Variant report

Variant	rs569319456
Chromosome Location	chr2:171572889-171572890
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:36)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:36 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:171571679-171574265	HepG2	liver:	n/a	n/a
2	HNF4A	chr2:171570620-171573709	HepG2	liver:	n/a	chr2:171572142-171572160 chr2:171572143-171572158
3	EGR1	chr2:171572761-171573676	H1-hESC	embryonic stem cell:	n/a	n/a
4	CEBPD	chr2:171570697-171573739	HepG2	liver:	n/a	n/a
5	MAX	chr2:171567494-171574371	HepG2	liver:	n/a	chr2:171572484-171572494 chr2:171572090-171572100 chr2:171568528-171568538
6	MXI1	chr2:171570562-171574086	HepG2	liver:	n/a	n/a
7	POLR2A	chr2:171571720-171573222	HepG2	liver:	n/a	n/a
8	MAX	chr2:171567137-171574353	HepG2	liver:	n/a	chr2:171572484-171572494 chr2:171572090-171572100 chr2:171568528-171568538
9	POLR2A	chr2:171571577-171574339	HepG2	liver:	n/a	n/a
10	E2F6	chr2:171572637-171574298	H1-hESC	embryonic stem cell:	n/a	n/a
11	CCNT2	chr2:171572786-171572907	K562	blood:	n/a	n/a
12	TAF1	chr2:171571636-171574190	HepG2	liver:	n/a	n/a
13	MAX	chr2:171572870-171574256	H1-hESC	embryonic stem cell:	n/a	n/a
14	YY1	chr2:171571681-171574134	HepG2	liver:	n/a	chr2:171571931-171571945 chr2:171574026-171574038 chr2:171571977-171571986
15	HEY1	chr2:171566552-171576261	HepG2	liver:	n/a	chr2:171568717-171568732 chr2:171568723-171568738 chr2:171568409-171568424 chr2:171571862-171571877
16	TAF1	chr2:171571706-171573224	HepG2	liver:	n/a	n/a
17	TBP	chr2:171570730-171572906	HepG2	liver:	n/a	n/a
18	HEY1	chr2:171566435-171575595	HepG2	liver:	n/a	chr2:171568717-171568732 chr2:171568723-171568738 chr2:171568409-171568424 chr2:171571862-171571877
19	E2F6	chr2:171572880-171574187	H1-hESC	embryonic stem cell:	n/a	n/a
20	EGR1	chr2:171572791-171573323	K562	blood:	n/a	n/a
21	POLR2A	chr2:171566818-171576833	HepG2	liver:	n/a	n/a
22	POLR2A	chr2:171571636-171576275	HepG2	liver:	n/a	n/a
23	CREB1	chr2:171567131-171573329	HepG2	liver:	n/a	n/a
24	POLR2A	chr2:171567743-171574223	HepG2	liver:	n/a	n/a
25	CBX3	chr2:171572677-171573000	K562	blood:	n/a	n/a
26	MAZ	chr2:171570965-171573691	HepG2	liver:	n/a	chr2:171572484-171572494 chr2:171572090-171572100
27	BHLHE40	chr2:171570903-171573031	HepG2	liver:	n/a	n/a
28	SUZ12	chr2:171568999-171573118	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr2:171566701-171575246	HepG2	liver:	n/a	n/a
30	POLR2A	chr2:171571166-171577125	HepG2	liver:	n/a	n/a
31	HDAC2	chr2:171570718-171572986	HepG2	liver:	n/a	n/a
32	MAX	chr2:171572847-171574289	H1-hESC	embryonic stem cell:	n/a	n/a
33	MYBL2	chr2:171570711-171573136	HepG2	liver:	n/a	n/a
34	NFIC	chr2:171570649-171573080	HepG2	liver:	n/a	n/a
35	POLR2A	chr2:171571417-171572930	HepG2	liver:	n/a	n/a
36	CTCF	chr2:171572860-171573010	GM12869	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:171572863-171572913	AG04450	lung:	fetal
2	chr2:171572863-171572913	HUVEC	blood vessel:	n/a
3	chr2:171572863-171572913	BJ	skin:	n/a
4	chr2:171572863-171572913	SK-N-SH_RA	brain:	n/a
5	chr2:171572863-171572913	SK-N-SH	brain:	n/a
6	chr2:171572863-171572913	HRCEpiC	kidney:	n/a
7	chr2:171572863-171572913	Hela-S3	cervix:	n/a
8	chr2:171572863-171572913	SKMC	muscle:	n/a
9	chr2:171572863-171572913	HCF	heart:	n/a
10	chr2:171572863-171572913	HMEC	breast:	n/a
11	chr2:171572863-171572913	HRPEpiC	eye:	n/a
12	chr2:171572863-171572913	CMK	blood:	n/a
13	chr2:171572863-171572913	HIPEpiC	eye:	n/a
14	chr2:171572863-171572913	AG09309	skin:	n/a
15	chr2:171572863-171572913	HAEpiC	amniotic membrane:	n/a
16	chr2:171572863-171572913	NT2-D1	testis:	n/a
17	chr2:171572863-171572913	NHBE	bronchial:	n/a
18	chr2:171572863-171572913	BE2_C	brain:	n/a
19	chr2:171572863-171572913	H1-hESC	embryonic stem cell:	embryo
20	chr2:171572863-171572913	PFSK-1	brain:	n/a
21	chr2:171572863-171572913	GM06990	blood:	n/a
22	chr2:171572863-171572913	AG10803	skin:	n/a
23	chr2:171572863-171572913	HNPCEpiC	eye:	n/a
24	chr2:171572863-171572913	ovcar-3	ovarian:	n/a
25	chr2:171572863-171572913	PANC-1	pancreas:	n/a
26	chr2:171572863-171572913	HCPEpiC	choroid plexus:	n/a
27	chr2:171572863-171572913	GM12892	blood:	n/a
28	chr2:171572863-171572913	HPAEpiC	pulmonary alveolar:	n/a
29	chr2:171572863-171572913	HRE	kidney:	n/a
30	chr2:171572863-171572913	SK-N-MC	brain:	n/a
31	chr2:171572863-171572913	ProgFib	skin:	n/a
32	chr2:171572863-171572913	Hepatocyte	liver:	n/a
33	chr2:171572863-171572913	IMR90	lung:	fetal
34	chr2:171572863-171572913	T-47D	breast:	n/a
35	chr2:171572863-171572913	AoSMC	blood vessel:	n/a
36	chr2:171572863-171572913	HEK293	kidney:	embryo
37	chr2:171572863-171572913	ECC-1	luminal epithelium:	n/a
38	chr2:171572863-171572913	RPTEC	kidney:	n/a
39	chr2:171572863-171572913	HCT-116	colon:	n/a
40	chr2:171572863-171572913	PrEC	prostate:	n/a
41	chr2:171572863-171572913	LNCaP	prostate:	n/a
42	chr2:171572863-171572913	GM19239	blood:	n/a
43	chr2:171572863-171572913	NHDF-neo	bronchial:	n/a
44	chr2:171572863-171572913	Jurkat	blood:	n/a
45	chr2:171572863-171572913	MCF10A-Er-Src	breast:	n/a
46	chr2:171572863-171572913	U87	brain:	n/a
47	chr2:171572863-171572913	GM12878	blood:	n/a
48	chr2:171572863-171572913	HCM	heart:	n/a
49	chr2:171572863-171572913	SAEC	small airway:	n/a
50	chr2:171572863-171572913	GM12891	blood:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr2:171571171..171574868-chr2:171624858..171628652,5	K562	blood:
2	chr2:171568787..171573894-chr2:171626202..171629385,10	K562	blood:
3	chr2:171571182..171573160-chr2:171784797..171786624,2	K562	blood:

