Variant report

Variant	rs551048080
Chromosome Location	chr2:111875871-111875872
allele	C/T
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	EP300	chr2:111875430-111876031	A549	lung:	n/a	chr2:111875808-111875818 chr2:111875943-111875952
2	RCOR1	chr2:111874582-111875975	Hela-S3	cervix:	n/a	n/a
3	JUN	chr2:111875562-111875913	H1-hESC	embryonic stem cell:	n/a	n/a
4	HA-E2F1	chr2:111875171-111875933	Hela-S3	cervix:	n/a	chr2:111875853-111875865 chr2:111875857-111875864 chr2:111875857-111875864 chr2:111875857-111875864
5	NFIC	chr2:111874308-111876064	ECC-1	luminal epithelium:	n/a	n/a
6	EP300	chr2:111875485-111876000	ECC-1	luminal epithelium:	n/a	chr2:111875808-111875818 chr2:111875943-111875952
7	ZBTB7A	chr2:111875236-111875916	ECC-1	luminal epithelium:	n/a	n/a
8	SMARCB1	chr2:111874466-111876366	Hela-S3	cervix:	n/a	n/a
9	YY1	chr2:111875254-111875913	ECC-1	luminal epithelium:	n/a	n/a
10	MAFK	chr2:111875726-111876005	IMR90	lung:	n/a	n/a
11	SUZ12	chr2:111874709-111878454	NT2-D1	testis:	n/a	n/a
12	FOS	chr2:111875623-111876030	MCF10A-Er-Src	breast:	n/a	chr2:111875749-111875760
13	CEBPB	chr2:111875100-111876047	Hela-S3	cervix:	n/a	n/a
14	MAX	chr2:111874534-111876269	A549	lung:	n/a	n/a
15	TCF7L2	chr2:111875440-111876017	PANC-1	pancreas:	n/a	n/a
16	MAX	chr2:111875276-111876962	NB4	blood:	n/a	n/a
17	SUZ12	chr2:111875129-111878150	H1-hESC	embryonic stem cell:	n/a	n/a
18	E2F6	chr2:111874687-111876181	A549	lung:	n/a	chr2:111875853-111875865 chr2:111875857-111875864 chr2:111875857-111875864 chr2:111875857-111875864
19	SMARCC1	chr2:111874583-111876622	Hela-S3	cervix:	n/a	n/a
20	STAT3	chr2:111875692-111876000	MCF10A-Er-Src	breast:	n/a	n/a
21	TCF7L2	chr2:111874640-111875995	HCT-116	colon:	n/a	n/a
22	MYC	chr2:111874633-111875997	MCF10A-Er-Src	breast:	n/a	n/a
23	CTBP2	chr2:111874524-111881050	H1-hESC	embryonic stem cell:	n/a	n/a
24	BACH1	chr2:111875838-111876267	H1-hESC	embryonic stem cell:	n/a	n/a
25	E2F1	chr2:111875174-111875975	Hela-S3	cervix:	n/a	chr2:111875853-111875865 chr2:111875857-111875864 chr2:111875857-111875864 chr2:111875857-111875864
26	MAX	chr2:111874469-111876165	HCT-116	colon:	n/a	n/a
27	JUND	chr2:111875556-111875968	H1-hESC	embryonic stem cell:	n/a	n/a
28	MYC	chr2:111875612-111875931	MCF10A-Er-Src	breast:	n/a	n/a
29	RFX5	chr2:111875342-111876019	Hela-S3	cervix:	n/a	n/a
30	FOXA2	chr2:111875653-111876063	A549	lung:	n/a	n/a
31	TCF7L2	chr2:111875468-111875982	Hela-S3	cervix:	n/a	n/a
32	GATA3	chr2:111875339-111876006	A549	lung:	n/a	n/a
33	SP1	chr2:111875320-111875983	A549	lung:	n/a	n/a
34	SPI1	chr2:111875726-111876295	HL-60	blood:	n/a	chr2:111875940-111875953
35	FOSL2	chr2:111875584-111875939	A549	lung:	n/a	n/a
36	STAT3	chr2:111875556-111875965	MCF10A-Er-Src	breast:	n/a	n/a
37	RAD21	chr2:111874336-111876061	HCT-116	colon:	n/a	chr2:111874765-111874779 chr2:111875131-111875150 chr2:111874764-111874783 chr2:111874715-111874722
38	JUND	chr2:111875487-111875877	A549	lung:	n/a	n/a
39	EP300	chr2:111875322-111876059	ECC-1	luminal epithelium:	n/a	chr2:111875808-111875818 chr2:111875943-111875952
40	STAT3	chr2:111875631-111876035	MCF10A-Er-Src	breast:	n/a	n/a
41	SMC3	chr2:111874523-111876058	Hela-S3	cervix:	n/a	chr2:111874765-111874779
42	FOSL2	chr2:111875311-111876074	A549	lung:	n/a	n/a
43	FOS	chr2:111875551-111876048	HUVEC	blood vessel:	n/a	chr2:111875749-111875760
44	FOS	chr2:111875596-111875960	MCF10A-Er-Src	breast:	n/a	chr2:111875749-111875760
45	SPI1	chr2:111875809-111876065	HL-60	blood:	n/a	chr2:111875940-111875953
46	CEBPB	chr2:111875474-111875880	ECC-1	luminal epithelium:	n/a	n/a
47	MAX	chr2:111874652-111875986	Hela-S3	cervix:	n/a	n/a
