Variant report

Variant	rs4146007
Chromosome Location	chr4:48132471-48132472
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:48131478..48133698-chr4:48139197..48141386,3	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13136882	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35054707	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4571301	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4695338	0.97[ASN][1000 genomes]
rs4695345	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58924403	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[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	esv3447039	chr4:47822266-48285222	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48123000-48137600	Weak transcription	Gastric	stomach
2	chr4:48126600-48133400	Enhancers	K562	blood
3	chr4:48129200-48136600	Enhancers	Fetal Heart	heart
4	chr4:48129400-48135000	Enhancers	Fetal Thymus	thymus
5	chr4:48129800-48140800	Weak transcription	Fetal Stomach	stomach
6	chr4:48129800-48157400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr4:48130200-48132600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr4:48130200-48134400	Weak transcription	Primary B cells from cord blood	blood
9	chr4:48130200-48137800	Weak transcription	Esophagus	oesophagus
10	chr4:48130400-48133000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr4:48130400-48133000	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr4:48130400-48133400	Weak transcription	Small Intestine	intestine
13	chr4:48130400-48135400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr4:48130400-48137800	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr4:48130400-48138400	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr4:48130400-48139000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr4:48130400-48139800	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr4:48130400-48152200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr4:48130400-48155400	Weak transcription	Psoas Muscle	Psoas
20	chr4:48130400-48156200	Weak transcription	Adipose Nuclei	Adipose
21	chr4:48130400-48156800	Weak transcription	Rectal Smooth Muscle	rectum
22	chr4:48130400-48157600	Weak transcription	Colonic Mucosa	Colon
23	chr4:48130600-48132600	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr4:48130600-48132800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr4:48130600-48135400	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr4:48130600-48136000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr4:48130600-48137000	Weak transcription	Liver	Liver
28	chr4:48130600-48142800	Weak transcription	Stomach Smooth Muscle	stomach
29	chr4:48130600-48146000	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr4:48130800-48133800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
31	chr4:48131000-48132600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
32	chr4:48131000-48133200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
33	chr4:48131000-48135600	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr4:48131000-48137000	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr4:48131000-48137800	Weak transcription	Aorta	Aorta
36	chr4:48131400-48133000	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
37	chr4:48131400-48133200	Enhancers	Left Ventricle	heart
38	chr4:48131400-48133600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
39	chr4:48131600-48132800	Enhancers	Right Atrium	heart
40	chr4:48131800-48132600	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
41	chr4:48131800-48132600	Enhancers	Pancreas	Pancrea
42	chr4:48131800-48132600	Enhancers	Right Ventricle	heart
43	chr4:48131800-48132800	Transcr. at gene 5' and 3'	Primary T helper naive cells from peripheral blood	blood
44	chr4:48131800-48133000	Enhancers	Placenta	Placenta
45	chr4:48131800-48135600	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr4:48131800-48137400	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr4:48131800-48141400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr4:48131800-48142000	Weak transcription	NHLF	lung
49	chr4:48132000-48132600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr4:48132000-48132600	Enhancers	Primary T killer memory cells from peripheral blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links