Variant report

Variant	rs57849806
Chromosome Location	chr6:131967804-131967805
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:62)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:62 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA2	chr6:131967331-131967898	K562	blood:	n/a	n/a
2	ATF3	chr6:131967394-131967876	K562	blood:	n/a	n/a
3	ZNF143	chr6:131967336-131967829	K562	blood:	n/a	n/a
4	TEAD4	chr6:131967342-131967987	K562	blood:	n/a	n/a
5	CEBPB	chr6:131967362-131967840	K562	blood:	n/a	n/a
6	ZNF384	chr6:131967397-131968336	K562	blood:	n/a	n/a
7	JUND	chr6:131967367-131967898	K562	blood:	n/a	n/a
8	STAT5A	chr6:131967304-131967892	K562	blood:	n/a	n/a
9	PML	chr6:131967306-131967935	K562	blood:	n/a	n/a
10	CEBPB	chr6:131967452-131967842	K562	blood:	n/a	n/a
11	MAX	chr6:131967532-131967807	K562	blood:	n/a	n/a
12	TAF1	chr6:131967471-131967839	K562	blood:	n/a	n/a
13	ZMIZ1	chr6:131967372-131967861	K562	blood:	n/a	n/a
14	GTF2F1	chr6:131967509-131967849	K562	blood:	n/a	n/a
15	PML	chr6:131967278-131967858	K562	blood:	n/a	n/a
16	TEAD4	chr6:131967306-131967944	K562	blood:	n/a	n/a
17	TRIM28	chr6:131967283-131967946	K562	blood:	n/a	n/a
18	NR2F2	chr6:131967377-131967811	K562	blood:	n/a	n/a
19	CEBPD	chr6:131967331-131967920	K562	blood:	n/a	n/a
20	IRF1	chr6:131966820-131967849	K562	blood:	n/a	n/a
21	MEF2A	chr6:131967469-131967922	K562	blood:	n/a	chr6:131967747-131967763 chr6:131967746-131967767 chr6:131967748-131967763 chr6:131967751-131967760 chr6:131967749-131967760
22	CBX3	chr6:131966999-131967860	K562	blood:	n/a	n/a
23	GATA2	chr6:131967434-131967863	K562	blood:	n/a	n/a
24	MXI1	chr6:131967461-131967830	K562	blood:	n/a	n/a
25	POLR2A	chr6:131967285-131968028	K562	blood:	n/a	n/a
26	MYC	chr6:131967457-131968246	K562	blood:	n/a	n/a
27	TBL1XR1	chr6:131967361-131967882	K562	blood:	n/a	n/a
28	EGR1	chr6:131967502-131967845	K562	blood:	n/a	n/a
29	MYC	chr6:131966589-131968361	K562	blood:	n/a	n/a
30	POLR2A	chr6:131967457-131967859	K562	blood:	n/a	n/a
31	POLR2A	chr6:131967287-131967867	K562	blood:	n/a	n/a
32	MAZ	chr6:131967443-131967884	K562	blood:	n/a	n/a
33	EP300	chr6:131967337-131967821	K562	blood:	n/a	n/a
34	GABPA	chr6:131967446-131967852	K562	blood:	n/a	n/a
35	POLR2A	chr6:131967074-131967984	PBDE	blood:	n/a	n/a
36	CUX1	chr6:131966873-131967877	K562	blood:	n/a	n/a
37	TBL1XR1	chr6:131967396-131967871	K562	blood:	n/a	n/a
38	NR2F2	chr6:131967283-131968063	K562	blood:	n/a	n/a
39	RCOR1	chr6:131967353-131967935	K562	blood:	n/a	n/a
40	CEBPD	chr6:131967323-131967896	K562	blood:	n/a	n/a
41	EP300	chr6:131967548-131967838	GM12878	blood:	n/a	n/a
42	HCFC1	chr6:131967473-131967825	K562	blood:	n/a	n/a
43	RCOR1	chr6:131967401-131967853	K562	blood:	n/a	n/a
44	REST	chr6:131967460-131967808	K562	blood:	n/a	n/a
45	ATF1	chr6:131967475-131967831	K562	blood:	n/a	n/a
46	POLR2A	chr6:131967413-131967849	K562	blood:	n/a	n/a
47	ZNF274	chr6:131967432-131967912	K562	blood:	n/a	n/a
48	IRF1	chr6:131966477-131967969	K562	blood:	n/a	n/a
49	MEF2A	chr6:131967404-131967946	K562	blood:	n/a	chr6:131967747-131967763 chr6:131967746-131967767 chr6:131967748-131967763 chr6:131967751-131967760 chr6:131967749-131967760
50	CHD2	chr6:131967440-131967839	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr6:131966357..131970960-chr6:131971582..131976154,5	K562	blood:
2	chr6:131967667..131970959-chr6:131971563..131974259,5	K562	blood:
3	chr6:131945868..131955351-chr6:131956247..131968981,28	K562	blood:

No data

Variant related genes	Relation type
RNU4-18P	TF binding region
ENSG00000154269	Chromatin interaction
ENSG00000112282	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs17060430	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs2297637	0.82[EUR][1000 genomes]
rs73778022	0.82[EUR][1000 genomes]
rs9398991	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes];0.89[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	nsv515476	chr6:131615425-132228577	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv7968	chr6:131917172-132321099	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers 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	23 gene(s)	inside rSNPs	diseases
3	nsv830809	chr6:131953928-132126417	Bivalent Enhancer Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
4	nsv830810	chr6:131960923-132138396	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131949800-131983200	Weak transcription	Aorta	Aorta
2	chr6:131952600-131973800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr6:131959400-131970400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr6:131960000-131971400	Weak transcription	Fetal Intestine Small	intestine
5	chr6:131963000-131973800	Weak transcription	Small Intestine	intestine
6	chr6:131964200-131971000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr6:131964400-131973200	Weak transcription	Colonic Mucosa	Colon
8	chr6:131964800-131975200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr6:131966800-131970400	Weak transcription	Duodenum Mucosa	Duodenum
10	chr6:131967600-131968000	Enhancers	Rectal Mucosa Donor 29	rectum
11	chr6:131967800-131969800	Active TSS	K562	blood
12	chr6:131967800-131970400	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr6:131967800-131972200	Weak transcription	Fetal Intestine Large	intestine
14	chr6:131967800-131977600	Strong transcription	HepG2	liver

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