Variant report

Variant	rs548558798
Chromosome Location	chr3:48957014-48957015
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:131)
CpG islands
(count:61)
Chromatin interactive
region (count:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:131 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:48957004-48957524	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr3:48955622-48957513	K562	blood:	n/a	n/a
3	CHD1	chr3:48955533-48957765	IMR90	lung:	n/a	n/a
4	UBTF	chr3:48955649-48957078	K562	blood:	n/a	n/a
5	POLR2A	chr3:48956891-48957429	GM12891	blood:	n/a	n/a
6	CTCF	chr3:48956980-48957130	AG10803	skin:	n/a	n/a
7	IRF1	chr3:48957003-48957457	K562	blood:	n/a	n/a
8	MYC	chr3:48956982-48957093	K562	blood:	n/a	n/a
9	HCFC1	chr3:48955446-48957694	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr3:48955591-48957632	HUVEC	blood vessel:	n/a	n/a
11	POLR2A	chr3:48955395-48957740	GM12878	blood:	n/a	n/a
12	MXI1	chr3:48955627-48957576	HepG2	liver:	n/a	n/a
13	SIN3AK20	chr3:48955824-48957037	PANC-1	pancreas:	n/a	n/a
14	MAX	chr3:48955523-48957237	SK-N-SH	brain:	n/a	n/a
15	BCLAF1	chr3:48955541-48957098	GM12878	blood:	n/a	chr3:48956860-48956873 chr3:48956720-48956729
16	GATA1	chr3:48955593-48957469	PBDE	blood:	n/a	n/a
17	MAX	chr3:48955611-48957523	GM12878	blood:	n/a	chr3:48957381-48957391
18	MAX	chr3:48956246-48957446	A549	lung:	n/a	chr3:48957381-48957391
19	SIN3AK20	chr3:48956827-48957122	H1-hESC	embryonic stem cell:	n/a	n/a
20	USF1	chr3:48956763-48957655	HCT-116	colon:	n/a	chr3:48957380-48957391
21	POLR2A	chr3:48955558-48957494	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr3:48955479-48957684	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr3:48955738-48957113	PFSK-1	brain:	n/a	n/a
24	YY1	chr3:48956711-48957107	GM12878	blood:	n/a	chr3:48956861-48956875
25	PML	chr3:48955461-48957615	GM12878	blood:	n/a	n/a
26	POLR2A	chr3:48956652-48957585	GM12892	blood:	n/a	n/a
27	POLR2A	chr3:48956983-48957615	GM12892	blood:	n/a	n/a
28	MYC	chr3:48956994-48957018	Hela-S3	cervix:	n/a	n/a
29	MAX	chr3:48955575-48957609	K562	blood:	n/a	chr3:48957381-48957391
30	MAX	chr3:48955477-48957761	HepG2	liver:	n/a	chr3:48957381-48957391
31	ATF2	chr3:48956958-48957507	GM12878	blood:	n/a	n/a
32	SMC3	chr3:48956605-48957505	Hela-S3	cervix:	n/a	n/a
33	MXI1	chr3:48955445-48957924	SK-N-SH	brain:	n/a	n/a
34	MAZ	chr3:48955615-48957138	IMR90	lung:	n/a	n/a
35	POLR2A	chr3:48956812-48957574	GM12891	blood:	n/a	n/a
36	USF1	chr3:48956915-48957106	SK-N-SH_RA	brain:	n/a	n/a
37	CHD1	chr3:48956816-48957387	H1-hESC	embryonic stem cell:	n/a	n/a
38	STAT5A	chr3:48955413-48957404	GM12878	blood:	n/a	n/a
39	POLR2A	chr3:48955567-48957079	Hela-S3	cervix:	n/a	n/a
40	MXI1	chr3:48955641-48957668	Hela-S3	cervix:	n/a	n/a
41	REST	chr3:48955538-48957476	HL-60	blood:	n/a	n/a
42	MAX	chr3:48955710-48957616	A549	lung:	n/a	chr3:48957381-48957391
43	MYC	chr3:48955638-48957505	K562	blood:	n/a	chr3:48957381-48957391
44	RUNX3	chr3:48956863-48957590	GM12878	blood:	n/a	n/a
45	POLR2A	chr3:48955567-48957062	GM12878	blood:	n/a	n/a
46	E2F6	chr3:48955635-48957031	K562	blood:	n/a	chr3:48956839-48956854 chr3:48956684-48956694 chr3:48956628-48956640
47	POLR2A	chr3:48955607-48957068	K562	blood:	n/a	n/a
48	MAFK	chr3:48956952-48957254	HepG2	liver:	n/a	chr3:48957204-48957218 chr3:48957206-48957217 chr3:48957206-48957217 chr3:48957205-48957220 chr3:48957205-48957221 chr3:48957205-48957216 chr3:48957205-48957216
49	MAX	chr3:48956807-48957567	MCF-7	breast:	n/a	chr3:48957381-48957391
50	POLR2A	chr3:48955444-48957690	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:48957001-48957051	GM12892	blood:	n/a
2	chr3:48957001-48957051	HRE	kidney:	n/a
3	chr3:48957001-48957051	HCF	heart:	n/a
4	chr3:48957001-48957051	HEK293	kidney:	embryo
5	chr3:48957001-48957051	GM12878	blood:	n/a
6	chr3:48957001-48957051	SK-N-SH_RA	brain:	n/a
7	chr3:48957001-48957051	AoSMC	blood vessel:	n/a
8	chr3:48957001-48957051	GM06990	blood:	n/a
9	chr3:48957001-48957051	HL-60	blood:	n/a
10	chr3:48957001-48957051	HCPEpiC	choroid plexus:	n/a
11	chr3:48957001-48957051	ECC-1	luminal epithelium:	n/a
12	chr3:48957001-48957051	HCT-116	colon:	n/a
13	chr3:48957001-48957051	AG09319	gingival:	n/a
14	chr3:48957001-48957051	H1-hESC	embryonic stem cell:	embryo
15	chr3:48957001-48957051	Jurkat	blood:	n/a
16	chr3:48957001-48957051	RPTEC	kidney:	n/a
17	chr3:48957001-48957051	SAEC	small airway:	n/a
18	chr3:48957001-48957051	IMR90	lung:	fetal
19	chr3:48957001-48957051	HUVEC	blood vessel:	n/a
20	chr3:48957001-48957051	MCF10A-Er-Src	breast:	n/a
21	chr3:48957001-48957051	HIPEpiC	eye:	n/a
22	chr3:48957001-48957051	HPAEpiC	pulmonary alveolar:	n/a
23	chr3:48957001-48957051	CMK	blood:	n/a
24	chr3:48957001-48957051	BE2_C	brain:	n/a
25	chr3:48957001-48957051	PFSK-1	brain:	n/a
26	chr3:48957001-48957051	HRPEpiC	eye:	n/a
27	chr3:48957001-48957051	LNCaP	prostate:	n/a
28	chr3:48957001-48957051	HCM	heart:	n/a
29	chr3:48957001-48957051	T-47D	breast:	n/a
30	chr3:48957001-48957051	BJ	skin:	n/a
31	chr3:48957001-48957051	GM19239	blood:	n/a
32	chr3:48957001-48957051	SK-N-SH	brain:	n/a
33	chr3:48957001-48957051	ovcar-3	ovarian:	n/a
34	chr3:48957001-48957051	NHBE	bronchial:	n/a
35	chr3:48957001-48957051	HRCEpiC	kidney:	n/a
36	chr3:48957001-48957051	HAEpiC	amniotic membrane:	n/a
37	chr3:48957001-48957051	Hela-S3	cervix:	n/a
38	chr3:48957001-48957051	U87	brain:	n/a
39	chr3:48957001-48957051	Caco-2	colon:	n/a
40	chr3:48957001-48957051	AG10803	skin:	n/a
41	chr3:48957001-48957051	A549	lung:	n/a
42	chr3:48957001-48957051	SKMC	muscle:	n/a
43	chr3:48957001-48957051	NT2-D1	testis:	n/a
44	chr3:48957001-48957051	ProgFib	skin:	n/a
45	chr3:48957001-48957051	AG04449	skin:	fetal
46	chr3:48957001-48957051	HEEpiC	esophagus:	n/a
47	chr3:48957001-48957051	GM12891	blood:	n/a
48	chr3:48957001-48957051	HNPCEpiC	eye:	n/a
49	chr3:48957001-48957051	Hepatocyte	liver:	n/a
50	chr3:48957001-48957051	SK-N-MC	brain:	n/a

