Variant report

Variant	rs4699664
Chromosome Location	chr4:99577845-99577846
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr4:99577479-99580600	IMR90	lung:	n/a	n/a
2	MXI1	chr4:99576467-99580748	SK-N-SH	brain:	n/a	n/a
3	MYC	chr4:99577819-99577946	H1-hESC	embryonic stem cell:	n/a	n/a
4	RCOR1	chr4:99577675-99581955	IMR90	lung:	n/a	n/a
5	REST	chr4:99577373-99580795	H1-neurons	neurons:	n/a	chr4:99580193-99580206 chr4:99580562-99580571
6	POLR2A	chr4:99577713-99580370	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:99575715..99578300-chr4:99579443..99581307,2	K562	blood:

Variant related genes	Relation type
ENSG00000260641	TF binding region
ENSG00000260641	Chromatin interaction
ENSG00000168785	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs1128478	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62325460	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv966532	chr4:99571460-99581225	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99569600-99578200	Weak transcription	Aorta	Aorta
2	chr4:99569600-99578400	Weak transcription	Spleen	Spleen
3	chr4:99572600-99578000	Weak transcription	Primary hematopoietic stem cells	blood
4	chr4:99575400-99578200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr4:99575400-99578200	Weak transcription	Left Ventricle	heart
6	chr4:99575600-99578200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr4:99575800-99578200	Weak transcription	A549	lung
8	chr4:99576000-99578000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr4:99576200-99578200	Flanking Active TSS	Osteobl	bone
10	chr4:99576600-99578000	Enhancers	Primary T cells fromperipheralblood	blood
11	chr4:99576600-99578000	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr4:99576600-99578000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr4:99576600-99578000	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr4:99576600-99578200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr4:99576600-99578400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
16	chr4:99576600-99578400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr4:99576600-99578600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
18	chr4:99576600-99578600	Flanking Active TSS	HUVEC	blood vessel
19	chr4:99576600-99580800	Weak transcription	Hela-S3	cervix
20	chr4:99576800-99578000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
21	chr4:99576800-99578000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
22	chr4:99576800-99578000	Enhancers	Thymus	Thymus
23	chr4:99576800-99578200	Flanking Active TSS	HMEC	breast
24	chr4:99576800-99578400	Flanking Active TSS	NHEK	skin
25	chr4:99576800-99578600	Flanking Active TSS	Brain Anterior Caudate	brain
26	chr4:99576800-99580400	Active TSS	NHLF	lung
27	chr4:99577000-99578200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
28	chr4:99577000-99578200	Enhancers	Fetal Thymus	thymus
29	chr4:99577000-99578200	Bivalent Enhancer	Stomach Mucosa	stomach
30	chr4:99577000-99578600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr4:99577000-99580400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr4:99577200-99578000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
33	chr4:99577200-99578000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
34	chr4:99577200-99578400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr4:99577200-99578800	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr4:99577200-99580600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr4:99577200-99580600	Active TSS	Brain Angular Gyrus	brain
38	chr4:99577200-99580600	Active TSS	NHDF-Ad	bronchial
39	chr4:99577400-99578000	Active TSS	Rectal Mucosa Donor 29	rectum
40	chr4:99577400-99578200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr4:99577400-99578600	Flanking Active TSS	Fetal Stomach	stomach
42	chr4:99577400-99578800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr4:99577400-99579400	Active TSS	Fetal Brain Male	brain
44	chr4:99577400-99580200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr4:99577400-99580400	Active TSS	Cortex derived primary cultured neurospheres	brain
46	chr4:99577400-99580400	Active TSS	HSMM	muscle
47	chr4:99577400-99580600	Active TSS	Brain Inferior Temporal Lobe	brain
48	chr4:99577400-99580800	Active TSS	Ovary	ovary
49	chr4:99577600-99578000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr4:99577600-99578000	Bivalent Enhancer	H9 Cell Line	embryonic stem cell

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