	Bivalent/Poised TSS	Fetal Stomach	stomach
40	chr15:43425000-43425200	Bivalent Enhancer	Fetal Thymus	thymus
41	chr15:43425000-43425200	Enhancers	Small Intestine	intestine
42	chr15:43425000-43425200	Enhancers	Stomach Mucosa	stomach
43	chr15:43425000-43425200	Enhancers	Thymus	Thymus
44	chr15:43425000-43425200	Flanking Active TSS	Hela-S3	cervix
45	chr15:43425000-43425200	Active TSS	HSMM	muscle
46	chr15:43425000-43425200	Enhancers	HUVEC	blood vessel
47	chr15:43425000-43425200	Enhancers	NH-A	brain
48	chr15:43425000-43425200	Flanking Active TSS	Osteobl	bone
49	chr15:43425000-43425400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr15:43425000-43425400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links