Variant report

Variant	rs9436125
Chromosome Location	chr1:150487961-150487962
allele	C/G
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	TBP	chr1:150487588-150488555	K562	blood:	n/a	n/a
2	MAFK	chr1:150487809-150488213	HepG2	liver:	n/a	n/a
3	POLR2A	chr1:150487752-150488456	Gliobla	brain:	n/a	n/a
4	MAX	chr1:150487929-150488499	K562	blood:	n/a	n/a
5	GTF2B	chr1:150487939-150488238	K562	blood:	n/a	n/a
6	POLR2A	chr1:150487595-150488533	SK-N-SH	brain:	n/a	n/a
7	SP1	chr1:150487745-150488343	H1-hESC	embryonic stem cell:	n/a	chr1:150488119-150488129 chr1:150488088-150488109 chr1:150488120-150488129 chr1:150488118-150488130 chr1:150488118-150488130 chr1:150488119-150488129 chr1:150488119-150488128 chr1:150488119-150488128
8	POLR2A	chr1:150487790-150488517	A549	lung:	n/a	n/a
9	FOS	chr1:150487909-150488244	K562	blood:	n/a	chr1:150488091-150488100
10	POLR2A	chr1:150487631-150488525	HUVEC	blood vessel:	n/a	n/a
11	MAX	chr1:150487885-150488490	K562	blood:	n/a	n/a
12	MXI1	chr1:150487916-150488428	GM12878	blood:	n/a	chr1:150488069-150488078
13	POLR2A	chr1:150487719-150488651	PFSK-1	brain:	n/a	n/a
14	KAP1	chr1:150487587-150488329	U2OS	brain:	n/a	n/a
15	CTCF	chr1:150487860-150488010	HVMF	connective:	n/a	n/a
16	STAT1	chr1:150487764-150488364	GM12878	blood:	n/a	n/a
17	MAX	chr1:150487940-150488538	ECC-1	luminal epithelium:	n/a	n/a
18	EBF1	chr1:150487579-150487983	GM12878	blood:	n/a	chr1:150487794-150487804 chr1:150487794-150487803 chr1:150487793-150487804
19	RCOR1	chr1:150487908-150488435	Hela-S3	cervix:	n/a	n/a
20	PML	chr1:150487666-150488465	K562	blood:	n/a	n/a
21	POLR2A	chr1:150487776-150488440	GM12878	blood:	n/a	n/a
22	TCF7L2	chr1:150487079-150488431	HEK293	kidney:	n/a	chr1:150487621-150487630
23	FOXM1	chr1:150487722-150488419	GM12878	blood:	n/a	n/a
24	USF2	chr1:150487935-150488321	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr1:150487813-150488314	K562	blood:	n/a	n/a
26	TAF1	chr1:150487730-150488421	K562	blood:	n/a	n/a
27	MAX	chr1:150487886-150488516	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr1:150487737-150488028	H1-hESC	embryonic stem cell:	n/a	n/a
29	EP300	chr1:150487794-150488130	K562	blood:	n/a	n/a
30	TCF7L2	chr1:150487534-150488420	MCF-7	breast:	n/a	chr1:150487621-150487630
31	PBX3	chr1:150487574-150488541	SK-N-SH	brain:	n/a	chr1:150488090-150488099 chr1:150488073-150488082
32	TCF7L2	chr1:150487493-150488435	Hela-S3	cervix:	n/a	chr1:150487621-150487630
33	POLR2A	chr1:150487672-150488485	HepG2	liver:	n/a	n/a
34	POLR2A	chr1:150487707-150488524	PFSK-1	brain:	n/a	n/a
35	POLR2A	chr1:150487763-150488459	MCF-7	breast:	n/a	n/a
36	TAF1	chr1:150487570-150488430	MCF-7	breast:	n/a	n/a
37	POLR2A	chr1:150487778-150488527	HUVEC	blood vessel:	n/a	n/a
38	E2F6	chr1:150487618-150488475	K562	blood:	n/a	chr1:150488214-150488223
39	POLR2A	chr1:150487560-150488653	SK-N-MC	brain:	n/a	n/a
40	CHD2	chr1:150487774-150488414	K562	blood:	n/a	n/a
41	CHD2	chr1:150487878-150488397	Hela-S3	cervix:	n/a	n/a
42	BHLHE40	chr1:150487877-150488281	GM12878	blood:	n/a	n/a
43	POLR2A	chr1:150487558-150488475	K562	blood:	n/a	n/a
44	MAFK	chr1:150487861-150488082	K562	blood:	n/a	n/a
45	MYC	chr1:150487628-150489424	K562	blood:	n/a	chr1:150488736-150488746
46	MXI1	chr1:150487303-150489576	SK-N-SH	brain:	n/a	chr1:150488069-150488078
47	POLR2A	chr1:150487839-150488497	SK-N-MC	brain:	n/a	n/a
48	POLR2A	chr1:150487734-150488431	K562	blood:	n/a	n/a
49	PAX5	chr1:150487729-150488240	GM12878	blood:	n/a	n/a
50	JUND	chr1:150487600-150488262	H1-hESC	embryonic stem cell:	n/a	chr1:150488091-150488100

