Variant report

Variant	rs57454869
Chromosome Location	chr7:21984715-21984716
allele	A/C
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	STAT1	chr7:21984258-21986326	Hela-S3	cervix:	n/a	chr7:21985026-21985037
2	POLR2A	chr7:21984680-21984835	Hela-S3	cervix:	n/a	n/a
3	RELA	chr7:21984420-21985971	GM15510	blood:	n/a	n/a
4	TBP	chr7:21984287-21986247	Hela-S3	cervix:	n/a	n/a
5	CHD2	chr7:21984221-21986258	Hela-S3	cervix:	n/a	chr7:21985502-21985512
6	CHD2	chr7:21984318-21986229	H1-hESC	embryonic stem cell:	n/a	chr7:21985502-21985512
7	MYC	chr7:21984247-21986220	NB4	blood:	n/a	chr7:21984693-21984701
8	POLR2A	chr7:21984156-21986103	HL-60	blood:	n/a	n/a
9	MAX	chr7:21984266-21986319	Hela-S3	cervix:	n/a	chr7:21984693-21984701
10	MYC	chr7:21984346-21986193	MCF10A-Er-Src	breast:	n/a	chr7:21984693-21984701
11	RCOR1	chr7:21984299-21985874	GM12878	blood:	n/a	n/a
12	MYC	chr7:21984333-21986293	Hela-S3	cervix:	n/a	chr7:21984693-21984701
13	BRCA1	chr7:21984317-21986193	Hela-S3	cervix:	n/a	n/a
14	KAP1	chr7:21984216-21986180	HEK293	kidney:	n/a	n/a
15	MTA3	chr7:21984167-21986093	GM12878	blood:	n/a	n/a
16	STAT3	chr7:21984666-21985204	MCF10A-Er-Src	breast:	n/a	n/a
17	ELK4	chr7:21984328-21984938	Hela-S3	cervix:	n/a	n/a
18	MAZ	chr7:21984260-21986001	GM12878	blood:	n/a	chr7:21984693-21984701
19	GTF2F1	chr7:21984391-21986314	Hela-S3	cervix:	n/a	n/a
20	MAX	chr7:21984163-21984739	ECC-1	luminal epithelium:	n/a	chr7:21984693-21984701
21	TCF12	chr7:21984231-21984739	ECC-1	luminal epithelium:	n/a	chr7:21984623-21984632
22	HA-E2F1	chr7:21984053-21986311	MCF-7	breast:	n/a	chr7:21985238-21985252 chr7:21985091-21985100 chr7:21984387-21984396 chr7:21985241-21985255 chr7:21985675-21985685 chr7:21985375-21985384
23	ZNF263	chr7:21984142-21986149	HEK293-T-REx	kidney:	n/a	n/a
24	PML	chr7:21984474-21986133	GM12878	blood:	n/a	n/a
25	JUND	chr7:21984510-21986177	H1-hESC	embryonic stem cell:	n/a	chr7:21985475-21985483 chr7:21985378-21985387
26	POLR2A	chr7:21984175-21984903	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr7:21984291-21986183	GM18505	blood:	n/a	n/a
28	POLR2A	chr7:21984148-21984857	H1-hESC	embryonic stem cell:	n/a	n/a
29	NFIC	chr7:21984357-21986004	GM12878	blood:	n/a	n/a
30	POLR2A	chr7:21984207-21986270	Hela-S3	cervix:	n/a	n/a
31	TBL1XR1	chr7:21984291-21986086	GM12878	blood:	n/a	n/a
32	SIN3A	chr7:21984140-21986096	H1-hESC	embryonic stem cell:	n/a	chr7:21985744-21985755 chr7:21985806-21985819 chr7:21985266-21985277 chr7:21985093-21985102 chr7:21985236-21985247
33	CHD1	chr7:21984059-21986341	H1-hESC	embryonic stem cell:	n/a	chr7:21985502-21985512
34	RCOR1	chr7:21984261-21986332	Hela-S3	cervix:	n/a	n/a
35	EP300	chr7:21984515-21986053	GM12878	blood:	n/a	chr7:21985504-21985520 chr7:21985227-21985243 chr7:21985093-21985109 chr7:21984622-21984632 chr7:21985545-21985554 chr7:21985374-21985390 chr7:21985545-21985561 chr7:21985739-21985755
36	MAX	chr7:21984157-21984732	HCT-116	colon:	n/a	chr7:21984693-21984701
37	BHLHE40	chr7:21984123-21986080	GM12878	blood:	n/a	chr7:21985817-21985833 chr7:21985374-21985390
38	MXI1	chr7:21984270-21986170	IMR90	lung:	n/a	n/a
39	MAX	chr7:21984102-21984725	A549	lung:	n/a	chr7:21984693-21984701
40	POLR2A	chr7:21984175-21986315	GM12891	blood:	n/a	n/a
41	POLR2A	chr7:21984201-21986300	Hela-S3	cervix:	n/a	n/a
42	NFIC	chr7:21984161-21986390	ECC-1	luminal epithelium:	n/a	n/a
43	ATF2	chr7:21984280-21985304	GM12878	blood:	n/a	n/a
44	FOXA1	chr7:21984215-21984860	T-47D	breast:	n/a	chr7:21984426-21984441
45	POLR2A	chr7:21984246-21984806	H1-hESC	embryonic stem cell:	n/a	n/a
46	CHD1	chr7:21984151-21986035	GM12878	blood:	n/a	chr7:21985502-21985512
47	MYC	chr7:21984276-21986219	MCF10A-Er-Src	breast:	n/a	chr7:21984693-21984701
48	POLR2A	chr7:21984196-21986203	Raji	blood:	n/a	n/a
49	MXI1	chr7:21984179-21986223	Hela-S3	cervix:	n/a	n/a
50	SMC3	chr7:21984241-21986496	Hela-S3	cervix:	n/a	chr7:21985675-21985685

