Variant report

Variant	rs10753773
Chromosome Location	chr1:168343349-168343350
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	EGR1	chr1:168343179-168343491	K562	blood:	n/a	chr1:168343324-168343338 chr1:168343326-168343336 chr1:168343325-168343336 chr1:168343325-168343336 chr1:168343326-168343336
2	EP300	chr1:168343205-168343460	K562	blood:	n/a	n/a
3	JUN	chr1:168343153-168343449	K562	blood:	n/a	chr1:168343288-168343300 chr1:168343289-168343299 chr1:168343290-168343298 chr1:168343289-168343299
4	FOSL1	chr1:168343153-168343439	K562	blood:	n/a	chr1:168343288-168343300 chr1:168343288-168343299 chr1:168343289-168343299 chr1:168343290-168343298 chr1:168343289-168343299
5	MAZ	chr1:168343209-168343449	K562	blood:	n/a	chr1:168343290-168343299
6	TEAD4	chr1:168343098-168343530	K562	blood:	n/a	n/a
7	BHLHE40	chr1:168343187-168343406	K562	blood:	n/a	n/a
8	RCOR1	chr1:168343195-168343453	K562	blood:	n/a	n/a
9	HDAC2	chr1:168343169-168343401	K562	blood:	n/a	n/a
10	MAFK	chr1:168343253-168343468	K562	blood:	n/a	n/a
11	MAX	chr1:168343111-168343386	K562	blood:	n/a	chr1:168343290-168343299
12	RCOR1	chr1:168343127-168343491	K562	blood:	n/a	n/a
13	EGR1	chr1:168343177-168343459	K562	blood:	n/a	chr1:168343324-168343338 chr1:168343326-168343336 chr1:168343325-168343336 chr1:168343325-168343336 chr1:168343326-168343336
14	CCNT2	chr1:168343207-168343407	K562	blood:	n/a	n/a
15	ATF3	chr1:168343126-168343426	K562	blood:	n/a	n/a
16	ARID3A	chr1:168343229-168343407	K562	blood:	n/a	n/a
17	FOS	chr1:168343141-168343447	MCF10A-Er-Src	breast:	n/a	chr1:168343288-168343300 chr1:168343289-168343299 chr1:168343290-168343298 chr1:168343289-168343299
18	TAL1	chr1:168343187-168344254	K562	blood:	n/a	chr1:168344038-168344056
19	MAFF	chr1:168343264-168343428	K562	blood:	n/a	n/a
20	FOSL1	chr1:168343174-168343438	K562	blood:	n/a	chr1:168343288-168343300 chr1:168343288-168343299 chr1:168343289-168343299 chr1:168343290-168343298 chr1:168343289-168343299
21	TBL1XR1	chr1:168343198-168343444	K562	blood:	n/a	n/a
22	JUN	chr1:168343125-168343467	K562	blood:	n/a	chr1:168343288-168343300 chr1:168343289-168343299 chr1:168343290-168343298 chr1:168343289-168343299
23	JUND	chr1:168343121-168343491	K562	blood:	n/a	chr1:168343288-168343300 chr1:168343289-168343299 chr1:168343290-168343298 chr1:168343289-168343299
24	FOS	chr1:168343254-168343407	MCF10A-Er-Src	breast:	n/a	chr1:168343288-168343300 chr1:168343289-168343299 chr1:168343290-168343298 chr1:168343289-168343299
25	IRF1	chr1:168343201-168343380	K562	blood:	n/a	chr1:168343290-168343299
26	ATF1	chr1:168343203-168343424	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:168343339-168343389	HAEpiC	amniotic membrane:	n/a
2	chr1:168343339-168343389	LNCaP	prostate:	n/a
3	chr1:168343339-168343389	GM19239	blood:	n/a
4	chr1:168343339-168343389	HRPEpiC	eye:	n/a
5	chr1:168343339-168343389	MCF-7	breast:	n/a
6	chr1:168343339-168343389	RPTEC	kidney:	n/a
7	chr1:168343339-168343389	IMR90	lung:	fetal
8	chr1:168343339-168343389	AG04449	skin:	fetal
9	chr1:168343339-168343389	SKMC	muscle:	n/a
10	chr1:168343339-168343389	Hepatocyte	liver:	n/a
11	chr1:168343339-168343389	SK-N-SH_RA	brain:	n/a
12	chr1:168343339-168343389	Jurkat	blood:	n/a
13	chr1:168343339-168343389	PFSK-1	brain:	n/a
14	chr1:168343339-168343389	Hela-S3	cervix:	n/a
15	chr1:168343339-168343389	NHBE	bronchial:	n/a
16	chr1:168343339-168343389	HMEC	breast:	n/a
17	chr1:168343339-168343389	GM12878	blood:	n/a
18	chr1:168343339-168343389	ProgFib	skin:	n/a
19	chr1:168343339-168343389	K562	blood:	n/a
