Variant report

Variant	rs7154877
Chromosome Location	chr14:68067123-68067124
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:325)
CpG islands
(count:122)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:325 , 50 per page) page: 1 2 3 4 5 6 7

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	chr14:68066721-68067222	K562	blood:	n/a	n/a
3	YY1	chr14:68066672-68067244	SK-N-SH_RA	brain:	n/a	chr14:68066934-68066948
4	FOXM1	chr14:68066474-68067272	GM12878	blood:	n/a	n/a
5	POLR2A	chr14:68066532-68067444	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr14:68066477-68067375	ProgFib	skin:	n/a	n/a
7	FOSL2	chr14:68066765-68067239	HepG2	liver:	n/a	n/a
8	POLR2A	chr14:68066659-68067271	HCT-116	colon:	n/a	n/a
9	TAF1	chr14:68066718-68067309	A549	lung:	n/a	n/a
10	YY1	chr14:68066665-68067167	GM12891	blood:	n/a	chr14:68066934-68066948
11	POLR2A	chr14:68066432-68067259	K562	blood:	n/a	n/a
12	MAZ	chr14:68066432-68067254	K562	blood:	n/a	n/a
13	POLR2A	chr14:68066714-68067357	PFSK-1	brain:	n/a	n/a
14	CTCF	chr14:68066644-68067172	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr14:68066667-68067301	GM12878	blood:	n/a	n/a
16	POLR2A	chr14:68066563-68067328	Hela-S3	cervix:	n/a	n/a
17	MAX	chr14:68066731-68067360	SK-N-SH	brain:	n/a	n/a
18	TCF3	chr14:68066777-68067127	GM12878	blood:	n/a	n/a
19	HCFC1	chr14:68065704-68067496	Hela-S3	cervix:	n/a	n/a
20	MAZ	chr14:68066537-68067233	GM12878	blood:	n/a	n/a
21	POLR2A	chr14:68066171-68067360	PBDE	blood:	n/a	n/a
22	MYBL2	chr14:68066448-68067148	HepG2	liver:	n/a	n/a
23	MYC	chr14:68066688-68067171	HepG2	liver:	n/a	n/a
24	EP300	chr14:68066637-68067149	H1-hESC	embryonic stem cell:	n/a	chr14:68066998-68067014
25	JUND	chr14:68066801-68067181	H1-hESC	embryonic stem cell:	n/a	n/a
26	MAX	chr14:68066698-68067238	HepG2	liver:	n/a	n/a
27	POLR2A	chr14:68066549-68067318	GM19193	blood:	n/a	n/a
28	CTCF	chr14:68066651-68067223	H1-hESC	embryonic stem cell:	n/a	n/a
29	PML	chr14:68066683-68067199	K562	blood:	n/a	n/a
30	TAF1	chr14:68066446-68067324	ECC-1	luminal epithelium:	n/a	n/a
31	MAZ	chr14:68066342-68067188	Hela-S3	cervix:	n/a	n/a
32	ZNF143	chr14:68066402-68067179	GM12878	blood:	n/a	n/a
33	EP300	chr14:68066686-68067147	HepG2	liver:	n/a	chr14:68066998-68067014
34	ELF1	chr14:68066334-68067442	MCF-7	breast:	n/a	chr14:68067000-68067009
35	GATA1	chr14:68065995-68067231	PBDE	blood:	n/a	n/a
36	POLR2A	chr14:68066473-68067391	GM18951	blood:	n/a	n/a
37	ELK4	chr14:68066462-68067252	Hela-S3	cervix:	n/a	chr14:68066998-68067009
38	GABPA	chr14:68066846-68067142	HepG2	liver:	n/a	n/a
39	GABPA	chr14:68066418-68067354	A549	lung:	n/a	n/a
40	CTCF	chr14:68066734-68067145	Spleen_OC	spleen:	n/a	n/a
41	MAX	chr14:68066700-68067360	H1-hESC	embryonic stem cell:	n/a	n/a
42	CREB1	chr14:68066724-68067408	HepG2	liver:	n/a	n/a
43	ATF1	chr14:68066362-68067170	K562	blood:	n/a	n/a
44	POLR2A	chr14:68066473-68067382	Raji	blood:	n/a	n/a
45	POLR2A	chr14:68066639-68067278	A549	lung:	n/a	n/a
46	ELF1	chr14:68066699-68067277	K562	blood:	n/a	chr14:68067000-68067009
47	E2F6	chr14:68066255-68067348	K562	blood:	n/a	chr14:68066610-68066622
48	CHD2	chr14:68066370-68067206	Hela-S3	cervix:	n/a	n/a
49	MYC	chr14:68066692-68067200	MCF-7	breast:	n/a	n/a
