Variant report

Variant	rs7551944
Chromosome Location	chr1:210029430-210029431
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:209999584..210001298-chr1:210028865..210031163,2	K562	blood:
2	chr1:210010076..210012426-chr1:210027665..210030061,2	K562	blood:
3	chr1:210021955..210024232-chr1:210027694..210029567,2	K562	blood:
4	chr1:210026731..210029603-chr1:210060383..210062593,2	K562	blood:
5	chr1:210026504..210029493-chr1:210547161..210548663,2	K562	blood:

Variant related genes	Relation type
ENSG00000117597	Chromatin interaction
ENSG00000200972	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1073150	0.88[EUR][1000 genomes]
rs11119358	0.85[EUR][1000 genomes]
rs1319435	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1415543	0.88[AMR][1000 genomes]
rs17015309	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17015330	0.88[EUR][1000 genomes]
rs17015361	0.88[EUR][1000 genomes]
rs170554	0.83[AFR][1000 genomes]
rs17389436	0.83[AFR][1000 genomes]
rs2064163	0.81[EUR][1000 genomes]
rs2205984	0.88[AMR][1000 genomes]
rs2206043	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs227212	0.83[AFR][1000 genomes]
rs227213	0.83[AFR][1000 genomes]
rs227220	0.83[AFR][1000 genomes]
rs227222	0.83[AFR][1000 genomes]
rs2357230	0.88[EUR][1000 genomes]
rs4556361	0.87[EUR][1000 genomes]
rs55871867	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57315825	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59435160	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60326345	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61747285	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6540563	0.88[EUR][1000 genomes]
rs6540564	0.88[EUR][1000 genomes]
rs6698154	0.88[EUR][1000 genomes]
rs735693	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs735694	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7511996	0.88[EUR][1000 genomes]
rs7525951	0.88[EUR][1000 genomes]
rs7540237	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9430025	0.83[AFR][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	nsv999901	chr1:209600631-210205379	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv873139	chr1:209828955-210050794	Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7551944	TRAF3IP3	cis	Whole Blood	GTEx

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210001800-210034000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:210002400-210032000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:210004000-210030800	Strong transcription	Primary B cells from cord blood	blood
4	chr1:210004200-210029600	Strong transcription	Fetal Muscle Leg	muscle
5	chr1:210004200-210030200	Strong transcription	Primary T cells from cord blood	blood
6	chr1:210017600-210041200	Weak transcription	Fetal Brain Male	brain
7	chr1:210018000-210032800	Weak transcription	Small Intestine	intestine
8	chr1:210019000-210033800	Weak transcription	Fetal Heart	heart
9	chr1:210019800-210030200	Strong transcription	Rectal Mucosa Donor 29	rectum
10	chr1:210020600-210029600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr1:210023400-210029600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr1:210024200-210030200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:210024400-210030000	Strong transcription	A549	lung
14	chr1:210024800-210029800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr1:210025000-210035800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:210025200-210030200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr1:210025600-210029600	Strong transcription	Lung	lung
18	chr1:210025800-210029600	Strong transcription	Fetal Stomach	stomach
19	chr1:210025800-210029600	Strong transcription	Ovary	ovary
20	chr1:210026200-210033200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr1:210026200-210035400	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr1:210026200-210035600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr1:210026800-210029600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr1:210027200-210029600	Enhancers	Brain Angular Gyrus	brain
25	chr1:210027200-210030000	Strong transcription	Gastric	stomach
26	chr1:210027600-210032200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr1:210027600-210032400	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr1:210027600-210034200	Weak transcription	HMEC	breast
29	chr1:210027600-210034600	Weak transcription	K562	blood
30	chr1:210027600-210036200	Weak transcription	Fetal Lung	lung
31	chr1:210027600-210036800	Weak transcription	HSMM	muscle
32	chr1:210027800-210031200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr1:210027800-210031800	Weak transcription	Colon Smooth Muscle	Colon
34	chr1:210027800-210032800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr1:210027800-210034200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr1:210027800-210034400	Weak transcription	NH-A	brain
37	chr1:210027800-210034800	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr1:210027800-210035000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr1:210027800-210035400	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr1:210028000-210029600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr1:210028000-210029600	Strong transcription	Brain Germinal Matrix	brain
42	chr1:210028000-210029600	Weak transcription	Placenta	Placenta
43	chr1:210028000-210029800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr1:210028000-210029800	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr1:210028000-210030200	Enhancers	Brain Cingulate Gyrus	brain
46	chr1:210028000-210031200	Weak transcription	Fetal Thymus	thymus
47	chr1:210028000-210031400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr1:210028000-210031400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr1:210028000-210031600	Weak transcription	Aorta	Aorta
50	chr1:210028000-210031600	Weak transcription	Left Ventricle	heart

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