No.	Distal block	Cell Line	Cell type
1	chr19:17580988..17581621-chr7:21984621..21985394,2	Hela-S3	cervix:
2	chr15:65588158..65588861-chr7:21984144..21985018,2	Hela-S3	cervix:
3	chr7:21984509..21985113-chr7:27779779..27780555,2	Hela-S3	cervix:
4	chr5:179126005..179126615-chr7:21984529..21985309,2	Hela-S3	cervix:
5	chr1:155880615..155881579-chr7:21984391..21985346,2	Hela-S3	cervix:
6	chr7:21984666..21985472-chrX:12993060..12993695,2	Hela-S3	cervix:

Variant related genes	Relation type
CDCA7L	TF binding region
ENSG00000143622	Chromatin interaction
ENSG00000106052	Chromatin interaction
ENSG00000127022	Chromatin interaction
ENSG00000199568	Chromatin interaction
ENSG00000229893	Chromatin interaction
ENSG00000130304	Chromatin interaction
ENSG00000205542	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10254656	0.94[ASN][1000 genomes]
rs1174988	1.00[EUR][1000 genomes]
rs1174997	1.00[EUR][1000 genomes]
rs1174999	1.00[EUR][1000 genomes]
rs1406706	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1534763	1.00[EUR][1000 genomes]
rs17145921	0.96[ASN][1000 genomes]
rs17145923	0.94[ASN][1000 genomes]
rs1730902	1.00[EUR][1000 genomes]
rs4521668	1.00[EUR][1000 genomes]
rs57121717	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57334490	0.81[ASN][1000 genomes]
rs6461618	1.00[EUR][1000 genomes]
rs73268748	1.00[EUR][1000 genomes]
rs73268753	1.00[EUR][1000 genomes]
rs73268755	1.00[EUR][1000 genomes]
rs73268756	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018133	chr7:21740118-22055283	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv870325	chr7:21979039-22120493	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:21982800-21985800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr7:21983000-21984800	Flanking Active TSS	Primary B cells from cord blood	blood
3	chr7:21983200-21985800	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr7:21983200-21985800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr7:21983400-21986000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr7:21983600-21985400	Active TSS	Stomach Smooth Muscle	stomach
7	chr7:21983600-21985800	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr7:21983600-21985800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr7:21983600-21986000	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr7:21983600-21986000	Active TSS	iPS-18 Cell Line	embryonic stem cell
11	chr7:21983600-21986000	Active TSS	Duodenum Smooth Muscle	Duodenum
12	chr7:21983600-21986000	Active TSS	Ovary	ovary
13	chr7:21983600-21986000	Active TSS	Right Ventricle	heart
14	chr7:21983600-21986200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr7:21983600-21986200	Active TSS	NHDF-Ad	bronchial
16	chr7:21983800-21985200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr7:21983800-21985400	Active TSS	Primary hematopoietic stem cells short term culture	blood
18	chr7:21983800-21985400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr7:21983800-21985400	Active TSS	Fetal Heart	heart
20	chr7:21983800-21985600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr7:21983800-21985600	Active TSS	Thymus	Thymus
22	chr7:21983800-21985800	Active TSS	Cortex derived primary cultured neurospheres	brain
23	chr7:21983800-21985800	Active TSS	GM12878-XiMat	blood
24	chr7:21983800-21985800	Active TSS	NHEK	skin
25	chr7:21983800-21986000	Active TSS	iPS-15b Cell Line	embryonic stem cell
26	chr7:21983800-21986000	Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr7:21983800-21986000	Active TSS	Colon Smooth Muscle	Colon
28	chr7:21984000-21985000	Flanking Active TSS	Primary hematopoietic stem cells	blood
29	chr7:21984000-21985000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
30	chr7:21984000-21985000	Flanking Active TSS	NH-A	brain
31	chr7:21984000-21985000	Flanking Active TSS	Osteobl	bone
32	chr7:21984000-21985400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
33	chr7:21984000-21985400	Flanking Active TSS	Adipose Nuclei	Adipose
34	chr7:21984000-21985600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr7:21984000-21985600	Active TSS	Fetal Intestine Small	intestine
36	chr7:21984000-21985600	Active TSS	Fetal Stomach	stomach
37	chr7:21984000-21985800	Active TSS	H1 Cell Line	embryonic stem cell
38	chr7:21984000-21985800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr7:21984000-21985800	Active TSS	Fetal Lung	lung
40	chr7:21984000-21985800	Active TSS	HSMMtube	muscle
41	chr7:21984000-21985800	Active TSS	NHLF	lung
42	chr7:21984000-21986000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr7:21984000-21986000	Active TSS	Breast Myoepithelial Primary Cells	Breast
44	chr7:21984000-21986000	Active TSS	Fetal Kidney	kidney
45	chr7:21984000-21986000	Active TSS	Right Atrium	heart
46	chr7:21984000-21986000	Active TSS	A549	lung
47	chr7:21984000-21986200	Active TSS	H9 Cell Line	embryonic stem cell
48	chr7:21984000-21986200	Active TSS	Brain Angular Gyrus	brain
49	chr7:21984000-21986800	Active TSS	Rectal Smooth Muscle	rectum
50	chr7:21984200-21984800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood

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