Variant report

Variant	rs9574418
Chromosome Location	chr13:79968009-79968010
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:135)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:135 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFATC1	chr13:79967533-79968503	GM12878	blood:	n/a	n/a
2	SIN3AK20	chr13:79967935-79968334	HepG2	liver:	n/a	n/a
3	SIN3AK20	chr13:79967790-79968556	MCF-7	breast:	n/a	n/a
4	JUND	chr13:79967980-79968302	HepG2	liver:	n/a	n/a
5	MAX	chr13:79967965-79968380	K562	blood:	n/a	n/a
6	SPI1	chr13:79967854-79968392	HL-60	blood:	n/a	n/a
7	MAX	chr13:79967913-79968330	HepG2	liver:	n/a	n/a
8	HEY1	chr13:79967873-79968100	HepG2	liver:	n/a	n/a
9	POLR2A	chr13:79966888-79968760	GM12892	blood:	n/a	n/a
10	HDAC2	chr13:79967821-79968297	HepG2	liver:	n/a	n/a
11	POLR2A	chr13:79967507-79968193	GM12878	blood:	n/a	n/a
12	POLR2A	chr13:79967867-79968223	HepG2	liver:	n/a	n/a
13	HNF4A	chr13:79967862-79968283	HepG2	liver:	n/a	n/a
14	RCOR1	chr13:79967909-79968413	HepG2	liver:	n/a	n/a
15	MXI1	chr13:79967889-79968405	HepG2	liver:	n/a	n/a
16	MAX	chr13:79967714-79968550	HepG2	liver:	n/a	n/a
17	POLR2A	chr13:79967486-79968477	HL-60	blood:	n/a	n/a
18	POLR2A	chr13:79967613-79968618	HepG2	liver:	n/a	n/a
19	RCOR1	chr13:79967932-79968477	GM12878	blood:	n/a	n/a
20	USF2	chr13:79967785-79968355	GM12878	blood:	n/a	n/a
21	SIN3AK20	chr13:79967712-79968588	MCF-7	breast:	n/a	n/a
22	SETDB1	chr13:79967802-79969341	U2OS	brain:	n/a	n/a
23	POLR2A	chr13:79966996-79969402	HepG2	liver:	n/a	n/a
24	MYC	chr13:79967594-79968594	NB4	blood:	n/a	n/a
25	POLR2A	chr13:79967522-79968357	GM12891	blood:	n/a	n/a
26	POLR2A	chr13:79966999-79968545	GM12891	blood:	n/a	n/a
27	POLR2A	chr13:79967946-79968371	PANC-1	pancreas:	n/a	n/a
28	SPI1	chr13:79967990-79968256	GM12878	blood:	n/a	n/a
29	USF1	chr13:79967999-79968248	GM12878	blood:	n/a	n/a
30	MAX	chr13:79967950-79968437	K562	blood:	n/a	n/a
31	MAX	chr13:79967855-79968492	K562	blood:	n/a	n/a
32	ELF1	chr13:79967929-79968340	HepG2	liver:	n/a	n/a
33	HEY1	chr13:79967791-79968244	HepG2	liver:	n/a	n/a
34	TBL1XR1	chr13:79967963-79968389	GM12878	blood:	n/a	n/a
35	POLR2A	chr13:79967012-79968774	GM12892	blood:	n/a	n/a
36	POLR2A	chr13:79967993-79968252	H1-hESC	embryonic stem cell:	n/a	n/a
37	EP300	chr13:79967859-79968341	HepG2	liver:	n/a	n/a
38	SPI1	chr13:79968000-79968246	K562	blood:	n/a	n/a
39	SIN3AK20	chr13:79967955-79968251	PFSK-1	brain:	n/a	n/a
40	POLR2A	chr13:79966954-79968575	GM12878	blood:	n/a	n/a
41	NFATC1	chr13:79967608-79968341	GM12878	blood:	n/a	n/a
42	ZNF143	chr13:79967659-79968362	GM12878	blood:	n/a	n/a
43	BHLHE40	chr13:79967780-79968441	K562	blood:	n/a	n/a
44	TEAD4	chr13:79967925-79968327	K562	blood:	n/a	n/a
45	USF1	chr13:79967933-79968211	GM12878	blood:	n/a	n/a
46	POLR2A	chr13:79967190-79969200	Hela-S3	cervix:	n/a	n/a
47	RELA	chr13:79967998-79968526	GM18951	blood:	n/a	n/a
48	SPI1	chr13:79967843-79968243	GM12891	blood:	n/a	n/a
49	WRNIP1	chr13:79966807-79968464	GM12878	blood:	n/a	n/a
50	MAZ	chr13:79967974-79968227	HepG2	liver:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:79958743..79963128-chr13:79965623..79969929,4	K562	blood:
2	chr13:79967156..79970145-chr13:79977393..79982048,5	MCF-7	breast:
3	chr13:79966275..79969690-chr13:79971723..79976630,6	K562	blood:
4	chr13:79965413..79968619-chr13:79980082..79982197,3	K562	blood:
5	chr13:79959228..79961177-chr13:79966634..79969292,3	MCF-7	breast:

