Variant report

Variant	rs3132573
Chromosome Location	chr6:30840688-30840689
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:101)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:101 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA1	chr6:30840185-30841023	PBDE	blood:	n/a	n/a
2	ELF1	chr6:30840292-30841007	K562	blood:	n/a	n/a
3	MAZ	chr6:30840205-30841144	K562	blood:	n/a	n/a
4	HDAC2	chr6:30840313-30840701	K562	blood:	n/a	n/a
5	NFE2	chr6:30840506-30841034	K562	blood:	n/a	chr6:30840835-30840850
6	MYC	chr6:30840273-30841221	K562	blood:	n/a	n/a
7	JUND	chr6:30840243-30841102	K562	blood:	n/a	n/a
8	CHD2	chr6:30840249-30840850	K562	blood:	n/a	n/a
9	TBL1XR1	chr6:30840323-30841165	K562	blood:	n/a	n/a
10	HCFC1	chr6:30840339-30840862	K562	blood:	n/a	n/a
11	PML	chr6:30840147-30841124	K562	blood:	n/a	n/a
12	IRF1	chr6:30840191-30841235	K562	blood:	n/a	n/a
13	POLR2A	chr6:30840205-30841238	K562	blood:	n/a	n/a
14	CEBPD	chr6:30840203-30840934	K562	blood:	n/a	n/a
15	POLR2A	chr6:30840234-30841201	K562	blood:	n/a	n/a
16	UBTF	chr6:30840326-30841157	K562	blood:	n/a	n/a
17	EP300	chr6:30840172-30841295	K562	blood:	n/a	n/a
18	POLR2A	chr6:30840154-30841353	K562	blood:	n/a	n/a
19	RCOR1	chr6:30840197-30841289	K562	blood:	n/a	n/a
20	NFYB	chr6:30840277-30841212	K562	blood:	n/a	n/a
21	SPI1	chr6:30840291-30840725	K562	blood:	n/a	n/a
22	EP300	chr6:30840475-30840999	GM12878	blood:	n/a	n/a
23	POLR2A	chr6:30840020-30840981	K562	blood:	n/a	n/a
24	JUN	chr6:30840305-30841024	K562	blood:	n/a	n/a
25	YY1	chr6:30840268-30840978	K562	blood:	n/a	n/a
26	RFX5	chr6:30840421-30840750	K562	blood:	n/a	n/a
27	POLR2A	chr6:30840182-30841193	K562	blood:	n/a	n/a
28	POLR2A	chr6:30840217-30841179	K562	blood:	n/a	n/a
29	POLR2A	chr6:30840090-30841168	K562	blood:	n/a	n/a
30	PML	chr6:30840046-30841317	K562	blood:	n/a	n/a
31	ARID3A	chr6:30839687-30841416	K562	blood:	n/a	n/a
32	GABPA	chr6:30840141-30840816	K562	blood:	n/a	n/a
33	STAT5A	chr6:30840115-30841100	K562	blood:	n/a	n/a
34	RCOR1	chr6:30840207-30840975	K562	blood:	n/a	n/a
35	CCNT2	chr6:30840328-30840930	K562	blood:	n/a	n/a
36	JUN	chr6:30839273-30841862	K562	blood:	n/a	n/a
37	STAT5A	chr6:30840139-30840759	K562	blood:	n/a	n/a
38	ELK1	chr6:30840332-30840694	K562	blood:	n/a	n/a
39	GATA2	chr6:30840194-30840909	K562	blood:	n/a	n/a
40	MYC	chr6:30840235-30841203	K562	blood:	n/a	n/a
41	BHLHE40	chr6:30840273-30840935	K562	blood:	n/a	n/a
42	YY1	chr6:30840111-30840977	K562	blood:	n/a	n/a
43	TRIM28	chr6:30840083-30841245	K562	blood:	n/a	n/a
44	TBL1XR1	chr6:30840190-30841523	K562	blood:	n/a	n/a
45	NFYA	chr6:30840356-30841120	K562	blood:	n/a	chr6:30840879-30840897
46	POLR2A	chr6:30840113-30841109	K562	blood:	n/a	n/a
47	GATA2	chr6:30840193-30840975	K562	blood:	n/a	n/a
48	NR2F2	chr6:30840047-30840997	K562	blood:	n/a	n/a
49	HMGN3	chr6:30840361-30840689	K562	blood:	n/a	n/a
50	TAF7	chr6:30840121-30840732	K562	blood:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:30834603..30837451-chr6:30838761..30841524,2	K562	blood:
2	chr6:30719980..30722525-chr6:30838687..30841079,2	K562	blood:
3	chr6:30839220..30842043-chr6:31051399..31053018,2	K562	blood:
4	chr6:30830814..30832373-chr6:30839060..30840991,2	K562	blood:
5	chr6:30794216..30799803-chr6:30838849..30846731,16	K562	blood:
6	chr6:30830873..30832783-chr6:30839060..30841314,2	K562	blood:
7	chr6:30780089..30782522-chr6:30839223..30841388,2	K562	blood:
8	chr6:30788098..30790149-chr6:30839123..30842076,2	K562	blood:
9	chr6:30794216..30796445-chr6:30839045..30841799,3	K562	blood:
10	chr6:30839434..30840987-chr6:30849021..30851582,2	MCF-7	breast:
11	chr6:30687742..30690714-chr6:30839497..30842060,3	K562	blood:
12	chr6:30521625..30525258-chr6:30837019..30840753,3	K562	blood:

