Variant report

Variant	rs60621152
Chromosome Location	chr14:69395020-69395021
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:69385464..69388113-chr14:69393207..69396129,2	K562	blood:
2	chr14:69393526..69396798-chr14:69399350..69401820,3	K562	blood:
3	chr14:69390453..69396616-chr14:69408232..69413432,8	MCF-7	breast:
4	chr14:69394801..69397631-chr14:69439389..69441404,2	MCF-7	breast:
5	chr14:69385491..69387674-chr14:69394991..69396604,2	MCF-7	breast:
6	chr14:69392307..69395175-chr14:69395494..69398200,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000072110	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10146893	0.98[EUR][1000 genomes]
rs11848042	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4899274	0.98[EUR][1000 genomes]
rs7144460	0.98[EUR][1000 genomes]

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:115 , 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	chr14:69372400-69404400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr14:69376000-69395400	Weak transcription	Brain Angular Gyrus	brain
4	chr14:69378800-69402400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr14:69385600-69402800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr14:69387000-69402600	Weak transcription	K562	blood
7	chr14:69387400-69420400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr14:69387800-69405600	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr14:69389400-69397400	Strong transcription	Muscle Satellite Cultured Cells	--
10	chr14:69389600-69404400	Weak transcription	Psoas Muscle	Psoas
11	chr14:69390000-69397800	Weak transcription	Brain Anterior Caudate	brain
12	chr14:69390000-69402200	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr14:69390000-69404400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr14:69390200-69402400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr14:69391600-69396400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr14:69391800-69397800	Strong transcription	HSMM	muscle
17	chr14:69391800-69403600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr14:69392400-69395800	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr14:69392400-69397800	Weak transcription	NHDF-Ad	bronchial
20	chr14:69392400-69404400	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr14:69392400-69404400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr14:69392600-69396000	Weak transcription	Colonic Mucosa	Colon
23	chr14:69392600-69397600	Weak transcription	HSMMtube	muscle
24	chr14:69392600-69400600	Weak transcription	HUVEC	blood vessel
25	chr14:69392800-69396400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr14:69392800-69406200	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr14:69393200-69400600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
28	chr14:69393400-69397600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr14:69393400-69398000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr14:69393400-69404200	Weak transcription	Duodenum Mucosa	Duodenum
31	chr14:69393400-69404400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr14:69393600-69406400	Weak transcription	Hela-S3	cervix
33	chr14:69393800-69399400	Strong transcription	NHEK	skin
34	chr14:69393800-69401000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr14:69393800-69401200	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr14:69393800-69404400	Weak transcription	Thymus	Thymus
37	chr14:69393800-69405000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr14:69393800-69405800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr14:69394000-69395600	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr14:69394000-69396600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr14:69394000-69396600	Enhancers	Fetal Thymus	thymus
42	chr14:69394000-69396800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr14:69394000-69396800	Enhancers	Primary T helper cells PMA-I stimulated	--
44	chr14:69394000-69396800	Enhancers	Gastric	stomach
45	chr14:69394000-69404400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr14:69394200-69395400	Enhancers	Colon Smooth Muscle	Colon
47	chr14:69394200-69395800	Enhancers	Right Atrium	heart
48	chr14:69394200-69396200	Enhancers	Primary hematopoietic stem cells	blood
49	chr14:69394200-69396200	Enhancers	Esophagus	oesophagus
50	chr14:69394200-69396200	Enhancers	Rectal Smooth Muscle	rectum

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