Variant report

Variant	rs57315825
Chromosome Location	chr1:210030197-210030198
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	chr1:209999584..210001298-chr1:210028865..210031163,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1073150	0.84[EUR][1000 genomes]
rs11119358	0.81[EUR][1000 genomes]
rs1319435	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17015309	0.85[EUR][1000 genomes]
rs17015330	0.84[EUR][1000 genomes]
rs17015361	0.84[EUR][1000 genomes]
rs2064163	0.86[EUR][1000 genomes]
rs2206043	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2357230	0.84[EUR][1000 genomes]
rs4556361	0.83[EUR][1000 genomes]
rs55871867	0.88[ASN][1000 genomes]
rs59435160	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60326345	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61747285	0.85[EUR][1000 genomes]
rs6540563	0.84[EUR][1000 genomes]
rs6540564	0.84[EUR][1000 genomes]
rs6698154	0.84[EUR][1000 genomes]
rs735693	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs735694	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7511996	0.84[EUR][1000 genomes]
rs7525951	0.84[EUR][1000 genomes]
rs7540237	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7551944	0.95[EUR][1000 genomes];0.97[ASN][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
rs57315825	TRAF3IP3	cis	Whole Blood	GTEx

Chromatin state (count:107 , 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	chr1:210004200-210030200	Strong transcription	Primary T cells from cord blood	blood
5	chr1:210017600-210041200	Weak transcription	Fetal Brain Male	brain
6	chr1:210018000-210032800	Weak transcription	Small Intestine	intestine
7	chr1:210019000-210033800	Weak transcription	Fetal Heart	heart
8	chr1:210019800-210030200	Strong transcription	Rectal Mucosa Donor 29	rectum
9	chr1:210024200-210030200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:210025000-210035800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:210025200-210030200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr1:210026200-210033200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr1:210026200-210035400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr1:210026200-210035600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr1:210027600-210032200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr1:210027600-210032400	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr1:210027600-210034200	Weak transcription	HMEC	breast
18	chr1:210027600-210034600	Weak transcription	K562	blood
19	chr1:210027600-210036200	Weak transcription	Fetal Lung	lung
20	chr1:210027600-210036800	Weak transcription	HSMM	muscle
21	chr1:210027800-210031200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr1:210027800-210031800	Weak transcription	Colon Smooth Muscle	Colon
23	chr1:210027800-210032800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:210027800-210034200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr1:210027800-210034400	Weak transcription	NH-A	brain
26	chr1:210027800-210034800	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr1:210027800-210035000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr1:210027800-210035400	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr1:210028000-210030200	Enhancers	Brain Cingulate Gyrus	brain
30	chr1:210028000-210031200	Weak transcription	Fetal Thymus	thymus
31	chr1:210028000-210031400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr1:210028000-210031400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr1:210028000-210031600	Weak transcription	Aorta	Aorta
34	chr1:210028000-210031600	Weak transcription	Left Ventricle	heart
35	chr1:210028000-210032200	Weak transcription	GM12878-XiMat	blood
36	chr1:210028000-210033000	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr1:210028000-210033000	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr1:210028000-210033000	Weak transcription	HUVEC	blood vessel
39	chr1:210028000-210033200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr1:210028000-210033400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr1:210028000-210034000	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr1:210028000-210034200	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr1:210028000-210036200	Weak transcription	HSMMtube	muscle
44	chr1:210028200-210031400	Weak transcription	Psoas Muscle	Psoas
45	chr1:210028200-210031600	Weak transcription	Colonic Mucosa	Colon
46	chr1:210028200-210032000	Weak transcription	Duodenum Mucosa	Duodenum
47	chr1:210028200-210032000	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr1:210028200-210032600	Weak transcription	Pancreas	Pancrea
49	chr1:210028200-210033200	Weak transcription	NHLF	lung
50	chr1:210028200-210033600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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