Variant report

Variant	rs546118196
Chromosome Location	chr16:47006326-47006327
allele	A/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	POLR2A	chr16:47006189-47006777	PFSK-1	brain:	n/a	n/a
2	POLR2A	chr16:47006279-47008925	GM12878	blood:	n/a	n/a
3	MAX	chr16:47006177-47008159	K562	blood:	n/a	chr16:47006377-47006384 chr16:47006376-47006385
4	POLR2A	chr16:47006263-47008909	GM18505	blood:	n/a	n/a
5	MAX	chr16:47006133-47008675	HepG2	liver:	n/a	chr16:47006377-47006384 chr16:47006376-47006385 chr16:47008457-47008468 chr16:47008377-47008387
6	PML	chr16:47006247-47008765	GM12878	blood:	n/a	n/a
7	POLR2A	chr16:47006105-47008953	GM12878	blood:	n/a	n/a
8	POLR2A	chr16:47006129-47008902	HepG2	liver:	n/a	n/a
9	POLR2A	chr16:47006029-47008800	GM12892	blood:	n/a	n/a
10	POLR2A	chr16:47006207-47007201	GM12891	blood:	n/a	n/a
11	POLR2A	chr16:47006034-47007207	GM12878	blood:	n/a	n/a
12	MAX	chr16:47006290-47008595	K562	blood:	n/a	chr16:47006377-47006384 chr16:47006376-47006385 chr16:47008457-47008468 chr16:47008377-47008387
13	ELF1	chr16:47006303-47006980	HepG2	liver:	n/a	chr16:47006872-47006884 chr16:47006527-47006538
14	MBD4	chr16:47006143-47006717	HepG2	liver:	n/a	n/a
15	ZNF263	chr16:47006255-47008040	HEK293-T-REx	kidney:	n/a	chr16:47007130-47007139 chr16:47006854-47006863
16	POLR2A	chr16:47006167-47008946	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr16:47006158-47007195	HepG2	liver:	n/a	n/a
18	GABPA	chr16:47006167-47007094	SK-N-SH	brain:	n/a	n/a
19	SPI1	chr16:47006234-47006817	HL-60	blood:	n/a	chr16:47006529-47006538
20	POLR2A	chr16:47006232-47007279	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr16:47005992-47008167	GM12878	blood:	n/a	n/a
22	MYBL2	chr16:47006288-47007077	HepG2	liver:	n/a	n/a
23	MYC	chr16:47006293-47006702	MCF10A-Er-Src	breast:	n/a	chr16:47006377-47006384 chr16:47006376-47006385
24	TBL1XR1	chr16:47006265-47007024	K562	blood:	n/a	n/a
25	MAX	chr16:47006298-47006751	H1-hESC	embryonic stem cell:	n/a	chr16:47006377-47006384 chr16:47006376-47006385
26	ELF1	chr16:47006275-47007238	K562	blood:	n/a	chr16:47007222-47007234 chr16:47006872-47006884 chr16:47006527-47006538
27	JUND	chr16:47006302-47006492	H1-hESC	embryonic stem cell:	n/a	n/a
28	MYC	chr16:47006233-47008777	NB4	blood:	n/a	chr16:47006377-47006384 chr16:47006376-47006385 chr16:47008457-47008468 chr16:47008377-47008387
29	GABPA	chr16:47006318-47007202	MCF-7	breast:	n/a	n/a
30	MAX	chr16:47006207-47008742	A549	lung:	n/a	chr16:47006377-47006384 chr16:47006376-47006385 chr16:47008457-47008468 chr16:47008377-47008387
31	WRNIP1	chr16:47006203-47007192	GM12878	blood:	n/a	n/a
32	GABPA	chr16:47006302-47006746	A549	lung:	n/a	n/a
33	MAX	chr16:47006190-47008747	NB4	blood:	n/a	chr16:47006377-47006384 chr16:47006376-47006385 chr16:47008457-47008468 chr16:47008377-47008387
34	POLR2A	chr16:47006000-47009011	GM12891	blood:	n/a	n/a
35	KAP1	chr16:47006183-47006814	U2OS	brain:	n/a	n/a
36	GABPA	chr16:47006127-47007102	A549	lung:	n/a	n/a
37	ELF1	chr16:47006230-47007260	MCF-7	breast:	n/a	chr16:47007222-47007234 chr16:47006872-47006884 chr16:47006527-47006538
38	POLR2A	chr16:47006002-47006926	HepG2	liver:	n/a	n/a
39	HEY1	chr16:47006237-47008037	K562	blood:	n/a	chr16:47007356-47007371 chr16:47007592-47007607 chr16:47007550-47007565 chr16:47007910-47007925
40	GABPA	chr16:47006097-47007247	MCF-7	breast:	n/a	n/a
41	MXI1	chr16:47006307-47008519	HepG2	liver:	n/a	n/a
42	MXI1	chr16:47005625-47008873	SK-N-SH	brain:	n/a	n/a
43	MXI1	chr16:47006086-47008565	GM12878	blood:	n/a	n/a
44	POLR2A	chr16:47006207-47006384	HepG2	liver:	n/a	n/a
45	REST	chr16:47006199-47008389	H1-neurons	neurons:	n/a	chr16:47006948-47006966 chr16:47007385-47007398 chr16:47007107-47007117 chr16:47007050-47007060 chr16:47006986-47006999
46	POLR2A	chr16:47006111-47008666	PBDE	blood:	n/a	n/a
47	POLR2A	chr16:47006122-47008081	GM12892	blood:	n/a	n/a
48	CHD1	chr16:47006325-47007124	GM12878	blood:	n/a	chr16:47007078-47007088
49	HCFC1	chr16:47005546-47008592	Hela-S3	cervix:	n/a	n/a
50	POLR2A	chr16:47005953-47008947	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:46864940..46866562-chr16:47005297..47007739,2	K562	blood:
2	chr16:47005880..47007672-chr16:48188502..48190685,2	K562	blood:
3	chr16:47005665..47009288-chr16:47176479..47179650,5	K562	blood:
4	chr16:47005815..47008447-chr16:47177298..47179122,2	K562	blood:

