Variant report

Variant	rs28464878
Chromosome Location	chr14:39842747-39842748
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	chr14:39834152..39839984-chr14:39840314..39846059,5	MCF-7	breast:
2	chr14:39643516..39645871-chr14:39842730..39845557,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100941	Chromatin interaction
ENSG00000271424	Chromatin interaction
ENSG00000259083	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs17621388	0.82[ASN][1000 genomes]
rs8014839	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8015094	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1037183	chr14:39736939-39949233	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv542048	chr14:39736939-39949233	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39757400-39843800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr14:39770800-39872400	Weak transcription	Colonic Mucosa	Colon
3	chr14:39794400-39843200	Weak transcription	HUVEC	blood vessel
4	chr14:39803000-39845800	Weak transcription	NHEK	skin
5	chr14:39803200-39843400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr14:39803200-39845800	Weak transcription	Brain Cingulate Gyrus	brain
7	chr14:39803400-39843800	Weak transcription	HMEC	breast
8	chr14:39812200-39845800	Weak transcription	Stomach Mucosa	stomach
9	chr14:39816800-39843200	Weak transcription	Hela-S3	cervix
10	chr14:39816800-39850200	Weak transcription	Fetal Kidney	kidney
11	chr14:39817400-39843800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr14:39818800-39845200	Weak transcription	Placenta	Placenta
13	chr14:39818800-39867200	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr14:39826000-39843200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr14:39834000-39851600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr14:39834600-39846000	Weak transcription	Primary hematopoietic stem cells	blood
17	chr14:39834600-39851600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr14:39834800-39846000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr14:39835000-39851600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr14:39835200-39851600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr14:39835400-39851400	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr14:39835400-39872400	Weak transcription	Fetal Muscle Leg	muscle
23	chr14:39836000-39845600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr14:39836200-39872800	Weak transcription	Esophagus	oesophagus
25	chr14:39836400-39870600	Weak transcription	Gastric	stomach
26	chr14:39836600-39843400	Weak transcription	NH-A	brain
27	chr14:39836600-39845800	Weak transcription	Right Atrium	heart
28	chr14:39836600-39852600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr14:39836800-39845800	Weak transcription	Brain Anterior Caudate	brain
30	chr14:39836800-39845800	Weak transcription	Right Ventricle	heart
31	chr14:39837000-39852600	Weak transcription	Primary T cells from cord blood	blood
32	chr14:39837600-39845800	Weak transcription	Brain Angular Gyrus	brain
33	chr14:39837600-39845800	Weak transcription	Colon Smooth Muscle	Colon
34	chr14:39837600-39845800	Weak transcription	Fetal Heart	heart
35	chr14:39837600-39845800	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr14:39837600-39846000	Weak transcription	Brain Hippocampus Middle	brain
37	chr14:39837600-39846000	Weak transcription	HSMMtube	muscle
38	chr14:39837800-39845800	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr14:39837800-39851600	Weak transcription	Dnd41	blood
40	chr14:39838400-39845600	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr14:39838600-39845800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr14:39838600-39850800	Weak transcription	Fetal Thymus	thymus
43	chr14:39838800-39845600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr14:39838800-39845800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr14:39839000-39845800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr14:39839800-39850000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr14:39840000-39844000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr14:39840000-39845800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr14:39840000-39845800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr14:39840000-39845800	Weak transcription	Adipose Nuclei	Adipose

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links