Variant report

Variant	rs16903633
Chromosome Location	chr5:14677019-14677020
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr5:14676957-14677049	H1-hESC	embryonic stem cell:	n/a	n/a
2	MYC	chr5:14675975-14677029	K562	blood:	n/a	n/a
3	ZNF384	chr5:14676996-14677032	GM12878	blood:	n/a	n/a
4	MTA3	chr5:14675560-14677053	GM12878	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:14675013..14677117-chr5:14685914..14688282,2	MCF-7	breast:
2	chr5:14448785..14450697-chr5:14676194..14678624,2	MCF-7	breast:
3	chr5:14667600..14670326-chr5:14676712..14678274,2	K562	blood:
4	chr5:14672451..14674258-chr5:14675048..14677621,3	K562	blood:
5	chr5:14666399..14668895-chr5:14676273..14677945,2	MCF-7	breast:
6	chr5:14674501..14677095-chr5:14686339..14688159,2	K562	blood:
7	chr5:14663431..14670152-chr5:14672054..14680588,17	K562	blood:

No data

Variant related genes	Relation type
FAM105B	TF binding region
ENSG00000154124	Chromatin interaction
ENSG00000261360	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs16903642	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16903643	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16903653	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6870540	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6870801	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6879028	1.00[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	nsv1026914	chr5:14237782-14751588	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1018187	chr5:14385164-15127103	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	esv1801565	chr5:14671030-14684471	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14666400-14678200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr5:14666400-14681600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr5:14666400-14688200	Weak transcription	Ovary	ovary
4	chr5:14666600-14688200	Weak transcription	Brain Germinal Matrix	brain
5	chr5:14667000-14680000	Weak transcription	Fetal Brain Female	brain
6	chr5:14667000-14681200	Weak transcription	Brain Cingulate Gyrus	brain
7	chr5:14667000-14690400	Weak transcription	Fetal Brain Male	brain
8	chr5:14668600-14677200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr5:14669400-14677200	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr5:14672000-14684200	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr5:14672200-14690400	Strong transcription	Hela-S3	cervix
12	chr5:14672600-14678400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr5:14672800-14679200	Weak transcription	HUVEC	blood vessel
14	chr5:14673000-14678200	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr5:14673000-14679200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr5:14673000-14679200	Weak transcription	Rectal Smooth Muscle	rectum
17	chr5:14673000-14681400	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr5:14673200-14681400	Weak transcription	Brain Angular Gyrus	brain
19	chr5:14673800-14677200	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
20	chr5:14673800-14679000	Weak transcription	A549	lung
21	chr5:14673800-14690000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:14674000-14712800	Strong transcription	Fetal Intestine Large	intestine
23	chr5:14674200-14679200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr5:14674400-14677400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr5:14674600-14679200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr5:14674600-14681400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr5:14674600-14687200	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr5:14674600-14688400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr5:14674600-14695600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr5:14674800-14677600	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr5:14675200-14677600	Enhancers	HMEC	breast
32	chr5:14675200-14695800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr5:14675400-14677400	Enhancers	Fetal Thymus	thymus
34	chr5:14675400-14678200	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr5:14675600-14677200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
36	chr5:14675600-14682200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr5:14675800-14679200	Weak transcription	Brain Anterior Caudate	brain
38	chr5:14675800-14679200	Weak transcription	Colon Smooth Muscle	Colon
39	chr5:14675800-14680600	Enhancers	Fetal Heart	heart
40	chr5:14675800-14685400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr5:14676000-14677200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr5:14676000-14677200	Enhancers	HSMMtube	muscle
43	chr5:14676000-14678800	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr5:14676000-14682000	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr5:14676200-14679000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr5:14676200-14681600	Weak transcription	Brain Substantia Nigra	brain
47	chr5:14676400-14677600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr5:14676400-14677600	Enhancers	Primary B cells from peripheral blood	blood
49	chr5:14676400-14678600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr5:14676600-14677200	Strong transcription	Fetal Muscle Leg	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links