Variant report

Variant	rs74061027
Chromosome Location	chr14:70494538-70494539
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:70284942..70286124-chr14:70494176..70496165,29	MCF-7	breast:
2	chr14:70286691..70287321-chr14:70494272..70494975,2	MCF-7	breast:
3	chr14:70343652..70344929-chr14:70494172..70494990,6	MCF-7	breast:
4	chr14:70492362..70495132-chr14:70501110..70503628,2	K562	blood:
5	chr14:70480962..70481548-chr14:70494329..70495228,2	K562	blood:
6	chr14:70489634..70491460-chr14:70492920..70494624,2	MCF-7	breast:
7	chr14:70284132..70286001-chr14:70493432..70495092,2	MCF-7	breast:
8	chr14:70197681..70198585-chr14:70494474..70495292,3	MCF-7	breast:
9	chr14:70284953..70286076-chr14:70493863..70495399,6	K562	blood:
10	chr14:70487128..70490716-chr14:70493782..70497437,5	MCF-7	breast:
11	chr14:70314565..70316766-chr14:70494055..70496568,2	MCF-7	breast:
12	chr14:70343101..70344065-chr14:70494201..70495179,2	MCF-7	breast:
13	chr14:70482647..70484897-chr14:70494365..70496259,2	MCF-7	breast:
14	chr14:70284835..70286537-chr14:70493931..70495236,17	MCF-7	breast:
15	chr14:70329512..70332305-chr14:70492102..70494618,2	MCF-7	breast:
16	chr14:70479979..70480909-chr14:70494262..70494803,2	MCF-7	breast:

No data

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

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

rs_ID	r²[population]
rs56290405	1.00[AMR][1000 genomes]
rs57139172	1.00[AMR][1000 genomes]
rs57510137	1.00[AMR][1000 genomes]
rs59918631	1.00[AMR][1000 genomes]
rs61253398	1.00[AMR][1000 genomes]
rs61382738	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61612924	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060661	1.00[AMR][1000 genomes]
rs74060662	1.00[AMR][1000 genomes]
rs74060663	1.00[AMR][1000 genomes]
rs74060665	1.00[AMR][1000 genomes]
rs74060677	1.00[AMR][1000 genomes]
rs74060680	1.00[AMR][1000 genomes]
rs74061016	1.00[AMR][1000 genomes]
rs74061017	1.00[AMR][1000 genomes]
rs74061030	1.00[AFR][1000 genomes];1.00[AMR][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	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
2	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
3	nsv832824	chr14:70320639-70511401	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
4	nsv817638	chr14:70489680-70500973	Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70476000-70500000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr14:70476200-70499000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:70485800-70495600	Weak transcription	Right Atrium	heart
4	chr14:70485800-70497600	Strong transcription	Hela-S3	cervix
5	chr14:70485800-70498400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr14:70486000-70496200	Weak transcription	Pancreas	Pancrea
7	chr14:70486000-70500400	Weak transcription	Aorta	Aorta
8	chr14:70486400-70502800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr14:70486600-70498200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr14:70487800-70498400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr14:70488000-70498600	Weak transcription	Gastric	stomach
12	chr14:70489000-70499200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr14:70490200-70499200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr14:70490600-70495000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr14:70490600-70498600	Weak transcription	NHEK	skin
16	chr14:70491400-70498600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr14:70492200-70499400	Weak transcription	Brain Germinal Matrix	brain
18	chr14:70492400-70496600	Weak transcription	Fetal Brain Female	brain
19	chr14:70493200-70495400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr14:70493200-70496400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr14:70493400-70495400	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr14:70493800-70499000	Weak transcription	HepG2	liver
23	chr14:70494200-70494600	Enhancers	Brain Substantia Nigra	brain
24	chr14:70494200-70499600	Weak transcription	Spleen	Spleen
25	chr14:70494200-70499800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr14:70494400-70494600	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr14:70494400-70494600	Enhancers	Brain Hippocampus Middle	brain
28	chr14:70494400-70494600	Enhancers	Fetal Stomach	stomach
29	chr14:70494400-70494800	Genic enhancers	Liver	Liver
30	chr14:70494400-70497800	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr14:70494400-70500200	Strong transcription	Cortex derived primary cultured neurospheres	brain
32	chr14:70494400-70500400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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