No.	Distal block	Cell Line	Cell type
1	chr1:150234614..150237282-chr1:150487610..150489545,2	K562	blood:
2	chr1:150486264..150488828-chr1:150527799..150530470,2	K562	blood:
3	chr1:150458274..150463765-chr1:150483214..150490747,8	K562	blood:
4	chr1:150458065..150461622-chr1:150486691..150490573,5	MCF-7	breast:
5	chr1:150486269..150489101-chr1:150530293..150532763,2	MCF-7	breast:
6	chr1:150487333..150489679-chr1:150520233..150523176,3	MCF-7	breast:
7	chr1:150458483..150461483-chr1:150486453..150489390,6	MCF-7	breast:
8	chr1:150485975..150488334-chr1:151205164..151207735,2	K562	blood:
9	chr1:150335902..150337829-chr1:150486316..150488661,2	MCF-7	breast:

Variant related genes	Relation type
LINC00568	TF binding region
ENSG00000118298	Chromatin interaction
ENSG00000143374	Chromatin interaction
ENSG00000163125	Chromatin interaction
ENSG00000143382	Chromatin interaction
ENSG00000225996	Chromatin interaction
ENSG00000143398	Chromatin interaction
ENSG00000237781	Chromatin interaction

Extended variants
information (count: 80 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs11205385	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11577600	0.84[AMR][1000 genomes]
rs11577843	0.80[AMR][1000 genomes]
rs11581351	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11582423	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11587116	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11587575	0.90[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11590324	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11590787	0.80[AMR][1000 genomes]
rs12023378	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12028001	0.82[AMR][1000 genomes]
rs12040949	0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12042229	0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12042579	0.90[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12045304	0.83[AMR][1000 genomes]
rs12046446	0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1260389	0.86[AMR][1000 genomes]
rs1260411	0.83[AMR][1000 genomes]
rs1260421	0.85[AMR][1000 genomes]
rs13294	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1625468	0.82[AMR][1000 genomes]
rs1627235	0.85[AMR][1000 genomes]
rs1631973	0.84[AMR][1000 genomes]
rs1694362	0.85[AMR][1000 genomes]
rs1694369	0.80[AMR][1000 genomes]
rs1694385	0.80[AMR][1000 genomes]
rs17596326	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs17597088	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1815544	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1972031	0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2794681	0.82[AMR][1000 genomes]
rs2794684	0.81[AMR][1000 genomes]
rs2794685	0.80[AMR][1000 genomes]
rs2867893	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2867894	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2873669	0.89[AMR][1000 genomes]
rs3737240	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3738487	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3820544	0.90[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs3896342	0.89[AMR][1000 genomes]
rs4446975	0.81[ASN][1000 genomes]
rs4451552	0.81[ASN][1000 genomes]
rs45595332	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4926436	0.82[AMR][1000 genomes]
rs4926437	0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4970971	0.81[ASN][1000 genomes]
rs55742549	0.83[AMR][1000 genomes]
rs55823828	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55928222	0.89[AMR][1000 genomes]
rs55996928	0.86[AMR][1000 genomes]
rs59898460	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6662108	0.86[AMR][1000 genomes]
rs6672808	0.89[AMR][1000 genomes]
rs6703652	0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs696616	0.80[AMR][1000 genomes]
rs698916	0.80[AMR][1000 genomes]
rs698919	0.80[AMR][1000 genomes]
rs698923	0.87[AMR][1000 genomes]
rs7002	0.87[AMR][1000 genomes]
rs72696885	0.84[AMR][1000 genomes]
rs72696900	0.82[AMR][1000 genomes]
rs7513205	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7523428	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7539458	0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7553867	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs828783	0.84[AMR][1000 genomes]
rs832622	0.80[AMR][1000 genomes]
rs834229	0.87[AMR][1000 genomes]
rs834230	0.87[AMR][1000 genomes]
rs834231	0.80[AMR][1000 genomes]
rs844309	0.85[AMR][1000 genomes]