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:48955974..48957797-chr3:49448912..49450941,2	K562	blood:
2	chr3:48956178..48958930-chr3:48964681..48967359,2	MCF-7	breast:
3	chr3:48722838..48724823-chr3:48955919..48958463,2	K562	blood:
4	chr3:48753119..48755656-chr3:48955067..48957607,2	MCF-7	breast:
5	chr3:48955220..48957658-chr3:48960315..48963071,3	MCF-7	breast:
6	chr3:48954426..48959569-chr3:49057203..49060067,5	K562	blood:
7	chr3:48700103..48702620-chr3:48955233..48957367,3	K562	blood:
8	chr3:48700863..48702620-chr3:48955867..48958209,2	K562	blood:
9	chr3:48954616..48957728-chr3:49043769..49045935,3	K562	blood:
10	chr3:48956190..48958160-chr3:48963848..48966266,2	MCF-7	breast:
11	chr10:1034212..1034872-chr3:48956219..48957108,3	Hela-S3	cervix:
12	chr3:48934472..48936493-chr3:48955282..48957052,2	MCF-7	breast:
13	chr3:48777544..48781186-chr3:48954650..48958375,5	K562	blood:
14	chr3:48955694..48958185-chr3:49021057..49023573,2	K562	blood:
15	chr3:48882526..48886164-chr3:48952991..48958735,8	K562	blood:
16	chr3:48882526..48887589-chr3:48952932..48958567,11	K562	blood:
17	chr19:36544745..36545679-chr3:48956268..48957255,2	Hela-S3	cervix:
18	chr3:48956092..48958804-chr3:49057398..49059224,2	K562	blood:
19	chr3:48777662..48781214-chr3:48954479..48957215,3	K562	blood:
20	chr3:48933374..48937590-chr3:48954193..48958596,7	K562	blood:

No data

Variant related genes	Relation type
ARIH2	TF binding region
ARIH2OS	TF binding region
ARIH2	CpG island
ARIH2OS	CpG island
ENSG00000177479	Chromatin interaction
ENSG00000178252	Chromatin interaction
ENSG00000107937	Chromatin interaction
ENSG00000145022	Chromatin interaction
ENSG00000273211	Chromatin interaction
ENSG00000178537	Chromatin interaction
ENSG00000235236	Chromatin interaction
ENSG00000199032	Chromatin interaction
ENSG00000178057	Chromatin interaction
ENSG00000068745	Chromatin interaction
ENSG00000207605	Chromatin interaction
ENSG00000224424	Chromatin interaction
ENSG00000205740	Chromatin interaction
ENSG00000213672	Chromatin interaction
ENSG00000067560	Chromatin interaction
ENSG00000161277	Chromatin interaction
ENSG00000008300	Chromatin interaction
ENSG00000178149	Chromatin interaction
ENSG00000228350	Chromatin interaction
ENSG00000114302	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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	esv3487342	chr3:48823957-48960475	Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	esv3487343	chr3:48823963-48960381	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
3	nsv980012	chr3:48935037-48963512	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
4	esv3394753	chr3:48956248-48960046	Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	esv3340246	chr3:48956448-48960646	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
6	esv3461083	chr3:48956973-48960121	Weak transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:48954800-48957200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:48954800-48957200	Active TSS	Rectal Smooth Muscle	rectum
3	chr3:48954800-48957800	Active TSS	iPS-18 Cell Line	embryonic stem cell
4	chr3:48955000-48957600	Active TSS	Fetal Brain Female	brain
5	chr3:48955000-48957600	Active TSS	HSMM	muscle
6	chr3:48955200-48957200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr3:48955200-48957200	Active TSS	Brain Cingulate Gyrus	brain
8	chr3:48955200-48957600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr3:48955200-48957600	Active TSS	Fetal Intestine Small	intestine
10	chr3:48955200-48957600	Active TSS	Hela-S3	cervix
11	chr3:48955200-48957800	Active TSS	Colonic Mucosa	Colon
12	chr3:48955200-48957800	Active TSS	Rectal Mucosa Donor 29	rectum
13	chr3:48955200-48957800	Active TSS	Rectal Mucosa Donor 31	rectum
14	chr3:48955200-48958200	Active TSS	GM12878-XiMat	blood
15	chr3:48955200-48958200	Active TSS	K562	blood
16	chr3:48955400-48957200	Active TSS	H1 Cell Line	embryonic stem cell
17	chr3:48955400-48957200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr3:48955400-48957200	Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr3:48955400-48957200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr3:48955400-48957200	Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr3:48955400-48957200	Active TSS	Brain Angular Gyrus	brain
22	chr3:48955400-48957200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr3:48955400-48957200	Active TSS	Brain Substantia Nigra	brain
24	chr3:48955400-48957200	Active TSS	Fetal Kidney	kidney
25	chr3:48955400-48957200	Active TSS	Fetal Stomach	stomach
26	chr3:48955400-48957200	Active TSS	Thymus	Thymus
27	chr3:48955400-48957400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr3:48955400-48957400	Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr3:48955400-48957400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
30	chr3:48955400-48957400	Active TSS	Colon Smooth Muscle	Colon
31	chr3:48955400-48957400	Active TSS	Esophagus	oesophagus
32	chr3:48955400-48957400	Active TSS	Left Ventricle	heart
33	chr3:48955400-48957600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr3:48955400-48957600	Active TSS	Pancreas	Pancrea
35	chr3:48955400-48957600	Active TSS	HSMMtube	muscle
36	chr3:48955400-48957800	Active TSS	ES-I3 Cell Line	embryonic stem cell
37	chr3:48955400-48957800	Active TSS	H9 Cell Line	embryonic stem cell
38	chr3:48955400-48957800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr3:48955400-48957800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr3:48955400-48957800	Active TSS	HUES48 Cell Line	embryonic stem cell
41	chr3:48955400-48957800	Active TSS	HUES64 Cell Line	embryonic stem cell
42	chr3:48955400-48957800	Active TSS	iPS-20b Cell Line	embryonic stem cell
43	chr3:48955400-48957800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr3:48955400-48957800	Active TSS	Pancreatic Islets	Pancreatic Islet
45	chr3:48955400-48957800	Active TSS	Psoas Muscle	Psoas
46	chr3:48955400-48957800	Active TSS	Right Atrium	heart
47	chr3:48955400-48957800	Active TSS	Right Ventricle	heart
48	chr3:48955400-48957800	Active TSS	NHDF-Ad	bronchial
49	chr3:48955400-48957800	Active TSS	NHLF	lung
50	chr3:48955400-48958000	Active TSS	A549	lung

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