No data

Variant related genes	Relation type
RNA5SP33	TF binding region
ENSG00000227354	Chromatin interaction
ENSG00000139746	Chromatin interaction

Extended variants
information (count: 117 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:114)

rs_ID	r²[population]
rs1022891	0.82[ASN][1000 genomes]
rs11620233	0.87[ASN][1000 genomes]
rs12877507	0.98[ASN][1000 genomes]
rs1324868	0.98[ASN][1000 genomes]
rs1590465	0.98[ASN][1000 genomes]
rs1616547	0.81[ASN][1000 genomes]
rs1619669	0.95[ASN][1000 genomes]
rs1624537	0.95[ASN][1000 genomes]
rs1748761	0.94[ASN][1000 genomes]
rs1748762	0.94[ASN][1000 genomes]
rs1748763	0.94[ASN][1000 genomes]
rs1748769	0.95[ASN][1000 genomes]
rs1749982	0.95[ASN][1000 genomes]
rs1853830	0.94[ASN][1000 genomes]
rs1886494	0.98[ASN][1000 genomes]
rs1980764	0.94[ASN][1000 genomes]
rs2031815	0.99[ASN][1000 genomes]
rs2095477	0.93[ASN][1000 genomes]
rs2147568	0.95[ASN][1000 genomes]
rs2182009	0.98[ASN][1000 genomes]
rs2265377	0.96[ASN][1000 genomes]
rs2265378	0.96[ASN][1000 genomes]
rs2265381	0.95[ASN][1000 genomes]
rs2265382	0.95[ASN][1000 genomes]
rs2296287	0.94[ASN][1000 genomes]
rs2477395	0.95[ASN][1000 genomes]
rs2477397	0.95[ASN][1000 genomes]
rs2484345	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2763809	0.94[ASN][1000 genomes]
rs2763810	0.97[ASN][1000 genomes]
rs2765078	0.95[ASN][1000 genomes]
rs2876740	0.95[ASN][1000 genomes]
rs314688	0.86[AMR][1000 genomes]
rs314689	0.85[ASN][1000 genomes]
rs314690	0.89[ASN][1000 genomes]
rs314692	0.96[ASN][1000 genomes]
rs314693	0.96[ASN][1000 genomes]
rs314694	0.96[ASN][1000 genomes]
rs314695	0.95[ASN][1000 genomes]
rs35476664	0.94[ASN][1000 genomes]
rs3742120	1.00[ASN][1000 genomes]
rs3742122	1.00[ASN][1000 genomes]
rs3764150	0.92[ASN][1000 genomes]
rs4146473	0.88[ASN][1000 genomes]
rs416660	0.96[ASN][1000 genomes]
rs418150	0.96[ASN][1000 genomes]
rs4605023	0.98[ASN][1000 genomes]
rs4885633	0.82[AMR][1000 genomes]
rs4885634	0.81[AMR][1000 genomes]
rs57821487	0.99[ASN][1000 genomes]
rs586219	0.96[ASN][1000 genomes]
rs643778	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6563100	0.97[ASN][1000 genomes]
rs6563104	0.99[ASN][1000 genomes]
rs6563110	0.82[AMR][1000 genomes]
rs6563113	0.81[AMR][1000 genomes]
rs7321186	0.98[ASN][1000 genomes]
rs7322901	0.98[ASN][1000 genomes]
rs7323246	0.99[ASN][1000 genomes]
rs7325095	0.82[AMR][1000 genomes]
rs7328494	0.93[ASN][1000 genomes]
rs7329331	0.99[ASN][1000 genomes]
rs7330479	0.99[ASN][1000 genomes]
rs7331525	0.95[ASN][1000 genomes]
rs7331766	0.99[ASN][1000 genomes]
rs7331867	0.89[ASN][1000 genomes]
rs7331872	0.98[ASN][1000 genomes]
rs7336186	0.98[ASN][1000 genomes]
rs7336581	0.98[ASN][1000 genomes]
rs7336939	0.89[ASN][1000 genomes]
rs7336979	0.95[ASN][1000 genomes]
rs7338530	0.82[AMR][1000 genomes]
rs7338678	0.92[ASN][1000 genomes]
rs7981500	0.99[ASN][1000 genomes]
rs7986306	0.92[ASN][1000 genomes]
rs7987193	0.95[ASN][1000 genomes]
rs7988601	0.82[AMR][1000 genomes]
rs7990321	0.95[ASN][1000 genomes]
rs8001281	0.95[ASN][1000 genomes]
rs8001308	0.87[ASN][1000 genomes]
rs8001392	0.88[ASN][1000 genomes]
rs8001622	0.95[ASN][1000 genomes]
rs8001795	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs8002042	0.81[AMR][1000 genomes]
rs8002838	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs912639	0.95[ASN][1000 genomes]
rs9318638	0.95[ASN][1000 genomes]
rs9318640	0.95[ASN][1000 genomes]
rs9318641	0.95[ASN][1000 genomes]
rs9530913	0.99[ASN][1000 genomes]
rs9530914	1.00[ASN][1000 genomes]
rs9530915	0.98[ASN][1000 genomes]
rs9530917	0.95[ASN][1000 genomes]
rs9530920	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs9530922	0.82[AMR][1000 genomes]
rs9530925	0.81[AMR][1000 genomes]
rs9545097	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9545101	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9545104	0.99[ASN][1000 genomes]
rs9545106	0.99[ASN][1000 genomes]
rs9545108	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs9545109	0.95[ASN][1000 genomes]
rs9545113	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs9545114	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs9565496	0.98[ASN][1000 genomes]
rs9565497	0.95[ASN][1000 genomes]
rs9565500	0.95[ASN][1000 genomes]
rs9574416	0.98[ASN][1000 genomes]