20	chr1:168343339-168343389	HUVEC	blood vessel:	n/a
21	chr1:168343339-168343389	NB4	blood:	n/a
22	chr1:168343339-168343389	AG10803	skin:	n/a
23	chr1:168343339-168343389	HRCEpiC	kidney:	n/a
24	chr1:168343339-168343389	HepG2	liver:	n/a
25	chr1:168343339-168343389	BJ	skin:	n/a
26	chr1:168343339-168343389	SAEC	small airway:	n/a
27	chr1:168343339-168343389	U87	brain:	n/a
28	chr1:168343339-168343389	T-47D	breast:	n/a
29	chr1:168343339-168343389	PrEC	prostate:	n/a
30	chr1:168343339-168343389	GM12892	blood:	n/a
31	chr1:168343339-168343389	AG04450	lung:	fetal
32	chr1:168343339-168343389	HNPCEpiC	eye:	n/a
33	chr1:168343339-168343389	CMK	blood:	n/a
34	chr1:168343339-168343389	HRE	kidney:	n/a
35	chr1:168343339-168343389	HPAEpiC	pulmonary alveolar:	n/a
36	chr1:168343339-168343389	HCF	heart:	n/a
37	chr1:168343339-168343389	HCM	heart:	n/a
38	chr1:168343339-168343389	HCPEpiC	choroid plexus:	n/a
39	chr1:168343339-168343389	AoSMC	blood vessel:	n/a
40	chr1:168343339-168343389	HL-60	blood:	n/a
41	chr1:168343339-168343389	Caco-2	colon:	n/a
42	chr1:168343339-168343389	GM06990	blood:	n/a
43	chr1:168343339-168343389	PANC-1	pancreas:	n/a
44	chr1:168343339-168343389	AG09309	skin:	n/a
45	chr1:168343339-168343389	HEK293	kidney:	embryo
46	chr1:168343339-168343389	ECC-1	luminal epithelium:	n/a
47	chr1:168343339-168343389	MCF10A-Er-Src	breast:	n/a
48	chr1:168343339-168343389	H1-hESC	embryonic stem cell:	embryo
49	chr1:168343339-168343389	SK-N-SH	brain:	n/a
50	chr1:168343339-168343389	SK-N-MC	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:168338940..168340901-chr1:168341151..168343365,2	MCF-7	breast:
2	chr1:168187433..168189118-chr1:168341371..168344286,2	K562	blood:
3	chr1:168341145..168343864-chr1:168357058..168358969,2	K562	blood:
4	chr1:168342866..168344756-chr1:168372914..168374516,2	K562	blood:

Variant related genes	Relation type
MIR557	TF binding region
MIR557	CpG island

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831825	chr1:168179175-168353062	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1002007	chr1:168179463-168375973	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
3	nsv872527	chr1:168327555-168375973	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1013200	chr1:168332730-168357759	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
5	nsv818556	chr1:168338069-168343349	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	esv3452560	chr1:168339759-168343856	Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv3452561	chr1:168339932-168343722	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	esv3452562	chr1:168339932-168343722	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv872528	chr1:168341866-168384168	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
10	nsv872529	chr1:168343349-168384168	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:168338200-168343400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:168338400-168348200	Weak transcription	HepG2	liver
3	chr1:168341800-168343400	Enhancers	Placenta Amnion	Placenta Amnion
4	chr1:168342000-168343400	Enhancers	Primary hematopoietic stem cells	blood
5	chr1:168342200-168343800	Weak transcription	Right Ventricle	heart
6	chr1:168342600-168343600	Weak transcription	Placenta	Placenta
7	chr1:168342600-168347400	Weak transcription	Right Atrium	heart
8	chr1:168342800-168345600	Enhancers	K562	blood
9	chr1:168343200-168343800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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