No data

Variant related genes	Relation type
DDR1	TF binding region
ENSG00000204576	Chromatin interaction
ENSG00000196230	Chromatin interaction
ENSG00000202241	Chromatin interaction
ENSG00000204580	Chromatin interaction
ENSG00000204590	Chromatin interaction
ENSG00000214894	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs2394449	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2394450	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2394451	0.86[ASN][1000 genomes]
rs2517582	0.83[ASN][1000 genomes]
rs2535338	0.85[ASN][1000 genomes]
rs3094109	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3094720	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3095342	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3095343	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3095344	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3095346	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3095348	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3095349	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3095350	0.83[EUR][1000 genomes]
rs3095351	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3095352	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3095354	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3129990	0.86[EUR][1000 genomes]
rs3129993	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3130647	0.84[EUR][1000 genomes]
rs3130649	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3130650	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3130651	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3130652	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3130653	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3130655	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3130656	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3130786	0.88[EUR][1000 genomes]
rs3130787	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3130789	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3130791	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3130792	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3130793	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3130794	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3130795	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3130796	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3131027	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3131030	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3131031	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3131033	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3131066	0.88[EUR][1000 genomes]
rs3132574	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3132575	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3132576	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3132578	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9262251	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3519970	chr6:30382942-31378788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
2	esv3519971	chr6:30382942-31378788	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
3	nsv601481	chr6:30422632-31284253	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1012 gene(s)	inside rSNPs	diseases
4	nsv1015372	chr6:30704734-31582152	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
5	nsv538173	chr6:30704734-31582152	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
6	nsv884109	chr6:30824532-30872203	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs3132573	HIST1H2AL	cis	cerebellum	SCAN
rs3132573	HCG22	cis	lymphoblastoid	seeQTL

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30838400-30840800	ZNF genes & repeats	Dnd41	blood
2	chr6:30838800-30845000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr6:30838800-30845200	Weak transcription	Right Atrium	heart
4	chr6:30839800-30840800	ZNF genes & repeats	Thymus	Thymus
5	chr6:30839800-30845000	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr6:30840000-30842000	Flanking Active TSS	K562	blood
7	chr6:30840000-30845000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr6:30840400-30841200	ZNF genes & repeats	Placenta	Placenta
9	chr6:30840400-30842600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr6:30840600-30841000	Enhancers	Hela-S3	cervix

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