Variant report

Variant	rs28744614
Chromosome Location	chr4:99577712-99577713
allele	C/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	RCOR1	chr4:99577675-99581955	IMR90	lung:	n/a	n/a
4	REST	chr4:99577373-99580795	H1-neurons	neurons:	n/a	chr4:99580193-99580206 chr4:99580562-99580571

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: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12503720	0.82[ASN][1000 genomes]
rs12507328	0.84[AFR][1000 genomes]
rs61519543	0.86[ASN][1000 genomes]
rs871474	0.86[ASN][1000 genomes]
rs9790846	0.85[EUR][1000 genomes];0.83[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:86 , 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	chr4:99575400-99577800	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr4:99575400-99578200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr4:99575400-99578200	Weak transcription	Left Ventricle	heart
7	chr4:99575600-99578200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr4:99575800-99578200	Weak transcription	A549	lung
9	chr4:99576000-99577800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
10	chr4:99576000-99578000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr4:99576200-99578200	Flanking Active TSS	Osteobl	bone
12	chr4:99576600-99578000	Enhancers	Primary T cells fromperipheralblood	blood
13	chr4:99576600-99578000	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr4:99576600-99578000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr4:99576600-99578000	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr4:99576600-99578200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr4:99576600-99578400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr4:99576600-99578400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr4:99576600-99578600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
20	chr4:99576600-99578600	Flanking Active TSS	HUVEC	blood vessel
21	chr4:99576600-99580800	Weak transcription	Hela-S3	cervix
22	chr4:99576800-99578000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
23	chr4:99576800-99578000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
24	chr4:99576800-99578000	Enhancers	Thymus	Thymus
25	chr4:99576800-99578200	Flanking Active TSS	HMEC	breast
26	chr4:99576800-99578400	Flanking Active TSS	NHEK	skin
27	chr4:99576800-99578600	Flanking Active TSS	Brain Anterior Caudate	brain
28	chr4:99576800-99580400	Active TSS	NHLF	lung
29	chr4:99577000-99577800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr4:99577000-99577800	Enhancers	Fetal Heart	heart
31	chr4:99577000-99578200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
32	chr4:99577000-99578200	Enhancers	Fetal Thymus	thymus
33	chr4:99577000-99578200	Bivalent Enhancer	Stomach Mucosa	stomach
34	chr4:99577000-99578600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr4:99577000-99580400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr4:99577200-99577800	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr4:99577200-99578000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
38	chr4:99577200-99578000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
39	chr4:99577200-99578400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
40	chr4:99577200-99578800	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr4:99577200-99580600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr4:99577200-99580600	Active TSS	Brain Angular Gyrus	brain
43	chr4:99577200-99580600	Active TSS	NHDF-Ad	bronchial
44	chr4:99577400-99577800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
45	chr4:99577400-99577800	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr4:99577400-99578000	Active TSS	Rectal Mucosa Donor 29	rectum
47	chr4:99577400-99578200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr4:99577400-99578600	Flanking Active TSS	Fetal Stomach	stomach
49	chr4:99577400-99578800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr4:99577400-99579400	Active TSS	Fetal Brain Male	brain

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