rs9574419	0.98[ASN][1000 genomes]
rs9574420	0.98[ASN][1000 genomes]
rs9574422	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9593396	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9601226	0.98[ASN][1000 genomes]
rs9601227	0.95[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	nsv900586	chr13:79892722-79968467	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv832657	chr13:79904978-80099108	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
3	esv3361416	chr13:79967950-79968155	Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9574418	RBM26	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:79946400-79969200	Weak transcription	Fetal Kidney	kidney
2	chr13:79951200-79979200	Weak transcription	Esophagus	oesophagus
3	chr13:79951600-79969000	Weak transcription	Fetal Brain Male	brain
4	chr13:79951800-79978200	Weak transcription	Aorta	Aorta
5	chr13:79952600-79977800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr13:79954400-79969000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr13:79958600-79971000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr13:79958800-79969600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr13:79958800-79969800	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr13:79958800-79969800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr13:79958800-79971000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr13:79958800-79977800	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr13:79960600-79969800	Weak transcription	HSMMtube	muscle
14	chr13:79960600-79975600	Weak transcription	Ovary	ovary
15	chr13:79960800-79971400	Weak transcription	NHLF	lung
16	chr13:79961000-79969800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr13:79961600-79970000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr13:79962200-79969000	Weak transcription	Brain Germinal Matrix	brain
19	chr13:79962800-79973000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr13:79962800-79974400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr13:79964600-79969800	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr13:79965600-79969200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr13:79966000-79969800	Weak transcription	Hela-S3	cervix
24	chr13:79966800-79968200	Enhancers	Osteobl	bone
25	chr13:79966800-79968400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
26	chr13:79966800-79968400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr13:79966800-79968400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
28	chr13:79966800-79968400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr13:79966800-79968600	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr13:79966800-79968600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
31	chr13:79966800-79968600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
32	chr13:79966800-79968800	Flanking Active TSS	Primary T cells from cord blood	blood
33	chr13:79966800-79968800	Enhancers	Thymus	Thymus
34	chr13:79966800-79969200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr13:79967000-79968200	Enhancers	Brain Angular Gyrus	brain
36	chr13:79967000-79968200	Enhancers	Brain Inferior Temporal Lobe	brain
37	chr13:79967000-79968400	Enhancers	Brain Anterior Caudate	brain
38	chr13:79967000-79968400	Enhancers	Fetal Intestine Large	intestine
39	chr13:79967000-79968400	Enhancers	Stomach Mucosa	stomach
40	chr13:79967000-79968400	Enhancers	NH-A	brain
41	chr13:79967000-79968600	Flanking Active TSS	Primary B cells from cord blood	blood
42	chr13:79967000-79968600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
43	chr13:79967000-79968600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
44	chr13:79967000-79968600	Enhancers	Colon Smooth Muscle	Colon
45	chr13:79967000-79968600	Enhancers	Psoas Muscle	Psoas
46	chr13:79967000-79968800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
47	chr13:79967000-79969000	Enhancers	Small Intestine	intestine
48	chr13:79967000-79969200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
49	chr13:79967000-79969200	Genic enhancers	Fetal Thymus	thymus
50	chr13:79967200-79968200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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