Variant report

Variant	rs114519076
Chromosome Location	chr1:222791000-222791001
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:221)
CpG islands
(count:61)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:221 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HEY1	chr1:222790920-222791213	K562	blood:	n/a	n/a
2	POLR2A	chr1:222790813-222791227	ECC-1	luminal epithelium:	n/a	n/a
3	MXI1	chr1:222790840-222791624	GM12878	blood:	n/a	chr1:222791038-222791053 chr1:222791036-222791051
4	RFX5	chr1:222790901-222791201	GM12878	blood:	n/a	chr1:222791037-222791052 chr1:222791036-222791053 chr1:222791035-222791049 chr1:222791037-222791052 chr1:222791034-222791049 chr1:222791037-222791052
5	ELK1	chr1:222790888-222791092	K562	blood:	n/a	n/a
6	POLR2A	chr1:222790926-222791658	K562	blood:	n/a	n/a
7	TEAD4	chr1:222790990-222791264	H1-hESC	embryonic stem cell:	n/a	n/a
8	USF1	chr1:222790758-222791219	SK-N-SH_RA	brain:	n/a	n/a
9	SMARCB1	chr1:222790794-222792564	Hela-S3	cervix:	n/a	n/a
10	MAX	chr1:222790750-222791293	H1-hESC	embryonic stem cell:	n/a	chr1:222791038-222791047
11	SIN3A	chr1:222790963-222791163	GM12878	blood:	n/a	n/a
12	NRF1	chr1:222790946-222791236	GM12878	blood:	n/a	chr1:222790947-222790956 chr1:222791171-222791180
13	POLR2A	chr1:222790732-222791674	HEK293	kidney:	n/a	n/a
14	POLR2A	chr1:222790969-222791241	HCT-116	colon:	n/a	n/a
15	ZC3H11A	chr1:222790988-222791124	K562	blood:	n/a	n/a
16	POLR2A	chr1:222790384-222791290	H1-hESC	embryonic stem cell:	n/a	n/a
17	USF2	chr1:222790918-222791118	HepG2	liver:	n/a	n/a
18	YY1	chr1:222790497-222791857	SK-N-SH	brain:	n/a	chr1:222791173-222791182 chr1:222790508-222790518
19	YY1	chr1:222790917-222791777	NT2-D1	testis:	n/a	chr1:222791173-222791182
20	CHD2	chr1:222790921-222791899	Hela-S3	cervix:	n/a	n/a
21	RUNX3	chr1:222790833-222791231	GM12878	blood:	n/a	chr1:222790874-222790889
22	MAFK	chr1:222790953-222791186	K562	blood:	n/a	n/a
23	MAX	chr1:222790771-222791250	K562	blood:	n/a	chr1:222791038-222791047
24	CTCF	chr1:222790992-222791059	GM19240	blood:	n/a	n/a
25	RCOR1	chr1:222790871-222791073	GM12878	blood:	n/a	n/a
26	POLR2A	chr1:222790932-222791241	HepG2	liver:	n/a	n/a
27	BACH1	chr1:222790484-222791170	H1-hESC	embryonic stem cell:	n/a	n/a
28	RCOR1	chr1:222790850-222791634	K562	blood:	n/a	n/a
29	HEY1	chr1:222790866-222791245	HepG2	liver:	n/a	n/a
30	POLR2A	chr1:222790693-222791704	GM18951	blood:	n/a	n/a
31	POLR2A	chr1:222790788-222791805	ProgFib	skin:	n/a	n/a
32	PBX3	chr1:222790910-222791223	GM12878	blood:	n/a	chr1:222791089-222791098
33	POLR2A	chr1:222790625-222791246	U87	brain:	n/a	n/a
34	POLR2A	chr1:222790821-222791716	HUVEC	blood vessel:	n/a	n/a
35	HEY1	chr1:222790973-222791193	HepG2	liver:	n/a	n/a
36	CREB1	chr1:222790611-222791274	A549	lung:	n/a	chr1:222791136-222791149
37	NFYB	chr1:222790927-222791209	Hela-S3	cervix:	n/a	chr1:222791015-222791030
38	POLR2A	chr1:222790711-222791715	GM19193	blood:	n/a	n/a
39	TBP	chr1:222790757-222791703	H1-hESC	embryonic stem cell:	n/a	n/a
40	TBL1XR1	chr1:222790814-222791179	GM12878	blood:	n/a	n/a
41	MAX	chr1:222790890-222791228	A549	lung:	n/a	chr1:222791038-222791047
42	POLR2A	chr1:222790759-222791172	H1-hESC	embryonic stem cell:	n/a	n/a
43	RCOR1	chr1:222790967-222791244	HepG2	liver:	n/a	n/a
44	TAF1	chr1:222790811-222791272	ECC-1	luminal epithelium:	n/a	n/a
45	USF1	chr1:222790778-222791273	ECC-1	luminal epithelium:	n/a	n/a
46	MAX	chr1:222790859-222792630	K562	blood:	n/a	chr1:222791038-222791047 chr1:222791868-222791878 chr1:222791405-222791415
47	POLR2A	chr1:222790758-222791642	GM12878	blood:	n/a	n/a
48	YY1	chr1:222790871-222791218	K562	blood:	n/a	chr1:222791173-222791182
49	POLR2A	chr1:222790842-222791252	A549	lung:	n/a	n/a
50	MYC	chr1:222790961-222792576	K562	blood:	n/a	chr1:222791038-222791047 chr1:222791868-222791878 chr1:222791405-222791415

