Variant report

Variant	rs6728128
Chromosome Location	chr2:73595982-73595983
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	MAFF	chr2:73595888-73596328	K562	blood:	n/a	n/a
2	RCOR1	chr2:73595971-73596142	K562	blood:	n/a	n/a
3	CTCF	chr2:73595860-73596010	HEK293	kidney:	n/a	n/a
4	EP300	chr2:73595681-73596279	K562	blood:	n/a	n/a
5	ATF1	chr2:73595903-73596308	K562	blood:	n/a	n/a
6	CEBPD	chr2:73595870-73596334	K562	blood:	n/a	n/a
7	GATA1	chr2:73595656-73596290	PBDE	blood:	n/a	chr2:73595795-73595805 chr2:73595795-73595802 chr2:73595795-73595802 chr2:73595795-73595802
8	GATA2	chr2:73595939-73596217	K562	blood:	n/a	n/a
9	TBL1XR1	chr2:73595971-73596197	K562	blood:	n/a	n/a
10	JUN	chr2:73595943-73596252	K562	blood:	n/a	n/a
11	CEBPD	chr2:73595866-73596269	K562	blood:	n/a	n/a
12	MYC	chr2:73595850-73596219	K562	blood:	n/a	n/a
13	ZNF143	chr2:73595950-73596078	K562	blood:	n/a	n/a
14	RCOR1	chr2:73595893-73596262	K562	blood:	n/a	n/a
15	BHLHE40	chr2:73595884-73596202	K562	blood:	n/a	n/a
16	NFE2	chr2:73595980-73596318	K562	blood:	n/a	chr2:73596146-73596161
17	CEBPB	chr2:73595878-73596295	K562	blood:	n/a	n/a
18	RFX5	chr2:73595963-73596214	K562	blood:	n/a	n/a
19	ZMIZ1	chr2:73595929-73596238	K562	blood:	n/a	n/a
20	TBL1XR1	chr2:73595902-73596270	K562	blood:	n/a	n/a
21	CTCF	chr2:73595974-73596001	K562	blood:	n/a	n/a
22	ZC3H11A	chr2:73595949-73596177	K562	blood:	n/a	n/a
23	MAFK	chr2:73595954-73596199	HepG2	liver:	n/a	n/a
24	MAFK	chr2:73595871-73596314	K562	blood:	n/a	n/a
25	CEBPB	chr2:73595897-73596293	K562	blood:	n/a	n/a
26	ATF3	chr2:73595853-73596244	K562	blood:	n/a	n/a
27	CCNT2	chr2:73595922-73596255	K562	blood:	n/a	n/a
28	TEAD4	chr2:73595820-73596309	K562	blood:	n/a	n/a
29	TAL1	chr2:73595919-73596260	K562	blood:	n/a	n/a
30	JUN	chr2:73595778-73596357	K562	blood:	n/a	chr2:73595838-73595847
31	GATA1	chr2:73595367-73596385	K562	blood:	n/a	chr2:73595795-73595805 chr2:73595795-73595802 chr2:73595795-73595802 chr2:73595795-73595802
32	JUND	chr2:73595868-73596301	K562	blood:	n/a	n/a
33	CEBPB	chr2:73595941-73596222	K562	blood:	n/a	n/a
34	HMGN3	chr2:73595929-73596121	K562	blood:	n/a	n/a
35	JUN	chr2:73595879-73596305	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:73589589..73591122-chr2:73593643..73596027,2	MCF-7	breast:
2	chr2:73590790..73592935-chr2:73594185..73596507,2	K562	blood:

Variant related genes	Relation type
ENSG00000214484	TF binding region

Extended variants
information (count: 32 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10165862	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10175529	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10206188	0.82[ASN][1000 genomes]
rs11126395	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11126396	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11126399	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11693531	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11898362	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12465867	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1403412	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1522926	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1851546	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1852644	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2091022	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2901437	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35885918	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6546824	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6546826	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6546827	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6546829	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6706235	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6706409	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6710659	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6716776	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6747145	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6748040	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7560272	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7567017	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7567343	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7573275	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7576824	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7604588	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs6728128	ALMS1	cis	Whole Blood	GTEx
rs6728128	ALMS1P	cis	Skin Sun Exposed Lower leg	GTEx
rs6728128	TPRKB	Cis_1M	lymphoblastoid	RTeQTL
rs6728128	ALMS1P	cis	Whole Blood	GTEx
rs6728128	ALMS1	Cis_1M	lymphoblastoid	RTeQTL
rs6728128	ALMS1P	cis	Thyroid	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73595800-73596200	Enhancers	H9 Cell Line	embryonic stem cell
2	chr2:73595800-73596600	Enhancers	K562	blood

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