Variant report

Variant	rs1371615
Chromosome Location	chr2:182173102-182173103
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MTA3	chr2:182172989-182174269	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:182169176..182171895-chr2:182171917..182174599,2	K562	blood:

Variant related genes	Relation type
MIR4437	TF binding region
ENSG00000266705	Chromatin interaction

Extended variants
information (count: 125 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:121)

rs_ID	r²[population]
rs10175109	0.86[EUR][1000 genomes]
rs10187534	0.86[EUR][1000 genomes]
rs10195192	0.94[ASN][1000 genomes]
rs10199252	0.80[EUR][1000 genomes]
rs10206405	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10439303	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10497579	0.94[ASN][1000 genomes]
rs10930965	0.80[EUR][1000 genomes]
rs10930966	0.80[EUR][1000 genomes]
rs12053408	0.94[ASN][1000 genomes]
rs12616514	0.94[ASN][1000 genomes]
rs12617083	0.82[EUR][1000 genomes]
rs12618053	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12619896	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12621204	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12623045	0.94[ASN][1000 genomes]
rs12623524	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12693274	0.87[EUR][1000 genomes]
rs13339832	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13339833	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13339865	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13384115	0.80[EUR][1000 genomes]
rs13387919	0.81[EUR][1000 genomes]
rs13390496	0.81[EUR][1000 genomes]
rs13390501	0.81[EUR][1000 genomes]
rs13390598	0.81[EUR][1000 genomes]
rs13393596	0.86[EUR][1000 genomes]
rs13393709	0.86[EUR][1000 genomes]
rs13400585	0.87[EUR][1000 genomes]
rs13400592	0.87[EUR][1000 genomes]
rs13400891	0.87[EUR][1000 genomes]
rs13403977	0.81[EUR][1000 genomes]
rs13410482	0.97[ASN][1000 genomes]
rs13410543	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13410843	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13413108	0.81[EUR][1000 genomes]
rs13415095	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs13416416	0.82[EUR][1000 genomes]
rs13419105	0.87[EUR][1000 genomes]
rs13426182	0.87[EUR][1000 genomes]
rs13428910	0.92[ASN][1000 genomes]
rs1371622	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1371623	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1371624	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1371625	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1440048	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1550401	0.94[ASN][1000 genomes]
rs17198661	0.94[ASN][1000 genomes]
rs17270826	0.94[ASN][1000 genomes]
rs17270854	0.94[ASN][1000 genomes]
rs17270861	0.94[ASN][1000 genomes]
rs17365327	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17365362	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17365411	0.84[ASN][1000 genomes]
rs17365418	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17456106	0.82[EUR][1000 genomes]
rs17456148	0.82[EUR][1000 genomes]
rs17456211	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17456294	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1899036	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2077783	0.82[EUR][1000 genomes]
rs2218160	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2368200	0.82[EUR][1000 genomes]
rs3926443	0.94[ASN][1000 genomes]
rs4144311	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs55646418	0.94[ASN][1000 genomes]
rs56303157	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57063898	0.82[EUR][1000 genomes]
rs57334172	0.87[EUR][1000 genomes]
rs58997932	0.94[ASN][1000 genomes]
rs59591658	0.96[ASN][1000 genomes]
rs60444729	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60689650	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60899718	0.94[ASN][1000 genomes]
rs60903476	0.94[ASN][1000 genomes]
rs61235737	0.87[EUR][1000 genomes]
rs61358146	0.85[EUR][1000 genomes]
rs62180228	0.82[EUR][1000 genomes]
rs62180237	0.87[EUR][1000 genomes]
rs62180238	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62180239	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62180241	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62180244	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62180245	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62180255	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62180256	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62180257	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62180259	0.94[ASN][1000 genomes]
rs62182263	0.94[ASN][1000 genomes]
rs62182264	0.92[ASN][1000 genomes]
rs62182265	0.96[ASN][1000 genomes]
rs6433906	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6433908	0.91[ASN][1000 genomes]
rs6433909	0.96[ASN][1000 genomes]
rs6704605	0.94[ASN][1000 genomes]
rs6716857	0.94[ASN][1000 genomes]
rs6717513	0.80[EUR][1000 genomes]
rs6717754	0.80[EUR][1000 genomes]
rs6728366	0.87[EUR][1000 genomes]
rs6729353	0.80[EUR][1000 genomes]
rs6733437	0.94[ASN][1000 genomes]
rs6743422	0.87[EUR][1000 genomes]
rs6743583	0.87[EUR][1000 genomes]
rs6744081	0.87[EUR][1000 genomes]
rs6757550	0.87[EUR][1000 genomes]
rs6758852	0.93[ASN][1000 genomes]
rs720453	0.82[EUR][1000 genomes]
rs73036640	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73036646	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7557202	0.94[ASN][1000 genomes]
rs7557292	0.89[ASN][1000 genomes]
rs7560001	0.87[ASN][1000 genomes]
rs7563015	0.94[ASN][1000 genomes]
rs7564749	0.80[EUR][1000 genomes]
rs7564976	0.80[EUR][1000 genomes]
rs9288064	0.86[EUR][1000 genomes]
rs9288065	0.85[EUR][1000 genomes]
rs959382	0.94[ASN][1000 genomes]
rs972605	0.80[EUR][1000 genomes]
rs976384	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9973857	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1002647	chr2:182078521-182392273	Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
4	nsv536064	chr2:182078521-182392273	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182168400-182174000	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr2:182168600-182174000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr2:182168600-182174200	Enhancers	Primary B cells from peripheral blood	blood
4	chr2:182168600-182176800	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr2:182168800-182174200	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr2:182170800-182173200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr2:182170800-182173400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr2:182171000-182173200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr2:182171000-182173400	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr2:182171200-182173400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr2:182171400-182174000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr2:182171600-182173200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr2:182172000-182174000	Enhancers	Primary hematopoietic stem cells	blood
14	chr2:182172200-182173200	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr2:182172200-182173200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr2:182172200-182173200	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr2:182172200-182173200	Enhancers	Dnd41	blood
18	chr2:182172200-182173200	Enhancers	GM12878-XiMat	blood
19	chr2:182172200-182173200	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr2:182172200-182173400	Enhancers	Primary B cells from cord blood	blood
21	chr2:182172200-182173400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr2:182172200-182173400	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr2:182172200-182174000	Enhancers	Primary T cells fromperipheralblood	blood
24	chr2:182172200-182174000	Enhancers	Fetal Thymus	thymus
25	chr2:182172200-182176200	Weak transcription	Duodenum Mucosa	Duodenum
26	chr2:182172200-182178000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr2:182172200-182179000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr2:182172800-182173600	Enhancers	Thymus	Thymus
29	chr2:182172800-182173800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
30	chr2:182172800-182173800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr2:182173000-182173200	Flanking Active TSS	Primary T cells from cord blood	blood
32	chr2:182173000-182173400	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr2:182173000-182173600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
34	chr2:182173000-182173800	Enhancers	Small Intestine	intestine

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