Variant report

Variant	rs6446558
Chromosome Location	chr4:6985889-6985890
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:6985580-6985905	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr4:6985705-6986027	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr4:6974510..6976295-chr4:6983564..6986014,2	K562	blood:
2	chr4:6982427..6986274-chr4:6986915..6990126,4	MCF-7	breast:
3	chr4:6980739..6983289-chr4:6985192..6987029,3	K562	blood:
4	chr4:6985775..6987930-chr4:7003466..7005254,2	MCF-7	breast:
5	chr4:6964388..6966131-chr4:6985503..6987290,2	K562	blood:
6	chr4:6981170..6985080-chr4:6985804..6988739,4	MCF-7	breast:
7	chr4:6979186..6983074-chr4:6985701..6987912,3	K562	blood:

No data

Variant related genes	Relation type
TBC1D14	TF binding region
ENSG00000132405	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10937773	0.88[AFR][1000 genomes]
rs10937775	1.00[AMR][1000 genomes]
rs13143427	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35375288	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4234792	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4327487	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4376137	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4423873	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4689058	0.82[AFR][1000 genomes]
rs6446554	0.82[AFR][1000 genomes]
rs6446555	0.88[AFR][1000 genomes]
rs6835187	1.00[AMR][1000 genomes]
rs6835407	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6835568	0.95[AFR][1000 genomes]
rs7689324	1.00[AFR][1000 genomes];1.00[AMR][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	nsv878530	chr4:6888932-7058473	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv34033	chr4:6973270-7390621	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:6965400-6987800	Weak transcription	Small Intestine	intestine
2	chr4:6968000-6987600	Weak transcription	HSMM	muscle
3	chr4:6969800-6986000	Weak transcription	Left Ventricle	heart
4	chr4:6970800-6987800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr4:6971600-6986400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:6972000-6986000	Weak transcription	Right Ventricle	heart
7	chr4:6972400-6986000	Weak transcription	Ovary	ovary
8	chr4:6976200-6987800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr4:6976400-6986000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr4:6976400-6986000	Weak transcription	Placenta	Placenta
11	chr4:6976400-6987800	Weak transcription	Fetal Thymus	thymus
12	chr4:6976600-6986000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr4:6976600-6986000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr4:6976600-6986000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr4:6976600-6986000	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr4:6976600-6986400	Weak transcription	A549	lung
17	chr4:6976600-6987000	Weak transcription	Fetal Kidney	kidney
18	chr4:6976600-6987400	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr4:6976600-6987600	Weak transcription	Thymus	Thymus
20	chr4:6976800-6986400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr4:6976800-6986600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr4:6978600-6986600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr4:6981200-6986000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr4:6981200-6986400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr4:6982200-6987200	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr4:6984000-6986400	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr4:6984400-6986000	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr4:6985000-6986200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr4:6985000-6986400	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr4:6985000-6986800	Enhancers	Primary B cells from cord blood	blood
31	chr4:6985000-6986800	Enhancers	Spleen	Spleen
32	chr4:6985000-6987800	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr4:6985000-6987800	Enhancers	Primary B cells from peripheral blood	blood
34	chr4:6985200-6986000	Flanking Active TSS	HUVEC	blood vessel
35	chr4:6985200-6986200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr4:6985200-6986200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr4:6985200-6986200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
38	chr4:6985200-6986400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr4:6985200-6986400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr4:6985200-6986800	Enhancers	Lung	lung
41	chr4:6985200-6986800	Enhancers	Psoas Muscle	Psoas
42	chr4:6985200-6987000	Enhancers	Primary hematopoietic stem cells	blood
43	chr4:6985200-6987200	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr4:6985200-6987200	Enhancers	K562	blood
45	chr4:6985200-6987400	Enhancers	Liver	Liver
46	chr4:6985200-6987400	Enhancers	Rectal Mucosa Donor 29	rectum
47	chr4:6985200-6987600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr4:6985200-6987800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr4:6985400-6986000	Enhancers	Brain Anterior Caudate	brain
50	chr4:6985400-6986000	Enhancers	Brain Cingulate Gyrus	brain

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