Variant report

Variant	rs536338332
Chromosome Location	chr2:205409632-205409633
allele	C/G
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	NR2F2	chr2:205409361-205410782	MCF-7	breast:	n/a	chr2:205409639-205409654
2	MAX	chr2:205409548-205411099	H1-hESC	embryonic stem cell:	n/a	n/a
3	E2F6	chr2:205409443-205411309	K562	blood:	n/a	chr2:205410532-205410544 chr2:205410300-205410310 chr2:205410216-205410226 chr2:205410041-205410052
4	TFAP2C	chr2:205409334-205410758	Hela-S3	cervix:	n/a	chr2:205410583-205410598 chr2:205409789-205409804
5	UBTF	chr2:205409609-205410664	K562	blood:	n/a	n/a
6	MAX	chr2:205409547-205410438	HCT-116	colon:	n/a	n/a
7	CEBPB	chr2:205409443-205410423	Hela-S3	cervix:	n/a	n/a
8	MAX	chr2:205409598-205410363	K562	blood:	n/a	n/a
9	POLR2A	chr2:205409614-205411156	MCF10A-Er-Src	breast:	n/a	n/a
10	MAX	chr2:205409496-205410390	MCF-7	breast:	n/a	n/a
11	MAX	chr2:205409428-205411143	MCF-7	breast:	n/a	n/a
12	MAX	chr2:205409580-205410938	K562	blood:	n/a	n/a
13	GATA3	chr2:205409431-205409832	T-47D	breast:	n/a	n/a
14	ZNF217	chr2:205409477-205410028	MCF-7	breast:	n/a	n/a
15	KAP1	chr2:205409352-205410187	HEK293	kidney:	n/a	n/a
16	CHD2	chr2:205409564-205410305	Hela-S3	cervix:	n/a	n/a
17	HA-E2F1	chr2:205409291-205411382	MCF-7	breast:	n/a	chr2:205410532-205410544 chr2:205410300-205410310 chr2:205410216-205410226
18	GATA3	chr2:205409417-205409812	T-47D	breast:	n/a	n/a
19	TCF12	chr2:205409488-205410442	A549	lung:	n/a	chr2:205409606-205409615
20	BACH1	chr2:205409576-205409993	H1-hESC	embryonic stem cell:	n/a	n/a
21	FOXA1	chr2:205409446-205409754	T-47D	breast:	n/a	n/a
22	MAX	chr2:205409470-205411022	H1-hESC	embryonic stem cell:	n/a	n/a
23	TCF12	chr2:205409530-205411076	ECC-1	luminal epithelium:	n/a	chr2:205409606-205409615
24	SIN3AK20	chr2:205409249-205410285	MCF-7	breast:	n/a	n/a
25	POLR2A	chr2:205409629-205410501	IMR90	lung:	n/a	n/a
26	FOXA1	chr2:205409426-205409750	T-47D	breast:	n/a	n/a
27	TFAP2A	chr2:205409247-205410554	Hela-S3	cervix:	n/a	chr2:205409792-205409804 chr2:205410104-205410116 chr2:205409792-205409804 chr2:205410304-205410319 chr2:205409789-205409804 chr2:205409792-205409804 chr2:205409792-205409804
28	NR2F2	chr2:205409289-205410008	MCF-7	breast:	n/a	chr2:205409639-205409654
29	POLR2A	chr2:205409597-205410532	MCF-7	breast:	n/a	n/a
30	POLR2A	chr2:205409568-205411263	ECC-1	luminal epithelium:	n/a	n/a
31	CHD1	chr2:205409488-205411400	IMR90	lung:	n/a	n/a
32	MAX	chr2:205409535-205410410	A549	lung:	n/a	n/a
33	MAX	chr2:205409483-205411065	ECC-1	luminal epithelium:	n/a	n/a
34	GATA3	chr2:205409367-205410265	MCF-7	breast:	n/a	n/a
35	MAX	chr2:205409631-205410465	HCT-116	colon:	n/a	n/a
36	E2F6	chr2:205409478-205410624	A549	lung:	n/a	chr2:205410532-205410544 chr2:205410300-205410310 chr2:205410216-205410226 chr2:205410041-205410052
37	MAX	chr2:205409522-205411035	HepG2	liver:	n/a	n/a
38	MAX	chr2:205409538-205411136	ECC-1	luminal epithelium:	n/a	n/a
39	E2F6	chr2:205409467-205411092	H1-hESC	embryonic stem cell:	n/a	chr2:205410532-205410544 chr2:205410300-205410310 chr2:205410216-205410226 chr2:205410041-205410052
40	ZBTB7A	chr2:205409570-205411192	ECC-1	luminal epithelium:	n/a	chr2:205409832-205409839 chr2:205410391-205410402 chr2:205409847-205409858 chr2:205410390-205410401
41	MAZ	chr2:205409613-205410498	Hela-S3	cervix:	n/a	n/a
42	HDAC2	chr2:205409506-205410122	MCF-7	breast:	n/a	chr2:205409550-205409564 chr2:205409555-205409569
43	E2F6	chr2:205409613-205410851	Hela-S3	cervix:	n/a	chr2:205410532-205410544 chr2:205410300-205410310 chr2:205410216-205410226 chr2:205410041-205410052
44	MXI1	chr2:205408554-205412138	IMR90	lung:	n/a	chr2:205410553-205410562
45	ZEB1	chr2:205409455-205411225	HepG2	liver:	n/a	n/a
46	GATA3	chr2:205409339-205410160	MCF-7	breast:	n/a	n/a
47	MAX	chr2:205409501-205410523	Hela-S3	cervix:	n/a	n/a
48	TCF7L2	chr2:205409451-205410127	Hela-S3	cervix:	n/a	n/a
49	SMC3	chr2:205409581-205410271	Hela-S3	cervix:	n/a	n/a
50	E2F6	chr2:205409340-205411212	H1-hESC	embryonic stem cell:	n/a	chr2:205410532-205410544 chr2:205410300-205410310 chr2:205410216-205410226 chr2:205410041-205410052

