Variant report

Variant	rs77566879
Chromosome Location	chr1:223899736-223899737
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:75)
CpG islands
(count:61)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:75 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr1:223899618-223900465	HCT-116	colon:	n/a	chr1:223900071-223900084 chr1:223900073-223900085 chr1:223900278-223900291
2	TCF12	chr1:223899452-223900449	A549	lung:	n/a	chr1:223899873-223899883
3	ZNF143	chr1:223899595-223900405	K562	blood:	n/a	chr1:223900038-223900048 chr1:223900230-223900240 chr1:223900039-223900049
4	JUND	chr1:223899525-223900640	SK-N-SH	brain:	n/a	chr1:223900208-223900219
5	POLR2A	chr1:223899527-223902278	U87	brain:	n/a	n/a
6	POLR2A	chr1:223899728-223901800	Hela-S3	cervix:	n/a	n/a
7	RCOR1	chr1:223899560-223901728	K562	blood:	n/a	n/a
8	RAD21	chr1:223899365-223901256	SK-N-SH	brain:	n/a	chr1:223900071-223900084 chr1:223900073-223900085 chr1:223900278-223900291
9	WRNIP1	chr1:223899710-223899969	GM12878	blood:	n/a	n/a
10	POLR2A	chr1:223899498-223900520	PANC-1	pancreas:	n/a	n/a
11	KAP1	chr1:223899586-223900520	HEK293	kidney:	n/a	n/a
12	REST	chr1:223899637-223900270	A549	lung:	n/a	chr1:223900161-223900171 chr1:223900059-223900069 chr1:223900063-223900072
13	POLR2A	chr1:223899689-223900971	HEK293	kidney:	n/a	n/a
14	TBL1XR1	chr1:223899570-223900324	K562	blood:	n/a	n/a
15	CBX3	chr1:223899367-223900587	K562	blood:	n/a	n/a
16	POLR2A	chr1:223898708-223906948	U87	brain:	n/a	n/a
17	POLR2A	chr1:223899575-223902247	HCT-116	colon:	n/a	n/a
18	JUND	chr1:223899720-223900579	K562	blood:	n/a	chr1:223900208-223900219
19	MYC	chr1:223899666-223901153	K562	blood:	n/a	n/a
20	MAX	chr1:223899420-223902296	A549	lung:	n/a	n/a
21	PML	chr1:223899719-223900519	K562	blood:	n/a	n/a
22	SP1	chr1:223899540-223900276	A549	lung:	n/a	n/a
23	MYC	chr1:223899638-223901936	K562	blood:	n/a	n/a
24	UBTF	chr1:223899715-223902057	K562	blood:	n/a	n/a
25	POLR2A	chr1:223899527-223905162	U87	brain:	n/a	n/a
26	MAX	chr1:223899539-223902027	A549	lung:	n/a	n/a
27	STAT5A	chr1:223899578-223900487	K562	blood:	n/a	n/a
28	CEBPB	chr1:223899733-223900344	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr1:223898702-223906954	U87	brain:	n/a	n/a
30	KAP1	chr1:223899523-223899945	K562	blood:	n/a	n/a
31	SMC3	chr1:223899451-223901103	SK-N-SH	brain:	n/a	n/a
32	CTCF	chr1:223899437-223902098	A549	lung:	n/a	n/a
33	TEAD4	chr1:223899538-223900425	K562	blood:	n/a	n/a
34	MAZ	chr1:223899497-223901003	IMR90	lung:	n/a	n/a
35	MXI1	chr1:223899532-223902274	IMR90	lung:	n/a	n/a
36	ELK1	chr1:223899729-223900440	K562	blood:	n/a	n/a
37	CHD2	chr1:223899702-223900585	K562	blood:	n/a	n/a
38	TBL1XR1	chr1:223899715-223900478	K562	blood:	n/a	n/a
39	RAD21	chr1:223899727-223900501	IMR90	lung:	n/a	chr1:223900071-223900084 chr1:223900073-223900085 chr1:223900278-223900291
40	ATF3	chr1:223899542-223900397	K562	blood:	n/a	chr1:223900268-223900277
41	MAZ	chr1:223899699-223901965	K562	blood:	n/a	n/a
42	CTCF	chr1:223899443-223901176	SK-N-SH	brain:	n/a	n/a
43	MAZ	chr1:223899671-223901518	Hela-S3	cervix:	n/a	n/a
44	TBP	chr1:223899683-223901686	K562	blood:	n/a	n/a
45	ZNF263	chr1:223899635-223903717	HEK293-T-REx	kidney:	n/a	chr1:223902813-223902822 chr1:223901327-223901336
46	POLR2A	chr1:223899536-223901747	GM12892	blood:	n/a	n/a
47	POLR2A	chr1:223899599-223900592	PANC-1	pancreas:	n/a	n/a
48	HDAC2	chr1:223899592-223900221	K562	blood:	n/a	n/a
49	POLR2A	chr1:223899595-223903631	MCF10A-Er-Src	breast:	n/a	n/a
50	EP300	chr1:223899645-223900334	K562	blood:	n/a	chr1:223900231-223900240 chr1:223900228-223900237 chr1:223900245-223900261

