Variant report

Variant	rs532439027
Chromosome Location	chr16:70473294-70473295
allele	A/C
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	ZBTB7A	chr16:70472133-70473628	ECC-1	luminal epithelium:	n/a	chr16:70472802-70472810 chr16:70473200-70473209
2	POLR2A	chr16:70473255-70473523	H1-hESC	embryonic stem cell:	n/a	n/a
3	SIX5	chr16:70472915-70473534	GM12878	blood:	n/a	chr16:70473240-70473249 chr16:70473238-70473247
4	POLR2A	chr16:70473277-70473642	GM12891	blood:	n/a	n/a
5	MAX	chr16:70472908-70473708	K562	blood:	n/a	n/a
6	POLR2A	chr16:70473248-70474246	HepG2	liver:	n/a	n/a
7	TAF1	chr16:70472680-70473589	GM12878	blood:	n/a	n/a
8	JUN	chr16:70472940-70474455	K562	blood:	n/a	n/a
9	IRF1	chr16:70473091-70473415	K562	blood:	n/a	n/a
10	CREB1	chr16:70472803-70473698	K562	blood:	n/a	n/a
11	ETS1	chr16:70472918-70473488	GM12878	blood:	n/a	chr16:70473156-70473167 chr16:70473186-70473199 chr16:70473279-70473292 chr16:70473159-70473170 chr16:70473236-70473249
12	MYBL2	chr16:70472928-70474485	HepG2	liver:	n/a	n/a
13	EP300	chr16:70472897-70473412	H1-hESC	embryonic stem cell:	n/a	chr16:70473158-70473174
14	CTCF	chr16:70473180-70473330	GM12873	blood:	n/a	n/a
15	POLR2A	chr16:70472328-70473649	GM15510	blood:	n/a	n/a
16	FOXP2	chr16:70472875-70473510	PFSK-1	brain:	n/a	n/a
17	BCLAF1	chr16:70473010-70473552	GM12878	blood:	n/a	chr16:70473155-70473164 chr16:70473484-70473497
18	EGR1	chr16:70473000-70473365	K562	blood:	n/a	chr16:70473174-70473198 chr16:70473237-70473261 chr16:70473115-70473128 chr16:70473268-70473292
19	TAF7	chr16:70473132-70473591	H1-hESC	embryonic stem cell:	n/a	n/a
20	ESRRA	chr16:70472844-70474303	GM12878	blood:	n/a	chr16:70473141-70473154
21	POLR2A	chr16:70473239-70473471	SK-N-SH	brain:	n/a	n/a
22	YY1	chr16:70472674-70473509	K562	blood:	n/a	chr16:70472872-70472892 chr16:70472762-70472776
23	YY1	chr16:70473038-70473516	SK-N-SH_RA	brain:	n/a	n/a
24	TAF1	chr16:70473017-70473765	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr16:70472675-70473757	GM19099	blood:	n/a	n/a
26	TAF1	chr16:70472791-70473595	ECC-1	luminal epithelium:	n/a	n/a
27	MAZ	chr16:70472673-70473653	GM12878	blood:	n/a	chr16:70472684-70472694
28	PAX5	chr16:70472575-70473661	GM12892	blood:	n/a	n/a
29	TAL1	chr16:70473085-70473383	K562	blood:	n/a	n/a
30	STAT1	chr16:70473064-70473503	GM12878	blood:	n/a	n/a
31	SMC3	chr16:70473041-70473527	Hela-S3	cervix:	n/a	chr16:70473198-70473208
32	STAT5A	chr16:70472956-70473806	GM12878	blood:	n/a	n/a
33	FOSL2	chr16:70473085-70473834	A549	lung:	n/a	n/a
34	SIX5	chr16:70472982-70473418	K562	blood:	n/a	chr16:70473240-70473249 chr16:70473238-70473247
35	ZBTB7A	chr16:70472215-70473749	K562	blood:	n/a	chr16:70472802-70472810 chr16:70473200-70473209
36	CTCF	chr16:70473180-70473330	BJ	skin:	n/a	n/a
37	CCNT2	chr16:70472194-70473665	K562	blood:	n/a	chr16:70473120-70473129 chr16:70472446-70472455
38	E2F4	chr16:70473076-70473346	MCF10A-Er-Src	breast:	n/a	n/a
39	CTCF	chr16:70473105-70473459	K562	blood:	n/a	chr16:70473373-70473386
40	CTCF	chr16:70473220-70473370	SAEC	small airway:	n/a	n/a
41	POLR2A	chr16:70473092-70473750	H1-hESC	embryonic stem cell:	n/a	n/a
42	POLR2A	chr16:70472643-70473701	GM12892	blood:	n/a	n/a
43	CTCF	chr16:70473200-70473350	AG04450	lung:	n/a	n/a
44	EP300	chr16:70472926-70473472	HepG2	liver:	n/a	chr16:70473447-70473463 chr16:70473158-70473174
45	EP300	chr16:70473101-70473525	HepG2	liver:	n/a	chr16:70473447-70473463 chr16:70473158-70473174
46	TCF12	chr16:70472882-70473681	ECC-1	luminal epithelium:	n/a	chr16:70473468-70473475
47	ZNF384	chr16:70473001-70473597	K562	blood:	n/a	n/a
48	ATF3	chr16:70473062-70473393	K562	blood:	n/a	n/a
49	SMARCB1	chr16:70472235-70473670	Hela-S3	cervix:	n/a	chr16:70473238-70473247
50	EP300	chr16:70473011-70473576	A549	lung:	n/a	chr16:70473447-70473463 chr16:70473158-70473174

