Variant report

Variant	rs61981587
Chromosome Location	chr14:69392985-69392986
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:19 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TRIM28	chr14:69392949-69393274	K562	blood:	n/a	chr14:69393209-69393217
2	CTCF	chr14:69392960-69393247	K562	blood:	n/a	n/a
3	CTCF	chr14:69392960-69393110	HFF	foreskin:	n/a	n/a
4	CTCF	chr14:69392960-69393294	IMR90	lung:	n/a	n/a
5	ZNF143	chr14:69392964-69393260	H1-hESC	embryonic stem cell:	n/a	n/a
6	CBX3	chr14:69392824-69393367	HCT-116	colon:	n/a	n/a
7	RAD21	chr14:69392900-69393308	ECC-1	luminal epithelium:	n/a	n/a
8	CTCF	chr14:69392887-69393293	H1-hESC	embryonic stem cell:	n/a	n/a
9	RAD21	chr14:69392902-69393355	H1-hESC	embryonic stem cell:	n/a	n/a
10	GATA3	chr14:69392845-69393255	T-47D	breast:	n/a	chr14:69392965-69392974
11	SETDB1	chr14:69392888-69393375	U2OS	brain:	n/a	n/a
12	CBX3	chr14:69392964-69393248	K562	blood:	n/a	n/a
13	RAD21	chr14:69392952-69393287	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr14:69392731-69393902	A549	lung:	n/a	n/a
15	KAP1	chr14:69392757-69393289	K562	blood:	n/a	chr14:69393209-69393217
16	CTCF	chr14:69392860-69393010	NHDF-neo	bronchial:	n/a	n/a
17	RAD21	chr14:69392976-69393319	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr14:69392860-69393090	A549	lung:	n/a	n/a
19	CBX3	chr14:69392910-69393214	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr14:69391196..69393563-chr14:69405048..69407847,2	MCF-7	breast:
2	chr14:69388864..69393027-chr14:69403394..69408215,5	MCF-7	breast:
3	chr14:69378571..69380525-chr14:69392033..69394112,2	K562	blood:
4	chr14:69385888..69393669-chr14:69442988..69447287,14	MCF-7	breast:
5	chr14:69392677..69394471-chr14:69400892..69402453,2	MCF-7	breast:
6	chr14:69390453..69396616-chr14:69408232..69413432,8	MCF-7	breast:
7	chr14:69392307..69395175-chr14:69395494..69398200,3	MCF-7	breast:

No data

Variant related genes	Relation type
ACTN1	TF binding region
ENSG00000259062	Chromatin interaction
ENSG00000072110	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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	nsv832823	chr14:69388853-69567638	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv564964	chr14:69392264-69423164	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	nsv456333	chr14:69392445-69415962	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv564965	chr14:69392445-69415962	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69337400-69404400	Weak transcription	Fetal Brain Male	brain
2	chr14:69339200-69394600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr14:69345800-69394800	Weak transcription	Small Intestine	intestine
4	chr14:69354000-69393200	Strong transcription	NHEK	skin
5	chr14:69354600-69393000	Strong transcription	Dnd41	blood
6	chr14:69362600-69393400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr14:69372400-69404400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr14:69376000-69395400	Weak transcription	Brain Angular Gyrus	brain
9	chr14:69378800-69394000	Weak transcription	Stomach Mucosa	stomach
10	chr14:69378800-69402400	Weak transcription	Brain Cingulate Gyrus	brain
11	chr14:69382000-69394200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr14:69385200-69393200	Strong transcription	Cortex derived primary cultured neurospheres	brain
13	chr14:69385600-69402800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr14:69387000-69395000	Weak transcription	Fetal Kidney	kidney
15	chr14:69387000-69402600	Weak transcription	K562	blood
16	chr14:69387400-69420400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr14:69387800-69394600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr14:69387800-69405600	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr14:69388000-69393000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr14:69388200-69393000	Weak transcription	Duodenum Mucosa	Duodenum
21	chr14:69388400-69393200	Genic enhancers	HMEC	breast
22	chr14:69389200-69394200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr14:69389400-69393000	Strong transcription	HUES48 Cell Line	embryonic stem cell
24	chr14:69389400-69394000	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr14:69389400-69397400	Strong transcription	Muscle Satellite Cultured Cells	--
26	chr14:69389600-69404400	Weak transcription	Psoas Muscle	Psoas
27	chr14:69390000-69393000	Strong transcription	Fetal Intestine Large	intestine
28	chr14:69390000-69397800	Weak transcription	Brain Anterior Caudate	brain
29	chr14:69390000-69402200	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr14:69390000-69404400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr14:69390200-69394000	Weak transcription	Aorta	Aorta
32	chr14:69390200-69402400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr14:69391400-69394000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr14:69391600-69393000	Strong transcription	A549	lung
35	chr14:69391600-69393800	ZNF genes & repeats	Spleen	Spleen
36	chr14:69391600-69394400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr14:69391600-69395000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr14:69391600-69396400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr14:69391800-69393400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr14:69391800-69394200	Weak transcription	Right Atrium	heart
41	chr14:69391800-69394800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr14:69391800-69395000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr14:69391800-69397800	Strong transcription	HSMM	muscle
44	chr14:69391800-69403600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr14:69392000-69393200	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr14:69392000-69393600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr14:69392000-69394000	Strong transcription	NH-A	brain
48	chr14:69392000-69394600	Strong transcription	Fetal Stomach	stomach
49	chr14:69392000-69394600	Strong transcription	Osteobl	bone
50	chr14:69392000-69394800	Weak transcription	Fetal Heart	heart

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