Variant report

Variant	rs9990678
Chromosome Location	chr4:95400302-95400303
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:95392600..95395263-chr4:95399484..95402281,2	K562	blood:
2	chr4:95372993..95375546-chr4:95399640..95402667,3	K562	blood:
3	chr4:95398573..95401933-chr4:95402630..95406147,4	K562	blood:
4	chr4:95391486..95396177-chr4:95398178..95402962,4	K562	blood:
5	chr4:95399809..95401815-chr4:95403356..95405505,3	K562	blood:
6	chr4:95373234..95374778-chr4:95399640..95401902,2	K562	blood:

Variant related genes	Relation type
ENSG00000163110	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17378777	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1820475	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2011525	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2433320	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2433322	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2433323	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2433326	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2438146	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2438147	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2438148	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2452553	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2510762	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2510763	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2510765	0.90[EUR][1000 genomes]
rs28697067	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34570027	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6812165	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs774982	0.82[AMR][1000 genomes];0.84[EUR][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:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:95375000-95440200	Weak transcription	Primary T cells from cord blood	blood
2	chr4:95375800-95401600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr4:95387400-95410000	Weak transcription	NHLF	lung
4	chr4:95387400-95420800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr4:95389600-95406000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr4:95393800-95401600	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr4:95393800-95405600	Weak transcription	HSMMtube	muscle
8	chr4:95394000-95405000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr4:95394200-95401400	Weak transcription	Brain Anterior Caudate	brain
10	chr4:95394200-95404800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr4:95394400-95400600	Weak transcription	Adipose Nuclei	Adipose
12	chr4:95394400-95405800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr4:95394400-95407000	Weak transcription	NH-A	brain
14	chr4:95394400-95407800	Weak transcription	Aorta	Aorta
15	chr4:95394400-95419200	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr4:95394400-95428000	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr4:95394600-95406000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr4:95395000-95400600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr4:95395400-95405000	Weak transcription	HSMM	muscle
20	chr4:95396600-95419000	Weak transcription	Duodenum Mucosa	Duodenum
21	chr4:95396800-95410000	Weak transcription	Fetal Intestine Large	intestine
22	chr4:95397800-95400600	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr4:95398000-95401400	Weak transcription	HepG2	liver
24	chr4:95398400-95401600	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr4:95398400-95407600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr4:95398400-95408800	Weak transcription	Brain Substantia Nigra	brain
27	chr4:95398400-95428400	Weak transcription	Small Intestine	intestine
28	chr4:95398600-95400600	Weak transcription	HUVEC	blood vessel
29	chr4:95398600-95401000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr4:95398600-95401600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr4:95398600-95401600	Weak transcription	Stomach Smooth Muscle	stomach
32	chr4:95398600-95403400	Weak transcription	Fetal Muscle Leg	muscle
33	chr4:95398600-95405800	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr4:95399000-95400400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr4:95399000-95400400	Strong transcription	Fetal Intestine Small	intestine
36	chr4:95399000-95400400	Weak transcription	Right Ventricle	heart
37	chr4:95399000-95400600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr4:95399000-95400600	Weak transcription	Colon Smooth Muscle	Colon
39	chr4:95399000-95400800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr4:95399000-95400800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr4:95399000-95401000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr4:95399000-95401000	Weak transcription	Stomach Mucosa	stomach
43	chr4:95399000-95401200	Weak transcription	Rectal Smooth Muscle	rectum
44	chr4:95399000-95401400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr4:95399000-95401400	Weak transcription	Gastric	stomach
46	chr4:95399000-95401600	Weak transcription	Esophagus	oesophagus
47	chr4:95399000-95401600	Weak transcription	Psoas Muscle	Psoas
48	chr4:95399000-95404600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr4:95399000-95409800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr4:95399200-95400400	Weak transcription	Liver	Liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links