No.	Distal block	Cell Line	Cell type
1	chr16:70469678..70473680-chr16:70486697..70489592,5	K562	blood:
2	chr16:70472362..70474949-chr16:70478691..70481186,3	K562	blood:
3	chr16:70455763..70457596-chr16:70471554..70474518,2	K562	blood:
4	chr16:70425305..70429574-chr16:70469861..70473545,6	K562	blood:
5	chr16:70472361..70474333-chr16:70486789..70489619,2	MCF-7	breast:
6	chr16:70470745..70475630-chr16:70476191..70481668,5	MCF-7	breast:
7	chr16:70471134..70474092-chr16:70555921..70560516,5	K562	blood:
8	chr16:70472717..70474630-chr16:70487093..70489671,2	MCF-7	breast:
9	chr16:70455430..70458238-chr16:70472208..70474351,2	MCF-7	breast:
10	chr16:70379526..70383319-chr16:70470652..70474068,4	K562	blood:
11	chr16:70470174..70475385-chr16:70486021..70489021,8	K562	blood:

Variant related genes	Relation type
ST3GAL2	TF binding region
ENSG00000157353	Chromatin interaction
ENSG00000103051	Chromatin interaction
ENSG00000168872	Chromatin interaction
ENSG00000240043	Chromatin interaction
ENSG00000261777	Chromatin interaction
ENSG00000189091	Chromatin interaction
ENSG00000157350	Chromatin interaction
ENSG00000200153	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	nsv482577	chr16:70329048-70516069	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
2	nsv833272	chr16:70369769-70569723	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
3	esv1815154	chr16:70467819-70515355	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	esv3446155	chr16:70471476-70474424	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	esv3415918	chr16:70471751-70474174	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70471000-70473800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr16:70471000-70473800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr16:70471000-70473800	Active TSS	Fetal Kidney	kidney
4	chr16:70471400-70473400	Active TSS	GM12878-XiMat	blood
5	chr16:70471400-70473800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr16:70471600-70473400	Active TSS	Fetal Lung	lung
7	chr16:70471600-70473400	Active TSS	K562	blood
8	chr16:70471600-70473800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr16:70471600-70473800	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr16:70471800-70473400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr16:70471800-70473400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr16:70471800-70473600	Active TSS	Duodenum Smooth Muscle	Duodenum
13	chr16:70471800-70473600	Active TSS	Fetal Intestine Small	intestine
14	chr16:70471800-70473800	Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr16:70471800-70473800	Active TSS	Ovary	ovary
16	chr16:70471800-70473800	Active TSS	NHDF-Ad	bronchial
17	chr16:70472000-70473400	Active TSS	Fetal Stomach	stomach
18	chr16:70472000-70473400	Active TSS	HSMMtube	muscle
19	chr16:70472000-70473400	Active TSS	NH-A	brain
20	chr16:70472000-70473600	Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr16:70472000-70473800	Active TSS	Psoas Muscle	Psoas
22	chr16:70472000-70473800	Bivalent/Poised TSS	HepG2	liver
23	chr16:70472200-70473400	Active TSS	Fetal Intestine Large	intestine
24	chr16:70472200-70473600	Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr16:70472200-70473600	Active TSS	iPS-15b Cell Line	embryonic stem cell
26	chr16:70472200-70473600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr16:70472200-70473600	Active TSS	A549	lung
28	chr16:70472200-70473800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr16:70472200-70473800	Active TSS	HUES64 Cell Line	embryonic stem cell
30	chr16:70472200-70474000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr16:70472400-70473400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr16:70472400-70473400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr16:70472400-70473400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr16:70472400-70473400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr16:70472400-70473400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr16:70472400-70473400	Active TSS	Primary neutrophils fromperipheralblood	blood
37	chr16:70472400-70473400	Active TSS	Primary T helper naive cells from peripheral blood	blood
38	chr16:70472400-70473400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
39	chr16:70472400-70473400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
40	chr16:70472400-70473400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr16:70472400-70473400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
42	chr16:70472400-70473400	Active TSS	Primary T killer memory cells from peripheral blood	blood
43	chr16:70472400-70473400	Active TSS	Muscle Satellite Cultured Cells	--
44	chr16:70472400-70473400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr16:70472400-70473400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr16:70472400-70473400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr16:70472400-70473400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr16:70472400-70473400	Active TSS	Brain Inferior Temporal Lobe	brain
49	chr16:70472400-70473400	Active TSS	Colonic Mucosa	Colon
50	chr16:70472400-70473400	Active TSS	Duodenum Mucosa	Duodenum

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