Variant report

Variant	rs74018248
Chromosome Location	chr16:48160665-48160666
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:48160028..48160849-chr16:48189962..48191269,4	MCF-7	breast:
2	chr16:48155501..48157445-chr16:48159306..48161176,2	MCF-7	breast:
3	chr16:47176198..47179127-chr16:48158467..48161279,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000260281	Chromatin interaction
ENSG00000171208	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs58488427	1.00[AMR][1000 genomes]
rs58567530	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59029650	1.00[AMR][1000 genomes]
rs59615693	1.00[AMR][1000 genomes]
rs59728440	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60460102	1.00[AMR][1000 genomes]
rs61380353	1.00[AMR][1000 genomes]
rs61692943	1.00[AMR][1000 genomes]
rs73540863	0.84[AFR][1000 genomes]
rs73540867	0.87[AFR][1000 genomes]
rs74018244	0.81[AFR][1000 genomes]
rs74018246	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74018247	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv520355	chr16:47424828-48164777	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1059259	chr16:48113396-48304404	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv542916	chr16:48113396-48304404	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:48155200-48163200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr16:48156400-48163000	Enhancers	NH-A	brain
3	chr16:48156400-48163200	Enhancers	HSMM	muscle
4	chr16:48156400-48163400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr16:48157600-48160800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr16:48157800-48160800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr16:48158000-48160800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr16:48158000-48161200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr16:48158200-48160800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr16:48158200-48161800	Enhancers	Left Ventricle	heart
11	chr16:48158600-48161200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr16:48158600-48161200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr16:48159000-48162600	Enhancers	Fetal Muscle Leg	muscle
14	chr16:48159000-48164000	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr16:48159200-48161400	Enhancers	Adipose Nuclei	Adipose
16	chr16:48159200-48161600	Enhancers	Right Ventricle	heart
17	chr16:48159400-48160800	Enhancers	Fetal Lung	lung
18	chr16:48159400-48161800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr16:48159600-48160800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr16:48159800-48163200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr16:48159800-48164000	Enhancers	Osteobl	bone
22	chr16:48160200-48161600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr16:48160200-48161600	Enhancers	Fetal Muscle Trunk	muscle
24	chr16:48160200-48163000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr16:48160200-48163400	Enhancers	Muscle Satellite Cultured Cells	--
26	chr16:48160400-48161000	Flanking Active TSS	A549	lung
27	chr16:48160400-48161600	Enhancers	Stomach Mucosa	stomach
28	chr16:48160400-48163000	Enhancers	NHLF	lung
29	chr16:48160400-48163400	Enhancers	HSMMtube	muscle
30	chr16:48160400-48163400	Enhancers	NHDF-Ad	bronchial
31	chr16:48160600-48161000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr16:48160600-48161000	Enhancers	Lung	lung
33	chr16:48160600-48161200	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr16:48160600-48161400	Enhancers	Esophagus	oesophagus
35	chr16:48160600-48161400	Enhancers	Hela-S3	cervix
36	chr16:48160600-48161600	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr16:48160600-48161600	Enhancers	Gastric	stomach
38	chr16:48160600-48161600	Enhancers	Right Atrium	heart
39	chr16:48160600-48161600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
40	chr16:48160600-48161600	Enhancers	HMEC	breast
41	chr16:48160600-48161600	Enhancers	NHEK	skin
42	chr16:48160600-48161800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr16:48160600-48161800	Enhancers	HUVEC	blood vessel
44	chr16:48160600-48163400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr16:48160600-48163400	Enhancers	Psoas Muscle	Psoas
46	chr16:48160600-48163600	Enhancers	Pancreas	Pancrea

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links