48	STAT1	chr2:111874557-111876188	Hela-S3	cervix:	n/a	chr2:111874954-111874974 chr2:111874960-111874968
49	POLR2A	chr2:111875808-111875949	Hela-S3	cervix:	n/a	n/a
50	TCF12	chr2:111875218-111876138	ECC-1	luminal epithelium:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:111875858-111875908	HPAEpiC	pulmonary alveolar:	n/a
2	chr2:111875858-111875908	K562	blood:	n/a
3	chr2:111875858-111875908	SK-N-SH_RA	brain:	n/a
4	chr2:111875858-111875908	NHDF-neo	bronchial:	n/a
5	chr2:111875858-111875908	NH-A	brain:	n/a
6	chr2:111875858-111875908	PrEC	prostate:	n/a
7	chr2:111875858-111875908	GM12878	blood:	n/a
8	chr2:111875858-111875908	HRPEpiC	eye:	n/a
9	chr2:111875858-111875908	HMEC	breast:	n/a
10	chr2:111875858-111875908	BE2_C	brain:	n/a
11	chr2:111875858-111875908	GM19239	blood:	n/a
12	chr2:111875858-111875908	H1-hESC	embryonic stem cell:	embryo
13	chr2:111875858-111875908	AoSMC	blood vessel:	n/a
14	chr2:111875858-111875908	AG04449	skin:	fetal
15	chr2:111875858-111875908	GM12891	blood:	n/a
16	chr2:111875858-111875908	HCT-116	colon:	n/a
17	chr2:111875858-111875908	RPTEC	kidney:	n/a
18	chr2:111875858-111875908	IMR90	lung:	fetal
19	chr2:111875858-111875908	HUVEC	blood vessel:	n/a
20	chr2:111875858-111875908	A549	lung:	n/a
21	chr2:111875858-111875908	PANC-1	pancreas:	n/a
22	chr2:111875858-111875908	HCPEpiC	choroid plexus:	n/a
23	chr2:111875858-111875908	Jurkat	blood:	n/a
24	chr2:111875858-111875908	AG04450	lung:	fetal
25	chr2:111875858-111875908	SAEC	small airway:	n/a
26	chr2:111875858-111875908	HCF	heart:	n/a
27	chr2:111875858-111875908	HNPCEpiC	eye:	n/a
28	chr2:111875858-111875908	GM12892	blood:	n/a
29	chr2:111875858-111875908	ovcar-3	ovarian:	n/a
30	chr2:111875858-111875908	HIPEpiC	eye:	n/a
31	chr2:111875858-111875908	SK-N-SH	brain:	n/a
32	chr2:111875858-111875908	Hepatocyte	liver:	n/a
33	chr2:111875858-111875908	U87	brain:	n/a
34	chr2:111875858-111875908	Caco-2	colon:	n/a
35	chr2:111875858-111875908	AG09309	skin:	n/a
36	chr2:111875858-111875908	HRE	kidney:	n/a
37	chr2:111875858-111875908	HEK293	kidney:	embryo
38	chr2:111875858-111875908	PFSK-1	brain:	n/a
39	chr2:111875858-111875908	CMK	blood:	n/a
40	chr2:111875858-111875908	LNCaP	prostate:	n/a
41	chr2:111875858-111875908	HepG2	liver:	n/a
42	chr2:111875858-111875908	HEEpiC	esophagus:	n/a
43	chr2:111875858-111875908	AG09319	gingival:	n/a
44	chr2:111875858-111875908	MCF10A-Er-Src	breast:	n/a
45	chr2:111875858-111875908	T-47D	breast:	n/a
46	chr2:111875858-111875908	ProgFib	skin:	n/a
47	chr2:111875858-111875908	ECC-1	luminal epithelium:	n/a
48	chr2:111875858-111875908	HCM	heart:	n/a
49	chr2:111875858-111875908	Hela-S3	cervix:	n/a
50	chr2:111875858-111875908	HL-60	blood:	n/a

Variant related genes	Relation type
BCL2L11	TF binding region
ENSG00000204581	TF binding region
BCL2L11	CpG island
ENSG00000204581	CpG island

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874838	chr2:111376870-112046226	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv834331	chr2:111812139-112004678	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv874842	chr2:111870220-111892984	Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv829618	chr2:111875627-111881547	Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Enhancers Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:111874400-111876000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
2	chr2:111874400-111876000	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
3	chr2:111874400-111876200	Active TSS	Brain Anterior Caudate	brain
4	chr2:111874400-111876600	Bivalent Enhancer	Fetal Heart	heart