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:223899736-223899786	PANC-1	pancreas:	n/a
2	chr1:223899736-223899786	T-47D	breast:	n/a
3	chr1:223899736-223899786	NHBE	bronchial:	n/a
4	chr1:223899736-223899786	K562	blood:	n/a
5	chr1:223899736-223899786	HRE	kidney:	n/a
6	chr1:223899736-223899786	HMEC	breast:	n/a
7	chr1:223899736-223899786	HEEpiC	esophagus:	n/a
8	chr1:223899736-223899786	HRPEpiC	eye:	n/a
9	chr1:223899736-223899786	HCF	heart:	n/a
10	chr1:223899736-223899786	AG09319	gingival:	n/a
11	chr1:223899736-223899786	PFSK-1	brain:	n/a
12	chr1:223899736-223899786	GM12878	blood:	n/a
13	chr1:223899736-223899786	AoSMC	blood vessel:	n/a
14	chr1:223899736-223899786	AG04449	skin:	fetal
15	chr1:223899736-223899786	HEK293	kidney:	embryo
16	chr1:223899736-223899786	HAEpiC	amniotic membrane:	n/a
17	chr1:223899736-223899786	Jurkat	blood:	n/a
18	chr1:223899736-223899786	U87	brain:	n/a
19	chr1:223899736-223899786	SK-N-SH	brain:	n/a
20	chr1:223899736-223899786	ovcar-3	ovarian:	n/a
21	chr1:223899736-223899786	HCM	heart:	n/a
22	chr1:223899736-223899786	HIPEpiC	eye:	n/a
23	chr1:223899736-223899786	Hela-S3	cervix:	n/a
24	chr1:223899736-223899786	AG10803	skin:	n/a
25	chr1:223899736-223899786	A549	lung:	n/a
26	chr1:223899736-223899786	RPTEC	kidney:	n/a
27	chr1:223899736-223899786	SAEC	small airway:	n/a
28	chr1:223899736-223899786	HCT-116	colon:	n/a
29	chr1:223899736-223899786	ECC-1	luminal epithelium:	n/a
30	chr1:223899736-223899786	H1-hESC	embryonic stem cell:	embryo
31	chr1:223899736-223899786	NB4	blood:	n/a
32	chr1:223899736-223899786	AG04450	lung:	fetal
33	chr1:223899736-223899786	HNPCEpiC	eye:	n/a
34	chr1:223899736-223899786	Caco-2	colon:	n/a
35	chr1:223899736-223899786	HUVEC	blood vessel:	n/a
36	chr1:223899736-223899786	Hepatocyte	liver:	n/a
37	chr1:223899736-223899786	HPAEpiC	pulmonary alveolar:	n/a
38	chr1:223899736-223899786	SKMC	muscle:	n/a
39	chr1:223899736-223899786	LNCaP	prostate:	n/a
40	chr1:223899736-223899786	GM12891	blood:	n/a
41	chr1:223899736-223899786	PrEC	prostate:	n/a
42	chr1:223899736-223899786	ProgFib	skin:	n/a
43	chr1:223899736-223899786	BJ	skin:	n/a
44	chr1:223899736-223899786	MCF10A-Er-Src	breast:	n/a
45	chr1:223899736-223899786	MCF-7	breast:	n/a
46	chr1:223899736-223899786	NHDF-neo	bronchial:	n/a
47	chr1:223899736-223899786	CMK	blood:	n/a
48	chr1:223899736-223899786	AG09309	skin:	n/a
49	chr1:223899736-223899786	SK-N-SH_RA	brain:	n/a
50	chr1:223899736-223899786	SK-N-MC	brain:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr1:223886668..223890344-chr1:223897746..223900327,3	K562	blood:
2	chr1:223899719..223901460-chr1:224517221..224519970,2	K562	blood:
3	chr1:223898558..223902080-chr1:223957242..223958839,3	K562	blood:
4	chr1:223882393..223884567-chr1:223898139..223900023,2	MCF-7	breast:
5	chr1:223897551..223903480-chr1:224031634..224036730,7	K562	blood:
6	chr1:223885961..223896993-chr1:223898177..223910405,32	MCF-7	breast:
7	chr1:223899719..223902673-chr1:224516675..224518721,2	K562	blood:
8	chr1:223898558..223902031-chr1:223957339..223960421,3	K562	blood:
9	chr1:223897059..223902247-chr1:223935403..223939761,6	K562	blood:

