Variant report

Variant	rs57821487
Chromosome Location	chr13:79966945-79966946
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:21)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:21 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr13:79966931-79967440	GM12878	blood:	n/a	n/a
2	POLR2A	chr13:79966888-79968760	GM12892	blood:	n/a	n/a
3	NFATC1	chr13:79966889-79967541	GM12878	blood:	n/a	n/a
4	FOXA2	chr13:79966910-79967089	HepG2	liver:	n/a	n/a
5	JUND	chr13:79966925-79967361	K562	blood:	n/a	n/a
6	FOXA1	chr13:79966870-79967080	T-47D	breast:	n/a	n/a
7	MTA3	chr13:79966908-79967444	GM12878	blood:	n/a	n/a
8	GATA2	chr13:79966886-79967429	HUVEC	blood vessel:	n/a	chr13:79967123-79967137
9	GATA3	chr13:79966857-79967404	SK-N-SH	brain:	n/a	n/a
10	WRNIP1	chr13:79966807-79968464	GM12878	blood:	n/a	n/a
11	STAT5A	chr13:79966942-79967389	GM12878	blood:	n/a	n/a
12	RUNX3	chr13:79966933-79967421	GM12878	blood:	n/a	n/a
13	TEAD4	chr13:79966897-79967353	K562	blood:	n/a	n/a
14	GATA3	chr13:79966771-79967540	SK-N-SH	brain:	n/a	n/a
15	BCLAF1	chr13:79966935-79967406	GM12878	blood:	n/a	n/a
16	PML	chr13:79966880-79968057	GM12878	blood:	n/a	n/a
17	POLR2A	chr13:79966945-79967332	U87	brain:	n/a	n/a
18	BCLAF1	chr13:79966886-79967452	GM12878	blood:	n/a	n/a
19	RCOR1	chr13:79966899-79967351	K562	blood:	n/a	n/a
20	KAP1	chr13:79966945-79968673	HEK293	kidney:	n/a	n/a
21	FOXM1	chr13:79966921-79967403	GM12878	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

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

No data

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

Extended variants
information (count: 107 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:103)

rs_ID	r²[population]
rs1022891	0.81[ASN][1000 genomes]
rs11620233	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12877507	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1324868	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1590465	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1616547	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1619669	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1624537	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1748761	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1748762	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1748763	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1748769	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1749982	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1853830	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1886494	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1980764	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2031815	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2095477	0.92[ASN][1000 genomes]
rs2147568	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2182009	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2265377	0.95[ASN][1000 genomes]
rs2265378	0.95[ASN][1000 genomes]
rs2265381	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2265382	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2296287	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2477395	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2477397	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2484345	0.95[ASN][1000 genomes]
rs2763809	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2763810	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2765078	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2876740	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs314689	0.86[ASN][1000 genomes]
rs314690	0.88[ASN][1000 genomes]
rs314692	0.95[ASN][1000 genomes]
rs314693	0.95[ASN][1000 genomes]
rs314694	0.95[ASN][1000 genomes]
rs314695	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35476664	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3742120	0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3742122	0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3764150	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4146473	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs416660	0.95[ASN][1000 genomes]
rs418150	0.95[ASN][1000 genomes]
rs4605023	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs586219	0.95[ASN][1000 genomes]
rs643778	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6563100	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6563104	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7321186	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7322901	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7323246	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7328494	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7329331	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7330479	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7331525	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7331766	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7331867	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7331872	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7336186	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7336581	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7336939	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7336979	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7338678	0.93[ASN][1000 genomes]
rs7981500	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7986306	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7987193	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7990321	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8001281	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8001308	0.88[ASN][1000 genomes]
rs8001392	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8001622	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8001795	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8002838	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs912639	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9318638	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9318640	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9318641	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9530913	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9530914	0.99[ASN][1000 genomes]
rs9530915	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9530917	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9530920	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9545097	0.99[ASN][1000 genomes]
rs9545101	0.99[ASN][1000 genomes]
rs9545104	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9545106	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9545108	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9545109	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9545113	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9545114	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9565496	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9565497	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9565500	0.94[ASN][1000 genomes]
rs9574416	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9574418	0.99[ASN][1000 genomes]
rs9574419	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9574420	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9574422	0.95[ASN][1000 genomes]
rs9593396	0.98[ASN][1000 genomes]
rs9601226	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9601227	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[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	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	esv3345310	chr13:79965251-79967874	Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	esv3420739	chr13:79965851-79967449	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs57821487	RBM26	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:79942000-79967400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr13:79946400-79969200	Weak transcription	Fetal Kidney	kidney
3	chr13:79951200-79979200	Weak transcription	Esophagus	oesophagus
4	chr13:79951600-79969000	Weak transcription	Fetal Brain Male	brain
5	chr13:79951800-79978200	Weak transcription	Aorta	Aorta
6	chr13:79952000-79967200	Weak transcription	Brain Hippocampus Middle	brain
7	chr13:79952000-79967600	Weak transcription	Gastric	stomach
8	chr13:79952200-79967600	Weak transcription	Pancreas	Pancrea
9	chr13:79952200-79967600	Weak transcription	Spleen	Spleen
10	chr13:79952400-79967000	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr13:79952400-79967200	Weak transcription	Brain Cingulate Gyrus	brain
12	chr13:79952400-79967200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr13:79952400-79967200	Weak transcription	Fetal Lung	lung
14	chr13:79952400-79967400	Weak transcription	Fetal Brain Female	brain
15	chr13:79952400-79967600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr13:79952400-79967600	Weak transcription	Left Ventricle	heart
17	chr13:79952400-79967600	Weak transcription	Right Ventricle	heart
18	chr13:79952400-79967800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr13:79952600-79977800	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr13:79952800-79967200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr13:79952800-79967200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr13:79952800-79967800	Weak transcription	Fetal Stomach	stomach
23	chr13:79953000-79967200	Weak transcription	Fetal Muscle Trunk	muscle
24	chr13:79953000-79967200	Weak transcription	Fetal Muscle Leg	muscle
25	chr13:79953000-79967400	Weak transcription	Placenta	Placenta
26	chr13:79953200-79967400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr13:79954400-79969000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr13:79957000-79967200	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr13:79957000-79967200	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr13:79957200-79967000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr13:79957200-79967000	Weak transcription	Duodenum Mucosa	Duodenum
32	chr13:79957200-79967200	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr13:79958600-79971000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr13:79958800-79967200	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr13:79958800-79967600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr13:79958800-79969600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr13:79958800-79969800	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr13:79958800-79969800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr13:79958800-79971000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr13:79958800-79977800	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr13:79960200-79967200	Weak transcription	Fetal Heart	heart
42	chr13:79960400-79967400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr13:79960600-79967000	Weak transcription	Adipose Nuclei	Adipose
44	chr13:79960600-79967000	Weak transcription	Colon Smooth Muscle	Colon
45	chr13:79960600-79967000	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr13:79960600-79967000	Weak transcription	NHDF-Ad	bronchial
47	chr13:79960600-79969800	Weak transcription	HSMMtube	muscle
48	chr13:79960600-79975600	Weak transcription	Ovary	ovary
49	chr13:79960800-79967200	Weak transcription	HSMM	muscle
50	chr13:79960800-79971400	Weak transcription	NHLF	lung

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