Variant report

Variant	rs74060273
Chromosome Location	chr14:70147212-70147213
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:70145783..70147481-chr14:70150839..70153157,2	K562	blood:
2	chr14:70145323..70149322-chr14:70149877..70152985,4	MCF-7	breast:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs17107167	0.84[AFR][1000 genomes]
rs55634075	1.00[AFR][1000 genomes]
rs56762756	0.83[AFR][1000 genomes]
rs58658815	0.84[AFR][1000 genomes]
rs61389585	1.00[AFR][1000 genomes]
rs61710255	1.00[AFR][1000 genomes]
rs74060254	0.84[AFR][1000 genomes]
rs74060255	0.84[AFR][1000 genomes]
rs74060260	1.00[AFR][1000 genomes]
rs74060265	0.83[AFR][1000 genomes]
rs74060266	1.00[AFR][1000 genomes]
rs74060268	1.00[AFR][1000 genomes]
rs74060275	0.83[AFR][1000 genomes]
rs74060276	1.00[AFR][1000 genomes]
rs74060279	1.00[AFR][1000 genomes]
rs74060287	1.00[AFR][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	nsv1049280	chr14:70036804-70172630	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv542124	chr14:70036804-70172630	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
4	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70130000-70148800	Weak transcription	NHEK	skin
2	chr14:70130200-70149000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr14:70133800-70148800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr14:70134000-70152400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr14:70137200-70148800	Weak transcription	K562	blood
6	chr14:70138200-70149000	Weak transcription	HMEC	breast
7	chr14:70138600-70147600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:70139800-70152000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr14:70140000-70149800	Weak transcription	Placenta	Placenta
10	chr14:70140600-70152200	Weak transcription	NHLF	lung
11	chr14:70141000-70149800	Weak transcription	Fetal Muscle Trunk	muscle
12	chr14:70141000-70150800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr14:70141200-70148800	Weak transcription	Esophagus	oesophagus
14	chr14:70141400-70149800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr14:70141600-70148200	Weak transcription	Spleen	Spleen
16	chr14:70141600-70149000	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr14:70141600-70149400	Weak transcription	Fetal Stomach	stomach
18	chr14:70141600-70149800	Weak transcription	Gastric	stomach
19	chr14:70141800-70152400	Weak transcription	Fetal Kidney	kidney
20	chr14:70142000-70149000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr14:70142200-70148600	Weak transcription	Stomach Mucosa	stomach
22	chr14:70142200-70148800	Weak transcription	Brain Substantia Nigra	brain
23	chr14:70142200-70149200	Weak transcription	Brain Cingulate Gyrus	brain
24	chr14:70142400-70148800	Weak transcription	Stomach Smooth Muscle	stomach
25	chr14:70142400-70149000	Weak transcription	Adipose Nuclei	Adipose
26	chr14:70142600-70149000	Weak transcription	Duodenum Mucosa	Duodenum
27	chr14:70142800-70148800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr14:70142800-70148800	Weak transcription	Brain Angular Gyrus	brain
29	chr14:70142800-70149800	Weak transcription	Thymus	Thymus
30	chr14:70143000-70148800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr14:70143000-70149200	Weak transcription	Brain Hippocampus Middle	brain
32	chr14:70143400-70148200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr14:70143400-70149000	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr14:70143800-70148200	Weak transcription	Left Ventricle	heart
35	chr14:70143800-70148600	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr14:70143800-70148800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr14:70143800-70149000	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr14:70143800-70149400	Weak transcription	Right Atrium	heart
39	chr14:70144000-70148800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr14:70144400-70151400	Weak transcription	Fetal Intestine Small	intestine
41	chr14:70144600-70147400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr14:70146000-70148400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr14:70146600-70151400	Enhancers	Primary T helper cells PMA-I stimulated	--
44	chr14:70146600-70153200	Enhancers	Colon Smooth Muscle	Colon
45	chr14:70146800-70147400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr14:70146800-70147400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr14:70146800-70147600	Genic enhancers	Primary monocytes fromperipheralblood	blood
48	chr14:70146800-70147600	Strong transcription	Primary B cells from cord blood	blood
49	chr14:70146800-70147600	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr14:70146800-70147600	Enhancers	Small Intestine	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links