rs9436007	0.89[AMR][1000 genomes]
rs9436008	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs9436112	0.80[AMR][1000 genomes]
rs9436115	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs9436119	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs9436127	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[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	nsv916014	chr1:150187139-150537483	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
2	nsv1006838	chr1:150440214-150722783	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
3	esv1814231	chr1:150479528-150540117	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	71 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9436125	MRPS21	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150487200-150488200	Flanking Active TSS	Stomach Smooth Muscle	stomach
2	chr1:150487200-150488800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr1:150487200-150488800	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr1:150487200-150488800	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr1:150487200-150489000	Active TSS	H1 Cell Line	embryonic stem cell
6	chr1:150487200-150489000	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr1:150487200-150489200	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr1:150487400-150488000	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr1:150487400-150488000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
10	chr1:150487400-150488000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
11	chr1:150487400-150488000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
12	chr1:150487400-150488000	Flanking Active TSS	Liver	Liver
13	chr1:150487400-150488000	Flanking Active TSS	Duodenum Mucosa	Duodenum
14	chr1:150487400-150488000	Flanking Active TSS	Placenta	Placenta
15	chr1:150487400-150488000	Flanking Active TSS	Fetal Thymus	thymus
16	chr1:150487400-150488000	Flanking Active TSS	HMEC	breast
17	chr1:150487400-150488000	Flanking Active TSS	HSMMtube	muscle
18	chr1:150487400-150488000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
19	chr1:150487400-150488000	Flanking Active TSS	NHEK	skin
20	chr1:150487400-150488200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
21	chr1:150487400-150488200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr1:150487400-150488400	Active TSS	Breast Myoepithelial Primary Cells	Breast
23	chr1:150487400-150488600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
24	chr1:150487400-150488600	Active TSS	HUVEC	blood vessel
25	chr1:150487400-150488800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr1:150487400-150488800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr1:150487400-150488800	Active TSS	HUES48 Cell Line	embryonic stem cell
28	chr1:150487400-150488800	Active TSS	iPS-18 Cell Line	embryonic stem cell
29	chr1:150487400-150488800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr1:150487400-150488800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
31	chr1:150487400-150488800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr1:150487400-150488800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
33	chr1:150487400-150488800	Active TSS	Primary T killer memory cells from peripheral blood	blood
34	chr1:150487400-150488800	Active TSS	Brain Substantia Nigra	brain
35	chr1:150487400-150488800	Active TSS	Colon Smooth Muscle	Colon
36	chr1:150487400-150488800	Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr1:150487400-150488800	Active TSS	Pancreas	Pancrea
38	chr1:150487400-150488800	Active TSS	Psoas Muscle	Psoas
39	chr1:150487400-150488800	Active TSS	Rectal Smooth Muscle	rectum
40	chr1:150487400-150488800	Active TSS	K562	blood
41	chr1:150487400-150488800	Active TSS	NH-A	brain
42	chr1:150487400-150489000	Active TSS	Pancreatic Islets	Pancreatic Islet
43	chr1:150487400-150489000	Flanking Active TSS	Fetal Muscle Trunk	muscle
44	chr1:150487400-150489000	Active TSS	Left Ventricle	heart
45	chr1:150487400-150489000	Active TSS	Ovary	ovary
46	chr1:150487400-150489000	Active TSS	Right Atrium	heart
47	chr1:150487400-150489000	Active TSS	Right Ventricle	heart
48	chr1:150487400-150489000	Active TSS	A549	lung
49	chr1:150487400-150489200	Active TSS	H9 Cell Line	embryonic stem cell
50	chr1:150487400-150489200	Flanking Active TSS	Primary B cells from cord blood	blood

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