No data

Variant related genes	Relation type
LINC01124	TF binding region
LINC01124	CpG island
ENSG00000115806	Chromatin interaction
ENSG00000234350	Chromatin interaction
ENSG00000239467	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875409	chr2:171565376-171577859	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv821786	chr2:171567780-171574707	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv583609	chr2:171568633-171573309	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv583610	chr2:171568633-171573529	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv15608	chr2:171569890-171574062	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	esv3324673	chr2:171572331-171574879	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	esv1800387	chr2:171572702-171573980	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	esv1801543	chr2:171572702-171573980	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	esv1840021	chr2:171572702-171573980	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:171569200-171573000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
2	chr2:171569400-171574400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr2:171569600-171574800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
4	chr2:171569600-171575600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
5	chr2:171570000-171573200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr2:171570000-171574000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
7	chr2:171570000-171575600	Bivalent/Poised TSS	HepG2	liver
8	chr2:171570000-171576200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
9	chr2:171570200-171573800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
10	chr2:171570200-171574200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr2:171570200-171574400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
12	chr2:171570200-171576200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
13	chr2:171570400-171573000	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
14	chr2:171570400-171573400	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr2:171570400-171574000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr2:171570400-171574200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr2:171570400-171576200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr2:171570600-171573000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
19	chr2:171570600-171573400	Active TSS	Aorta	Aorta
20	chr2:171570600-171574000	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
21	chr2:171570800-171574000	Bivalent/Poised TSS	HSMM	muscle
22	chr2:171571200-171573000	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
23	chr2:171571200-171573600	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
24	chr2:171571800-171573000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
25	chr2:171571800-171573000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr2:171571800-171573400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr2:171571800-171573600	Bivalent Enhancer	Fetal Brain Male	brain
28	chr2:171571800-171574200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
29	chr2:171571800-171574200	Bivalent Enhancer	Fetal Heart	heart
30	chr2:171571800-171575200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr2:171571800-171577000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr2:171572000-171573000	Flanking Active TSS	Ovary	ovary
33	chr2:171572200-171573200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr2:171572200-171574400	Bivalent Enhancer	Stomach Mucosa	stomach
35	chr2:171572400-171573000	Active TSS	Rectal Mucosa Donor 31	rectum
36	chr2:171572400-171573000	Bivalent Enhancer	Small Intestine	intestine
37	chr2:171572400-171573000	Bivalent/Poised TSS	Thymus	Thymus
38	chr2:171572400-171573000	Bivalent/Poised TSS	NHEK	skin
39	chr2:171572400-171573200	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
40	chr2:171572400-171573400	Bivalent/Poised TSS	Fetal Brain Female	brain
41	chr2:171572400-171573400	Bivalent/Poised TSS	Psoas Muscle	Psoas
42	chr2:171572400-171573600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
43	chr2:171572400-171573800	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
44	chr2:171572400-171574000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr2:171572400-171574200	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
46	chr2:171572400-171574200	Bivalent Enhancer	Spleen	Spleen
47	chr2:171572400-171574800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
48	chr2:171572400-171575000	Bivalent Enhancer	Fetal Thymus	thymus
49	chr2:171572600-171573000	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
50	chr2:171572600-171573000	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin

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