Variant report

Variant	rs2452577
Chromosome Location	chr4:95450297-95450298
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:95449221..95452678-chr4:95455541..95457733,4	K562	blood:
2	chr4:95440363..95442905-chr4:95447523..95451305,3	K562	blood:
3	chr4:95444922..95447513-chr4:95448742..95450717,3	K562	blood:
4	chr4:95373541..95377061-chr4:95449267..95452941,4	K562	blood:

Variant related genes	Relation type
ENSG00000163110	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs12645971	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs13110115	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs13143502	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17394213	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2452010	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2452569	0.80[ASN][1000 genomes]
rs2452570	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2452571	0.83[ASN][1000 genomes]
rs2452572	0.88[ASN][1000 genomes]
rs2452574	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2452575	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2452576	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2510768	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2510769	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2510775	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2510779	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2510780	0.83[ASN][1000 genomes]
rs2510781	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3792666	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs3805285	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4699505	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4699533	0.80[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv993495	chr4:94992315-95482578	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv594901	chr4:95254730-95493246	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1003743	chr4:95255957-95469831	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 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	chr4:95422400-95482800	Weak transcription	Fetal Muscle Trunk	muscle
2	chr4:95430000-95456200	Weak transcription	Small Intestine	intestine
3	chr4:95437600-95456000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr4:95438200-95454600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr4:95438400-95454800	Weak transcription	Hela-S3	cervix
6	chr4:95440400-95455000	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr4:95440600-95454200	Weak transcription	Fetal Stomach	stomach
8	chr4:95440600-95454600	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr4:95440600-95454800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr4:95440600-95456200	Weak transcription	Spleen	Spleen
11	chr4:95440600-95456400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr4:95440600-95456600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr4:95440800-95454200	Weak transcription	Duodenum Mucosa	Duodenum
14	chr4:95441000-95451800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr4:95441400-95455000	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr4:95441600-95451400	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr4:95441600-95454600	Weak transcription	Primary B cells from peripheral blood	blood
18	chr4:95442000-95469600	Weak transcription	Primary T cells from cord blood	blood
19	chr4:95442600-95455200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr4:95444400-95453400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr4:95445000-95454600	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr4:95445000-95454800	Weak transcription	Primary hematopoietic stem cells	blood
23	chr4:95447400-95455000	Weak transcription	HepG2	liver
24	chr4:95447600-95450400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr4:95447800-95450600	Strong transcription	Fetal Intestine Small	intestine
26	chr4:95447800-95450600	Enhancers	Psoas Muscle	Psoas
27	chr4:95447800-95451200	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr4:95447800-95457200	Weak transcription	NHLF	lung
29	chr4:95448000-95450600	Enhancers	Right Atrium	heart
30	chr4:95448000-95451200	Weak transcription	Adipose Nuclei	Adipose
31	chr4:95448000-95451400	Enhancers	Colon Smooth Muscle	Colon
32	chr4:95448000-95451800	Weak transcription	GM12878-XiMat	blood
33	chr4:95448200-95450800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr4:95448200-95451400	Weak transcription	Rectal Smooth Muscle	rectum
35	chr4:95448400-95450400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr4:95448400-95450400	Strong transcription	Fetal Intestine Large	intestine
37	chr4:95448400-95450600	Genic enhancers	Left Ventricle	heart
38	chr4:95448600-95450400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr4:95448600-95450400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr4:95448600-95450400	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr4:95448600-95450600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr4:95448600-95456200	Weak transcription	Brain Substantia Nigra	brain
43	chr4:95448600-95456600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr4:95448800-95450400	Enhancers	Gastric	stomach
45	chr4:95448800-95450400	Enhancers	Right Ventricle	heart
46	chr4:95449000-95450400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr4:95449000-95450400	Enhancers	Pancreas	Pancrea
48	chr4:95449000-95450400	Genic enhancers	HUVEC	blood vessel
49	chr4:95449000-95450600	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr4:95449000-95451200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links