No data

Variant related genes	Relation type
CAPN2	TF binding region
CAPN2	CpG island
ENSG00000143748	Chromatin interaction
ENSG00000143514	Chromatin interaction
ENSG00000162909	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832681	chr1:223698048-224002691	Strong transcription Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	esv3361888	chr1:223725597-224114846	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1007380	chr1:223834380-224042190	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv535310	chr1:223834380-224042190	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	esv34082	chr1:223851018-224144509	Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv873213	chr1:223885843-223924236	Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
7	esv3344542	chr1:223899354-223901902	Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223889000-223900000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:223892200-223899800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:223894000-223899800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr1:223894000-223899800	Enhancers	Fetal Intestine Large	intestine
5	chr1:223895600-223899800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr1:223896000-223899800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr1:223896000-223899800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr1:223896000-223899800	Weak transcription	Left Ventricle	heart
9	chr1:223896000-223899800	Weak transcription	Psoas Muscle	Psoas
10	chr1:223896000-223900000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr1:223896000-223900200	Weak transcription	Small Intestine	intestine
12	chr1:223896800-223899800	Weak transcription	Placenta	Placenta
13	chr1:223897200-223900000	Weak transcription	Lung	lung
14	chr1:223897600-223899800	Enhancers	Fetal Intestine Small	intestine
15	chr1:223897600-223899800	Enhancers	Fetal Lung	lung
16	chr1:223897600-223900200	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr1:223898400-223899800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr1:223898600-223899800	Enhancers	Primary B cells from peripheral blood	blood
19	chr1:223898600-223899800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr1:223898600-223899800	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr1:223898600-223899800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr1:223898600-223899800	Enhancers	Fetal Heart	heart
23	chr1:223898600-223899800	Enhancers	Fetal Muscle Leg	muscle
24	chr1:223898800-223899800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr1:223898800-223899800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr1:223898800-223899800	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr1:223898800-223899800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr1:223898800-223899800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr1:223898800-223899800	Enhancers	Fetal Stomach	stomach
30	chr1:223898800-223899800	Enhancers	NH-A	brain
31	chr1:223899000-223899800	Enhancers	Brain Substantia Nigra	brain
32	chr1:223899000-223899800	Enhancers	HUVEC	blood vessel
33	chr1:223899200-223899800	Enhancers	Fetal Muscle Trunk	muscle
34	chr1:223899400-223899800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
35	chr1:223899400-223899800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr1:223899400-223899800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
37	chr1:223899400-223899800	Enhancers	Esophagus	oesophagus
38	chr1:223899400-223899800	Enhancers	Pancreas	Pancrea
39	chr1:223899400-223900000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
40	chr1:223899400-223900000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
41	chr1:223899400-223900000	Flanking Active TSS	Hela-S3	cervix
42	chr1:223899400-223901400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
43	chr1:223899600-223899800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
44	chr1:223899600-223899800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr1:223899600-223899800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr1:223899600-223899800	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr1:223899600-223899800	Bivalent/Poised TSS	Primary T cells from cord blood	blood
48	chr1:223899600-223899800	Enhancers	Primary hematopoietic stem cells	blood
49	chr1:223899600-223899800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
50	chr1:223899600-223899800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood

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