Variant report

Variant	rs4476626
Chromosome Location	chr4:77998510-77998511
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:77998164-77998533	GM12878	blood:	n/a	n/a
2	POLR2A	chr4:77995313-77998511	GM12878	blood:	n/a	n/a
3	REST	chr4:77995249-77998833	H1-neurons	neurons:	n/a	chr4:77998477-77998487 chr4:77996948-77996961
4	POLR2A	chr4:77994126-77998765	GM12891	blood:	n/a	n/a
5	POLR2A	chr4:77998152-77998642	HepG2	liver:	n/a	n/a
6	POLR2A	chr4:77993635-77998531	MCF10A-Er-Src	breast:	n/a	n/a
7	EP300	chr4:77998214-77998525	GM12878	blood:	n/a	n/a
8	POLR2A	chr4:77996070-77998852	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr4:77994233-77998723	GM12878	blood:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:77997759..78000070-chr4:78123881..78125820,2	MCF-7	breast:
2	chr4:77993925..77999822-chr4:78072652..78081114,32	MCF-7	breast:
3	chr4:77994543..78000148-chr4:78076403..78082799,9	K562	blood:
4	chr4:77995405..77999334-chr4:78000731..78006327,9	MCF-7	breast:
5	chr4:77869773..77872075-chr4:77995627..77998726,3	K562	blood:
6	chr4:77994285..77999121-chr4:78003590..78007383,5	K562	blood:
7	chr4:77994107..77999899-chr4:78076204..78082875,32	MCF-7	breast:
8	chr4:77870359..77873653-chr4:77995177..77998877,4	MCF-7	breast:
9	chr4:77995650..77999094-chr4:78076501..78080726,6	K562	blood:
10	chr4:77975437..77978394-chr4:77996359..77998684,2	MCF-7	breast:
11	chr4:77979701..77986849-chr4:77990863..77998763,10	MCF-7	breast:
12	chr4:77996001..77999161-chr4:78070349..78073053,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SEPT11-2	chr4:77997130-77999849	NONHSAT097041

No data

Variant related genes	Relation type
CCNI	TF binding region
ENSG00000201641	Chromatin interaction
ENSG00000138758	Chromatin interaction
ENSG00000214062	Chromatin interaction
ENSG00000118816	Chromatin interaction
ENSG00000138764	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs17002342	1.00[AMR][1000 genomes]
rs17002354	1.00[AMR][1000 genomes]
rs4252749	1.00[AMR][1000 genomes]
rs4252775	1.00[AMR][1000 genomes]
rs4252791	1.00[AMR][1000 genomes]
rs4252812	1.00[AMR][1000 genomes]
rs4252859	1.00[AMR][1000 genomes]
rs4252934	1.00[AMR][1000 genomes]
rs4252939	1.00[AMR][1000 genomes]
rs4252944	1.00[AMR][1000 genomes]
rs4252945	1.00[AMR][1000 genomes]
rs57303670	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60458841	1.00[AMR][1000 genomes]
rs73826493	1.00[AMR][1000 genomes]
rs73826720	1.00[AMR][1000 genomes]
rs73826723	1.00[AMR][1000 genomes]
rs73829817	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7690082	1.00[AMR][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	nsv879499	chr4:77990904-78003416	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:77993800-77998600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr4:77994000-77998600	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr4:77994400-77998800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr4:77994400-77998800	Active TSS	Rectal Smooth Muscle	rectum
5	chr4:77994600-77998600	Active TSS	Stomach Smooth Muscle	stomach
6	chr4:77994600-77998800	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr4:77995000-77998600	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr4:77995400-77998600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr4:77995400-77998800	Active TSS	Brain Anterior Caudate	brain
10	chr4:77995800-77998600	Active TSS	Brain Hippocampus Middle	brain
11	chr4:77996000-77998800	Active TSS	Duodenum Mucosa	Duodenum
12	chr4:77996000-77998800	Active TSS	Skeletal Muscle Female	skeletal muscle
13	chr4:77997600-77998600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
14	chr4:77997600-77998800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
15	chr4:77997600-77998800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr4:77997800-77998600	Active TSS	Rectal Mucosa Donor 29	rectum
17	chr4:77997800-77998600	Flanking Active TSS	NHEK	skin
18	chr4:77997800-78000400	Weak transcription	Spleen	Spleen
19	chr4:77998000-77998600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
20	chr4:77998000-77998600	Enhancers	Adipose Nuclei	Adipose
21	chr4:77998000-77998600	Enhancers	Sigmoid Colon	Sigmoid Colon
22	chr4:77998000-77998800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
23	chr4:77998000-77998800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr4:77998000-77998800	Enhancers	Fetal Intestine Small	intestine
25	chr4:77998000-77999000	Flanking Active TSS	Primary B cells from cord blood	blood
26	chr4:77998000-77999000	Flanking Active TSS	Primary T cells from cord blood	blood
27	chr4:77998000-77999000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
28	chr4:77998000-77999400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr4:77998000-77999400	Enhancers	Small Intestine	intestine
30	chr4:77998000-77999400	Flanking Active TSS	Dnd41	blood
31	chr4:77998000-77999600	Weak transcription	Left Ventricle	heart
32	chr4:77998000-77999800	Enhancers	Primary B cells from peripheral blood	blood
33	chr4:77998000-78000400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr4:77998000-78000400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr4:77998000-78000600	Weak transcription	Lung	lung
36	chr4:77998200-77998600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr4:77998200-77998600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
38	chr4:77998200-77998600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr4:77998200-77998600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr4:77998200-77998600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
41	chr4:77998200-77998600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
42	chr4:77998200-77998600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
43	chr4:77998200-77998600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
44	chr4:77998200-77998600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr4:77998200-77998600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
46	chr4:77998200-77998600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr4:77998200-77998600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr4:77998200-77998600	Enhancers	Brain Substantia Nigra	brain
49	chr4:77998200-77998600	Enhancers	Fetal Heart	heart
50	chr4:77998200-77998600	Enhancers	Fetal Intestine Large	intestine

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