50	KAP1	chr14:68066286-68067275	HEK293	kidney:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:68067090-68067140	HRPEpiC	eye:	n/a
2	chr14:68067090-68067140	HPAEpiC	pulmonary alveolar:	n/a
3	chr14:68067098-68067148	K562	blood:	n/a
4	chr14:68067090-68067140	Hela-S3	cervix:	n/a
5	chr14:68067098-68067148	ovcar-3	ovarian:	n/a
6	chr14:68067090-68067140	HMEC	breast:	n/a
7	chr14:68067098-68067148	CMK	blood:	n/a
8	chr14:68067098-68067148	RPTEC	kidney:	n/a
9	chr14:68067090-68067140	HAEpiC	amniotic membrane:	n/a
10	chr14:68067090-68067140	BE2_C	brain:	n/a
11	chr14:68067098-68067148	U87	brain:	n/a
12	chr14:68067090-68067140	ovcar-3	ovarian:	n/a
13	chr14:68067098-68067148	HUVEC	blood vessel:	n/a
14	chr14:68067090-68067140	NHBE	bronchial:	n/a
15	chr14:68067090-68067140	NT2-D1	testis:	n/a
16	chr14:68067090-68067140	HCM	heart:	n/a
17	chr14:68067090-68067140	GM12892	blood:	n/a
18	chr14:68067090-68067140	SK-N-SH	brain:	n/a
19	chr14:68067098-68067148	HIPEpiC	eye:	n/a
20	chr14:68067090-68067140	K562	blood:	n/a
21	chr14:68067098-68067148	AG10803	skin:	n/a
22	chr14:68067090-68067140	BJ	skin:	n/a
23	chr14:68067098-68067148	NHDF-neo	bronchial:	n/a
24	chr14:68067090-68067140	MCF-7	breast:	n/a
25	chr14:68067098-68067148	HEK293	kidney:	embryo
26	chr14:68067098-68067148	HCM	heart:	n/a
27	chr14:68067098-68067148	HCPEpiC	choroid plexus:	n/a
28	chr14:68067090-68067140	HepG2	liver:	n/a
29	chr14:68067098-68067148	ECC-1	luminal epithelium:	n/a
30	chr14:68067090-68067140	HUVEC	blood vessel:	n/a
31	chr14:68067098-68067148	PANC-1	pancreas:	n/a
32	chr14:68067090-68067140	HNPCEpiC	eye:	n/a
33	chr14:68067090-68067140	Hepatocyte	liver:	n/a
34	chr14:68067090-68067140	NB4	blood:	n/a
35	chr14:68067090-68067140	SK-N-SH_RA	brain:	n/a
36	chr14:68067098-68067148	HRE	kidney:	n/a
37	chr14:68067098-68067148	HRCEpiC	kidney:	n/a
38	chr14:68067098-68067148	HCF	heart:	n/a
39	chr14:68067098-68067148	HRPEpiC	eye:	n/a
40	chr14:68067098-68067148	AG09309	skin:	n/a
41	chr14:68067090-68067140	PFSK-1	brain:	n/a
42	chr14:68067098-68067148	A549	lung:	n/a
43	chr14:68067090-68067140	RPTEC	kidney:	n/a
44	chr14:68067090-68067140	AG09309	skin:	n/a
45	chr14:68067098-68067148	SK-N-SH_RA	brain:	n/a
46	chr14:68067098-68067148	HNPCEpiC	eye:	n/a
47	chr14:68067098-68067148	HCT-116	colon:	n/a
48	chr14:68067098-68067148	NH-A	brain:	n/a
49	chr14:68067090-68067140	LNCaP	prostate:	n/a
50	chr14:68067098-68067148	Caco-2	colon:	n/a

(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
PIGH	CpG island
ENSG00000054690	Chromatin interaction
ENSG00000201529	Chromatin interaction
ENSG00000081181	Chromatin interaction
ENSG00000072042	Chromatin interaction
ENSG00000100568	Chromatin interaction
ENSG00000266117	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]
rs12892280	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];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]
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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68064800-68067200	Active TSS	GM12878-XiMat	blood
2	chr14:68065400-68067400	Active TSS	K562	blood
3	chr14:68065600-68067200	Active TSS	Fetal Intestine Large	intestine
4	chr14:68065600-68067400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr14:68065600-68067400	Active TSS	NHDF-Ad	bronchial