Variant related genes	Relation type
ENSG00000261173	TF binding region
ENSG00000155330	Chromatin interaction
ENSG00000171208	Chromatin interaction
ENSG00000260281	Chromatin interaction
ENSG00000140798	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	nsv1059456	chr16:46463770-47307580	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
2	nsv1066115	chr16:46463770-47318415	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
3	nsv1059147	chr16:46500740-47010960	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv542909	chr16:46500740-47010960	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
5	esv3439120	chr16:47006276-47008824	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 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	chr16:47004400-47008600	Active TSS	GM12878-XiMat	blood
2	chr16:47005200-47006400	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
3	chr16:47005400-47006600	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
4	chr16:47005600-47006400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr16:47005600-47006400	Flanking Active TSS	HMEC	breast
6	chr16:47005600-47006600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
7	chr16:47005600-47007600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
8	chr16:47005600-47008000	Active TSS	A549	lung
9	chr16:47005600-47008200	Active TSS	Breast Myoepithelial Primary Cells	Breast
10	chr16:47005800-47006400	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
11	chr16:47005800-47006400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
12	chr16:47005800-47006400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr16:47005800-47006600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
14	chr16:47005800-47006800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr16:47005800-47006800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr16:47005800-47006800	Flanking Active TSS	Brain Substantia Nigra	brain
17	chr16:47005800-47006800	Flanking Active TSS	Duodenum Mucosa	Duodenum
18	chr16:47005800-47006800	Flanking Active TSS	Fetal Brain Female	brain
19	chr16:47005800-47006800	Flanking Active TSS	HUVEC	blood vessel
20	chr16:47005800-47007000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr16:47005800-47007000	Transcr. at gene 5' and 3'	Dnd41	blood
22	chr16:47005800-47007000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
23	chr16:47005800-47008200	Active TSS	H1 Cell Line	embryonic stem cell
24	chr16:47005800-47008400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr16:47006000-47006400	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr16:47006000-47006400	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr16:47006000-47006400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr16:47006000-47006400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
29	chr16:47006000-47006400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
30	chr16:47006000-47006400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr16:47006000-47006400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr16:47006000-47006400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr16:47006000-47006400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
34	chr16:47006000-47006400	Flanking Active TSS	Fetal Kidney	kidney
35	chr16:47006000-47006400	Flanking Bivalent TSS/Enh	HepG2	liver
36	chr16:47006000-47006400	Transcr. at gene 5' and 3'	K562	blood
37	chr16:47006000-47006400	Flanking Active TSS	NHDF-Ad	bronchial
38	chr16:47006000-47006400	Flanking Active TSS	NHLF	lung
39	chr16:47006000-47006600	Flanking Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr16:47006000-47006600	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr16:47006000-47006600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr16:47006000-47006600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
43	chr16:47006000-47006600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
44	chr16:47006000-47006600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
45	chr16:47006000-47006600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
46	chr16:47006000-47006600	Flanking Active TSS	Brain Angular Gyrus	brain
47	chr16:47006000-47006600	Flanking Active TSS	Brain Anterior Caudate	brain
48	chr16:47006000-47006600	Flanking Active TSS	Brain Hippocampus Middle	brain
49	chr16:47006000-47006600	Flanking Active TSS	Colon Smooth Muscle	Colon
50	chr16:47006000-47006600	Flanking Active TSS	Fetal Brain Male	brain

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