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:205406485..205408306-chr2:205408736..205410499,2	K562	blood:
2	chr2:205396469..205398520-chr2:205407937..205409704,2	MCF-7	breast:

Variant related genes	Relation type
PARD3B	TF binding region

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	nsv964353	chr2:205303005-205473935	Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv998485	chr2:205407813-206184006	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv536122	chr2:205407813-206184006	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	esv3422948	chr2:205409232-205412080	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:205409200-205409800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr2:205409200-205409800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
3	chr2:205409200-205409800	Bivalent Enhancer	Fetal Thymus	thymus
4	chr2:205409200-205410000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
5	chr2:205409200-205410000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
6	chr2:205409200-205410000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
7	chr2:205409200-205410000	Flanking Active TSS	Adipose Nuclei	Adipose
8	chr2:205409200-205410000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
9	chr2:205409200-205410000	Flanking Active TSS	Stomach Smooth Muscle	stomach
10	chr2:205409200-205410800	Active TSS	Skeletal Muscle Female	skeletal muscle
11	chr2:205409200-205411000	Active TSS	Brain Substantia Nigra	brain
12	chr2:205409200-205411400	Active TSS	Colonic Mucosa	Colon
13	chr2:205409400-205409800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
14	chr2:205409400-205409800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:205409400-205409800	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr2:205409400-205409800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
17	chr2:205409400-205409800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
18	chr2:205409400-205409800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
19	chr2:205409400-205409800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr2:205409400-205409800	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
21	chr2:205409400-205409800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr2:205409400-205409800	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
23	chr2:205409400-205409800	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
24	chr2:205409400-205409800	Flanking Active TSS	Brain Angular Gyrus	brain
25	chr2:205409400-205409800	Flanking Active TSS	Colon Smooth Muscle	Colon
26	chr2:205409400-205409800	Flanking Active TSS	Duodenum Mucosa	Duodenum
27	chr2:205409400-205409800	Flanking Active TSS	Fetal Heart	heart
28	chr2:205409400-205409800	Flanking Active TSS	Fetal Lung	lung
29	chr2:205409400-205409800	Flanking Active TSS	Fetal Muscle Leg	muscle
30	chr2:205409400-205409800	Flanking Active TSS	Stomach Mucosa	stomach
31	chr2:205409400-205409800	Weak transcription	Spleen	Spleen
32	chr2:205409400-205409800	Flanking Active TSS	HSMMtube	muscle
33	chr2:205409400-205409800	Flanking Active TSS	NHDF-Ad	bronchial
34	chr2:205409400-205410000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr2:205409400-205410000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr2:205409400-205410000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr2:205409400-205410000	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
38	chr2:205409400-205410000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
39	chr2:205409400-205410000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
40	chr2:205409400-205410000	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
41	chr2:205409400-205410000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr2:205409400-205410000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
43	chr2:205409400-205410000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr2:205409400-205410000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr2:205409400-205410000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr2:205409400-205410000	Flanking Active TSS	Liver	Liver
47	chr2:205409400-205410000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
48	chr2:205409400-205410000	Flanking Active TSS	Rectal Smooth Muscle	rectum
49	chr2:205409400-205410000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
50	chr2:205409400-205410000	Flanking Active TSS	Hela-S3	cervix

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