6	chr14:68065600-68067600	Active TSS	Rectal Mucosa Donor 29	rectum
7	chr14:68065600-68067800	Active TSS	Skeletal Muscle Male	skeletal muscle
8	chr14:68065800-68067200	Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr14:68065800-68067200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr14:68065800-68067200	Active TSS	Ovary	ovary
11	chr14:68065800-68067400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr14:68065800-68067400	Active TSS	Brain Germinal Matrix	brain
13	chr14:68065800-68067400	Active TSS	Brain Substantia Nigra	brain
14	chr14:68065800-68067600	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr14:68065800-68067600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr14:68065800-68067600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr14:68065800-68067600	Active TSS	Colon Smooth Muscle	Colon
18	chr14:68065800-68067800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr14:68066000-68067200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr14:68066000-68067200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr14:68066000-68067200	Active TSS	Fetal Intestine Small	intestine
22	chr14:68066000-68067200	Active TSS	Fetal Muscle Leg	muscle
23	chr14:68066000-68067200	Active TSS	Fetal Thymus	thymus
24	chr14:68066000-68067200	Active TSS	Right Atrium	heart
25	chr14:68066000-68067200	Active TSS	Stomach Mucosa	stomach
26	chr14:68066000-68067200	Active TSS	Stomach Smooth Muscle	stomach
27	chr14:68066000-68067200	Active TSS	Hela-S3	cervix
28	chr14:68066000-68067200	Active TSS	HMEC	breast
29	chr14:68066000-68067400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
30	chr14:68066000-68067400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
31	chr14:68066000-68067400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr14:68066000-68067400	Active TSS	Aorta	Aorta
33	chr14:68066000-68067400	Active TSS	Brain Inferior Temporal Lobe	brain
34	chr14:68066000-68067400	Active TSS	Psoas Muscle	Psoas
35	chr14:68066000-68067400	Active TSS	Rectal Mucosa Donor 31	rectum
36	chr14:68066000-68067400	Active TSS	Right Ventricle	heart
37	chr14:68066000-68067400	Active TSS	NHLF	lung
38	chr14:68066000-68067600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr14:68066000-68067600	Active TSS	Thymus	Thymus
40	chr14:68066200-68067200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr14:68066200-68067200	Active TSS	Primary T helper naive cells from peripheral blood	blood
42	chr14:68066200-68067200	Active TSS	Primary T helper cells PMA-I stimulated	--
43	chr14:68066200-68067200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
44	chr14:68066200-68067200	Active TSS	Placenta	Placenta
45	chr14:68066200-68067200	Active TSS	Pancreas	Pancrea
46	chr14:68066200-68067400	Active TSS	ES-I3 Cell Line	embryonic stem cell
47	chr14:68066200-68067400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
48	chr14:68066200-68067400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr14:68066200-68067400	Active TSS	H9 Cell Line	embryonic stem cell
50	chr14:68066200-68067400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell

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