5	chr2:111874400-111876800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr2:111874400-111877800	Enhancers	Spleen	Spleen
7	chr2:111874400-111878200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
8	chr2:111874400-111879800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
9	chr2:111874600-111876000	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:111874600-111876000	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
11	chr2:111874600-111876000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
12	chr2:111874600-111876000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
13	chr2:111874600-111876000	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr2:111874600-111876000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
15	chr2:111874600-111876200	Flanking Active TSS	Brain Substantia Nigra	brain
16	chr2:111874600-111876800	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
17	chr2:111874600-111878000	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
18	chr2:111874600-111878200	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
19	chr2:111874600-111878200	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
20	chr2:111874600-111878400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr2:111874800-111876000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
22	chr2:111874800-111876000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
23	chr2:111874800-111876200	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr2:111874800-111876200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr2:111874800-111876400	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
26	chr2:111874800-111877000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr2:111874800-111877000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
28	chr2:111874800-111877000	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
29	chr2:111874800-111877200	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
30	chr2:111874800-111877400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
31	chr2:111874800-111877400	Flanking Bivalent TSS/Enh	Primary T killer naive cells fromperipheralblood	blood
32	chr2:111874800-111877400	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
33	chr2:111874800-111877600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
34	chr2:111874800-111878000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
35	chr2:111874800-111878000	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
36	chr2:111874800-111878000	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
37	chr2:111874800-111878000	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr2:111874800-111878000	Flanking Bivalent TSS/Enh	Thymus	Thymus
39	chr2:111874800-111878200	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
40	chr2:111874800-111878200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr2:111874800-111878200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr2:111874800-111878200	Flanking Active TSS	Adipose Nuclei	Adipose
43	chr2:111874800-111878200	Flanking Active TSS	Right Ventricle	heart
44	chr2:111874800-111879600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr2:111874800-111880000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
46	chr2:111875000-111876200	Active TSS	NHDF-Ad	bronchial
47	chr2:111875000-111876400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr2:111875000-111876800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr2:111875000-111877000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr2:111875000-111877800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell

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