Variant report

Variant	rs12892280
Chromosome Location	chr14:68067276-68067277
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:154)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:154 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:68066716-68067369	GM12892	blood:	n/a	n/a
2	POLR2A	chr14:68066532-68067444	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr14:68066477-68067375	ProgFib	skin:	n/a	n/a
4	TAF1	chr14:68066718-68067309	A549	lung:	n/a	n/a
5	POLR2A	chr14:68066714-68067357	PFSK-1	brain:	n/a	n/a
6	POLR2A	chr14:68066667-68067301	GM12878	blood:	n/a	n/a
7	POLR2A	chr14:68066563-68067328	Hela-S3	cervix:	n/a	n/a
8	MAX	chr14:68066731-68067360	SK-N-SH	brain:	n/a	n/a
9	HCFC1	chr14:68065704-68067496	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr14:68066171-68067360	PBDE	blood:	n/a	n/a
11	POLR2A	chr14:68066549-68067318	GM19193	blood:	n/a	n/a
12	TAF1	chr14:68066446-68067324	ECC-1	luminal epithelium:	n/a	n/a
13	ELF1	chr14:68066334-68067442	MCF-7	breast:	n/a	chr14:68067000-68067009
14	POLR2A	chr14:68066473-68067391	GM18951	blood:	n/a	n/a
15	GABPA	chr14:68066418-68067354	A549	lung:	n/a	n/a
16	MAX	chr14:68066700-68067360	H1-hESC	embryonic stem cell:	n/a	n/a
17	CREB1	chr14:68066724-68067408	HepG2	liver:	n/a	n/a
18	POLR2A	chr14:68066473-68067382	Raji	blood:	n/a	n/a
19	POLR2A	chr14:68066639-68067278	A549	lung:	n/a	n/a
20	ELF1	chr14:68066699-68067277	K562	blood:	n/a	chr14:68067000-68067009
21	E2F6	chr14:68066255-68067348	K562	blood:	n/a	chr14:68066610-68066622
22	POLR2A	chr14:68066462-68067318	NB4	blood:	n/a	n/a
23	POLR2A	chr14:68066671-68067293	Gliobla	brain:	n/a	n/a
24	MAX	chr14:68066281-68067360	MCF-7	breast:	n/a	n/a
25	POLR2A	chr14:68066631-68067320	HUVEC	blood vessel:	n/a	n/a
26	GABPA	chr14:68066268-68067398	MCF-7	breast:	n/a	n/a
27	MXI1	chr14:68066227-68067346	IMR90	lung:	n/a	n/a
28	SMARCB1	chr14:68066427-68067380	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr14:68066678-68067308	GM12878	blood:	n/a	n/a
30	POLR2A	chr14:68066572-68067482	MCF-7	breast:	n/a	n/a
31	HNF4A	chr14:68066858-68067283	HepG2	liver:	n/a	n/a
32	CTCF	chr14:68067240-68067390	HUVEC	blood vessel:	n/a	n/a
33	POLR2A	chr14:68066534-68067356	HUVEC	blood vessel:	n/a	n/a
34	POLR2A	chr14:68066677-68067370	PFSK-1	brain:	n/a	n/a
35	POLR2A	chr14:68066479-68067308	GM15510	blood:	n/a	n/a
36	TCF12	chr14:68066699-68067352	ECC-1	luminal epithelium:	n/a	n/a
37	POLR2A	chr14:68066293-68067343	HEK293	kidney:	n/a	n/a
38	POLR2A	chr14:68066471-68067316	GM18526	blood:	n/a	n/a
39	CREB1	chr14:68066713-68067308	K562	blood:	n/a	n/a
40	HA-E2F1	chr14:68066350-68067330	MCF-7	breast:	n/a	chr14:68066610-68066622
41	TCF12	chr14:68066271-68067466	A549	lung:	n/a	n/a
42	MAZ	chr14:68066425-68067345	IMR90	lung:	n/a	n/a
43	GABPA	chr14:68066676-68067406	K562	blood:	n/a	n/a
44	POLR2A	chr14:68066310-68067312	MCF10A-Er-Src	breast:	n/a	n/a
45	POLR2A	chr14:68066332-68067354	HepG2	liver:	n/a	n/a
46	POLR2A	chr14:68066686-68067315	HepG2	liver:	n/a	n/a
47	POLR2A	chr14:68066329-68067338	MCF10A-Er-Src	breast:	n/a	n/a
48	POLR2A	chr14:68066701-68067384	H1-neurons	neurons:	n/a	n/a
49	MXI1	chr14:68065757-68067458	SK-N-SH	brain:	n/a	n/a
50	POLR2A	chr14:68066683-68067299	GM12891	blood:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:68065533..68067898-chr14:68086654..68089518,2	K562	blood:
2	chr14:68067053..68068566-chr14:68070076..68072471,2	K562	blood:
3	chr14:68052173..68055128-chr14:68065007..68067717,3	K562	blood:
4	chr14:68066197..68068186-chr17:66090683..66092203,2	MCF-7	breast:
5	chr14:68064718..68068935-chr14:68139775..68143920,7	MCF-7	breast:
6	chr14:68065568..68068491-chr14:68083250..68085597,2	K562	blood:
7	chr14:68065544..68068481-chr14:68141245..68142843,2	K562	blood:
8	chr14:68065024..68068542-chr14:68160973..68163130,4	K562	blood:
9	chr14:68033912..68036171-chr14:68066958..68069605,2	MCF-7	breast:

No data

Variant related genes	Relation type
PIGH	TF binding region
ENSG00000054690	Chromatin interaction
ENSG00000100568	Chromatin interaction
ENSG00000081181	Chromatin interaction
ENSG00000201529	Chromatin interaction
ENSG00000266117	Chromatin interaction
ENSG00000072042	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10133858	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10134513	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11849600	1.00[EUR][1000 genomes]
rs2234515	1.00[EUR][1000 genomes]
rs28417709	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28521930	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28629772	1.00[AMR][1000 genomes]
rs28705873	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs45462391	1.00[EUR][1000 genomes]
rs45584632	1.00[EUR][1000 genomes]
rs4899213	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7154825	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7154877	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7154887	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7160492	1.00[EUR][1000 genomes]

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	nsv456331	chr14:67732861-68103780	Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv564961	chr14:67732861-68103780	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv470651	chr14:67732861-68113293	Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS 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 miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv902066	chr14:67873128-68103780	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68065400-68067400	Active TSS	K562	blood
2	chr14:68065600-68067400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr14:68065600-68067400	Active TSS	NHDF-Ad	bronchial
4	chr14:68065600-68067600	Active TSS	Rectal Mucosa Donor 29	rectum
5	chr14:68065600-68067800	Active TSS	Skeletal Muscle Male	skeletal muscle
6	chr14:68065800-68067400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr14:68065800-68067400	Active TSS	Brain Germinal Matrix	brain
8	chr14:68065800-68067400	Active TSS	Brain Substantia Nigra	brain
9	chr14:68065800-68067600	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr14:68065800-68067600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr14:68065800-68067600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr14:68065800-68067600	Active TSS	Colon Smooth Muscle	Colon
13	chr14:68065800-68067800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr14:68066000-68067400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
15	chr14:68066000-68067400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
16	chr14:68066000-68067400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr14:68066000-68067400	Active TSS	Aorta	Aorta
18	chr14:68066000-68067400	Active TSS	Brain Inferior Temporal Lobe	brain
19	chr14:68066000-68067400	Active TSS	Psoas Muscle	Psoas
20	chr14:68066000-68067400	Active TSS	Rectal Mucosa Donor 31	rectum
21	chr14:68066000-68067400	Active TSS	Right Ventricle	heart
22	chr14:68066000-68067400	Active TSS	NHLF	lung
23	chr14:68066000-68067600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr14:68066000-68067600	Active TSS	Thymus	Thymus
25	chr14:68066200-68067400	Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr14:68066200-68067400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
27	chr14:68066200-68067400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr14:68066200-68067400	Active TSS	H9 Cell Line	embryonic stem cell
29	chr14:68066200-68067400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
30	chr14:68066200-68067400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr14:68066200-68067400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr14:68066200-68067400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
33	chr14:68066200-68067400	Active TSS	Esophagus	oesophagus
34	chr14:68066200-68067400	Active TSS	Pancreatic Islets	Pancreatic Islet
35	chr14:68066200-68067400	Active TSS	Fetal Stomach	stomach
36	chr14:68066200-68067400	Active TSS	Gastric	stomach
37	chr14:68066200-68067400	Active TSS	Left Ventricle	heart
38	chr14:68066200-68067400	Active TSS	Placenta Amnion	Placenta Amnion
39	chr14:68066200-68067400	Active TSS	Sigmoid Colon	Sigmoid Colon
40	chr14:68066200-68067400	Active TSS	A549	lung
41	chr14:68066200-68067600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
42	chr14:68066200-68067600	Active TSS	Brain Hippocampus Middle	brain
43	chr14:68066200-68067600	Active TSS	Colonic Mucosa	Colon
44	chr14:68066200-68067600	Active TSS	NHEK	skin
45	chr14:68066200-68067800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr14:68066400-68067400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr14:68066400-68067400	Active TSS	HUES48 Cell Line	embryonic stem cell
48	chr14:68066400-68067400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
49	chr14:68066400-68067400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
50	chr14:68066400-68067400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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