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:222790952-222791002	HRPEpiC	eye:	n/a
2	chr1:222790952-222791002	HepG2	liver:	n/a
3	chr1:222790952-222791002	HIPEpiC	eye:	n/a
4	chr1:222790952-222791002	MCF10A-Er-Src	breast:	n/a
5	chr1:222790952-222791002	RPTEC	kidney:	n/a
6	chr1:222790952-222791002	ovcar-3	ovarian:	n/a
7	chr1:222790952-222791002	SKMC	muscle:	n/a
8	chr1:222790952-222791002	AoSMC	blood vessel:	n/a
9	chr1:222790952-222791002	NHDF-neo	bronchial:	n/a
10	chr1:222790952-222791002	HL-60	blood:	n/a
11	chr1:222790952-222791002	Jurkat	blood:	n/a
12	chr1:222790952-222791002	IMR90	lung:	fetal
13	chr1:222790952-222791002	AG04449	skin:	fetal
14	chr1:222790952-222791002	HEK293	kidney:	embryo
15	chr1:222790952-222791002	PANC-1	pancreas:	n/a
16	chr1:222790952-222791002	HCF	heart:	n/a
17	chr1:222790952-222791002	H1-hESC	embryonic stem cell:	embryo
18	chr1:222790952-222791002	NT2-D1	testis:	n/a
19	chr1:222790952-222791002	Hela-S3	cervix:	n/a
20	chr1:222790952-222791002	K562	blood:	n/a
21	chr1:222790952-222791002	CMK	blood:	n/a
22	chr1:222790952-222791002	PFSK-1	brain:	n/a
23	chr1:222790952-222791002	HUVEC	blood vessel:	n/a
24	chr1:222790952-222791002	AG09319	gingival:	n/a
25	chr1:222790952-222791002	HAEpiC	amniotic membrane:	n/a
26	chr1:222790952-222791002	HCPEpiC	choroid plexus:	n/a
27	chr1:222790952-222791002	A549	lung:	n/a
28	chr1:222790952-222791002	HNPCEpiC	eye:	n/a
29	chr1:222790952-222791002	GM12878	blood:	n/a
30	chr1:222790952-222791002	GM06990	blood:	n/a
31	chr1:222790952-222791002	AG04450	lung:	fetal
32	chr1:222790952-222791002	AG10803	skin:	n/a
33	chr1:222790952-222791002	MCF-7	breast:	n/a
34	chr1:222790952-222791002	BJ	skin:	n/a
35	chr1:222790952-222791002	ProgFib	skin:	n/a
36	chr1:222790952-222791002	NB4	blood:	n/a
37	chr1:222790952-222791002	HCT-116	colon:	n/a
38	chr1:222790952-222791002	SAEC	small airway:	n/a
39	chr1:222790952-222791002	HCM	heart:	n/a
40	chr1:222790952-222791002	NH-A	brain:	n/a
41	chr1:222790952-222791002	GM12891	blood:	n/a
42	chr1:222790952-222791002	BE2_C	brain:	n/a
43	chr1:222790952-222791002	U87	brain:	n/a
44	chr1:222790952-222791002	HPAEpiC	pulmonary alveolar:	n/a
45	chr1:222790952-222791002	GM19239	blood:	n/a
46	chr1:222790952-222791002	ECC-1	luminal epithelium:	n/a
47	chr1:222790952-222791002	AG09309	skin:	n/a
48	chr1:222790952-222791002	PrEC	prostate:	n/a
49	chr1:222790952-222791002	SK-N-SH_RA	brain:	n/a
50	chr1:222790952-222791002	SK-N-SH	brain:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr1:222760074..222764679-chr1:222790714..222794830,7	K562	blood:
2	chr1:222761567..222764879-chr1:222790132..222793494,4	MCF-7	breast:
3	chr1:222790149..222792584-chr1:222885363..222887404,2	K562	blood:
4	chr1:222788058..222793799-chr1:222815102..222819462,10	K562	blood:
5	chr1:222790877..222794262-chr1:222817668..222820285,3	MCF-7	breast:
6	chr1:222789930..222793106-chr1:222884660..222888170,6	K562	blood:
7	chr1:222788934..222792471-chr1:222815936..222819007,5	MCF-7	breast:
8	chr1:222761959..222766700-chr1:222790061..222794365,7	MCF-7	breast:
9	chr1:222760723..222765796-chr1:222790714..222795393,9	K562	blood:
10	chr1:222789107..222793717-chr1:222814287..222819011,10	K562	blood:

No data

Variant related genes	Relation type
MIA3	TF binding region
MIA3	CpG island
ENSG00000225265	Chromatin interaction
ENSG00000143498	Chromatin interaction
ENSG00000154305	Chromatin interaction
ENSG00000229399	Chromatin interaction
ENSG00000186063	Chromatin interaction
ENSG00000162819	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999185	chr1:222500725-223278032	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv535304	chr1:222500725-223278032	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv873205	chr1:222718718-222923351	Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
5	esv3325041	chr1:222790354-222793202	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:185 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222790200-222791000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:222790200-222791000	Flanking Active TSS	NHDF-Ad	bronchial
3	chr1:222790200-222791200	Flanking Active TSS	Liver	Liver
4	chr1:222790400-222791000	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
5	chr1:222790400-222791000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
6	chr1:222790400-222791000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
7	chr1:222790400-222791000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
8	chr1:222790400-222791000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr1:222790400-222791000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr1:222790400-222791000	Flanking Active TSS	Brain Hippocampus Middle	brain
11	chr1:222790400-222791000	Flanking Active TSS	Osteobl	bone
12	chr1:222790400-222791200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr1:222790400-222791200	Flanking Active TSS	Adipose Nuclei	Adipose
14	chr1:222790400-222791200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
15	chr1:222790400-222791200	Flanking Active TSS	Dnd41	blood
16	chr1:222790400-222791200	Flanking Active TSS	NH-A	brain
17	chr1:222790400-222791600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr1:222790400-222792200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr1:222790400-222792200	Active TSS	Rectal Mucosa Donor 29	rectum
20	chr1:222790400-222792400	Active TSS	Stomach Smooth Muscle	stomach
21	chr1:222790400-222792600	Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr1:222790400-222792600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr1:222790400-222792600	Active TSS	Brain Inferior Temporal Lobe	brain
24	chr1:222790400-222792800	Active TSS	H1 Cell Line	embryonic stem cell
25	chr1:222790400-222792800	Active TSS	Ovary	ovary
26	chr1:222790400-222793000	Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr1:222790600-222791000	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr1:222790600-222791000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr1:222790600-222791000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr1:222790600-222791000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr1:222790600-222791000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr1:222790600-222791000	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr1:222790600-222791000	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
34	chr1:222790600-222791000	Flanking Active TSS	Primary B cells from cord blood	blood
35	chr1:222790600-222791000	Flanking Active TSS	Primary B cells from peripheral blood	blood
36	chr1:222790600-222791000	Flanking Active TSS	Primary hematopoietic stem cells	blood
37	chr1:222790600-222791000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
38	chr1:222790600-222791000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
39	chr1:222790600-222791000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
40	chr1:222790600-222791000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
41	chr1:222790600-222791000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
42	chr1:222790600-222791000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
43	chr1:222790600-222791000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr1:222790600-222791000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
45	chr1:222790600-222791000	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
46	chr1:222790600-222791000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr1:222790600-222791000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr1:222790600-222791000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr1:222790600-222791000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
50	chr1:222790600-222791000	Flanking Active TSS	Colonic Mucosa	Colon

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