Variant report

Variant	rs111252426
Chromosome Location	chr14:45605453-45605454
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:178)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:178 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GABPA	chr14:45604403-45605539	A549	lung:	n/a	n/a
2	POLR2A	chr14:45604842-45605839	K562	blood:	n/a	n/a
3	POLR2A	chr14:45602710-45605782	GM12891	blood:	n/a	n/a
4	SIN3AK20	chr14:45604603-45606108	MCF-7	breast:	n/a	n/a
5	UBTF	chr14:45604793-45605726	K562	blood:	n/a	n/a
6	REST	chr14:45602751-45605945	H1-neurons	neurons:	n/a	n/a
7	TAF1	chr14:45605007-45605526	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr14:45604727-45605483	HUVEC	blood vessel:	n/a	n/a
9	STAT3	chr14:45604760-45605597	MCF10A-Er-Src	breast:	n/a	chr14:45605044-45605053 chr14:45605043-45605054 chr14:45605045-45605054 chr14:45605039-45605059 chr14:45605039-45605059 chr14:45605042-45605056 chr14:45605045-45605053
10	GTF2B	chr14:45604944-45605652	K562	blood:	n/a	n/a
11	TCF12	chr14:45604838-45605521	ECC-1	luminal epithelium:	n/a	n/a
12	WRNIP1	chr14:45604534-45605879	GM12878	blood:	n/a	n/a
13	HDAC2	chr14:45604854-45605609	MCF-7	breast:	n/a	n/a
14	POLR2A	chr14:45603099-45605645	GM18951	blood:	n/a	n/a
15	POLR2A	chr14:45604852-45605610	GM12892	blood:	n/a	n/a
16	POLR2A	chr14:45604937-45605631	MCF-7	breast:	n/a	n/a
17	RCOR1	chr14:45604480-45605644	Hela-S3	cervix:	n/a	n/a
18	YY1	chr14:45605238-45605580	GM12891	blood:	n/a	n/a
19	GABPA	chr14:45604723-45605599	K562	blood:	n/a	n/a
20	TCF12	chr14:45604478-45605563	A549	lung:	n/a	n/a
21	E2F4	chr14:45604892-45605694	Hela-S3	cervix:	n/a	chr14:45605056-45605065
22	MAX	chr14:45604885-45605493	K562	blood:	n/a	n/a
23	MAX	chr14:45604741-45606030	MCF-7	breast:	n/a	n/a
24	MAX	chr14:45604761-45605455	ECC-1	luminal epithelium:	n/a	n/a
25	MAX	chr14:45604677-45605886	NB4	blood:	n/a	n/a
26	MAX	chr14:45604622-45605988	A549	lung:	n/a	n/a
27	POLR2A	chr14:45604988-45605547	GM12878	blood:	n/a	n/a
28	GABPA	chr14:45604455-45605984	MCF-7	breast:	n/a	n/a
29	GATA3	chr14:45604757-45605454	T-47D	breast:	n/a	n/a
30	RUNX3	chr14:45604740-45605601	GM12878	blood:	n/a	n/a
31	E2F4	chr14:45604898-45605683	K562	blood:	n/a	chr14:45605056-45605065
32	MTA3	chr14:45604570-45605795	GM12878	blood:	n/a	n/a
33	PML	chr14:45604559-45605466	GM12878	blood:	n/a	n/a
34	POLR2A	chr14:45604774-45605776	Hela-S3	cervix:	n/a	n/a
35	HCFC1	chr14:45602844-45606700	Hela-S3	cervix:	n/a	n/a
36	YY1	chr14:45604979-45605600	K562	blood:	n/a	chr14:45604982-45604998
37	MAZ	chr14:45604764-45605656	K562	blood:	n/a	n/a
38	ZNF143	chr14:45604548-45605715	K562	blood:	n/a	n/a
39	SIN3AK20	chr14:45604756-45605484	A549	lung:	n/a	n/a
40	MXI1	chr14:45604433-45606343	IMR90	lung:	n/a	n/a
41	MYC	chr14:45603191-45605877	K562	blood:	n/a	chr14:45603665-45603675 chr14:45603452-45603462
42	SIN3AK20	chr14:45604875-45605613	H1-hESC	embryonic stem cell:	n/a	n/a
43	REST	chr14:45604774-45605552	HL-60	blood:	n/a	n/a
44	ELK1	chr14:45604677-45605617	Hela-S3	cervix:	n/a	n/a
45	TAF1	chr14:45604831-45605584	Hela-S3	cervix:	n/a	n/a
46	TAF1	chr14:45604608-45605645	ECC-1	luminal epithelium:	n/a	n/a
47	TBP	chr14:45603138-45605504	K562	blood:	n/a	n/a
48	MAX	chr14:45604857-45605719	GM12878	blood:	n/a	n/a
49	CHD2	chr14:45604517-45605513	GM12878	blood:	n/a	n/a
50	POLR2A	chr14:45604848-45605582	PFSK-1	brain:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:62622597..62623448-chr14:45605123..45605811,2	Hela-S3	cervix:
2	chr14:45552000..45555852-chr14:45600098..45605984,10	MCF-7	breast:
3	chr14:45602054..45606945-chr14:45719959..45724414,9	MCF-7	breast:
4	chr14:45365342..45368511-chr14:45602012..45605909,4	MCF-7	breast:
5	chr14:45429027..45431300-chr14:45604077..45605830,2	K562	blood:
6	chr14:45604735..45605643-chr5:147762868..147763799,2	Hela-S3	cervix:
7	chr14:45428391..45434782-chr14:45601313..45606393,12	MCF-7	breast:
8	chr14:45428929..45435608-chr14:45601966..45608462,12	MCF-7	breast:
9	chr14:45380875..45383162-chr14:45604875..45606595,2	MCF-7	breast:
10	chr14:45601339..45606570-chr14:45722040..45724234,5	MCF-7	breast:

No data

Variant related genes	Relation type
FKBP3	TF binding region
FANCM	TF binding region
ENSG00000258949	Chromatin interaction
ENSG00000179454	Chromatin interaction
ENSG00000198718	Chromatin interaction
ENSG00000258633	Chromatin interaction
ENSG00000247199	Chromatin interaction
ENSG00000249163	Chromatin interaction
ENSG00000185246	Chromatin interaction
ENSG00000179476	Chromatin interaction
ENSG00000255717	Chromatin interaction
ENSG00000129534	Chromatin interaction
ENSG00000145868	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv901841	chr14:45198196-45719643	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	esv1795667	chr14:45361680-45721052	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	esv1794986	chr14:45368685-45650813	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	esv1803131	chr14:45441932-45726848	Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv933364	chr14:45467086-45705844	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv901842	chr14:45506857-45713358	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv901843	chr14:45506857-45833490	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
8	nsv832785	chr14:45520670-45710741	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
9	esv1800510	chr14:45572528-45650813	Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	25 gene(s)	inside rSNPs	diseases
10	nsv530814	chr14:45604432-46198418	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 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	chr14:45600600-45608600	Active TSS	GM12878-XiMat	blood
2	chr14:45602000-45606600	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr14:45602000-45607400	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr14:45602000-45607400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr14:45602000-45608200	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr14:45602200-45605600	Active TSS	Skeletal Muscle Male	skeletal muscle
7	chr14:45602200-45606000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr14:45602200-45606000	Active TSS	iPS-18 Cell Line	embryonic stem cell
9	chr14:45602200-45606200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr14:45602200-45606400	Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr14:45602200-45607200	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr14:45602200-45607600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr14:45602200-45607600	Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr14:45602200-45608000	Active TSS	K562	blood
15	chr14:45602400-45606000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr14:45602400-45606400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr14:45602400-45606600	Active TSS	Hela-S3	cervix
18	chr14:45602400-45606800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr14:45602600-45605600	Active TSS	Brain Angular Gyrus	brain
20	chr14:45602600-45605600	Active TSS	Brain Anterior Caudate	brain
21	chr14:45602600-45605600	Active TSS	Colon Smooth Muscle	Colon
22	chr14:45602600-45605600	Active TSS	Psoas Muscle	Psoas
23	chr14:45602600-45606000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr14:45602600-45606200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr14:45602600-45606200	Active TSS	Right Atrium	heart
26	chr14:45602600-45606400	Active TSS	Right Ventricle	heart
27	chr14:45602600-45606400	Active TSS	HSMMtube	muscle
28	chr14:45602600-45606600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr14:45602600-45606600	Active TSS	Muscle Satellite Cultured Cells	--
30	chr14:45602600-45606600	Active TSS	Fetal Kidney	kidney
31	chr14:45602600-45606600	Active TSS	HSMM	muscle
32	chr14:45602600-45606800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
33	chr14:45602600-45606800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr14:45602600-45606800	Active TSS	H9 Cell Line	embryonic stem cell
35	chr14:45602600-45607000	Active TSS	H1 Cell Line	embryonic stem cell
36	chr14:45602600-45607400	Active TSS	NHLF	lung
37	chr14:45602800-45605600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr14:45602800-45605600	Active TSS	Brain Hippocampus Middle	brain
39	chr14:45602800-45605600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr14:45602800-45605600	Active TSS	Brain Substantia Nigra	brain
41	chr14:45602800-45605600	Active TSS	Fetal Brain Male	brain
42	chr14:45602800-45605600	Active TSS	HUVEC	blood vessel
43	chr14:45602800-45605800	Active TSS	Breast Myoepithelial Primary Cells	Breast
44	chr14:45602800-45605800	Active TSS	Pancreatic Islets	Pancreatic Islet
45	chr14:45602800-45605800	Active TSS	Stomach Mucosa	stomach
46	chr14:45602800-45606000	Active TSS	Aorta	Aorta
47	chr14:45602800-45606000	Active TSS	Fetal Heart	heart
48	chr14:45602800-45606000	Active TSS	Fetal Intestine Small	intestine
49	chr14:45602800-45606000	Active TSS	Fetal Muscle Trunk	muscle
50	chr14:45602800-45606200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell

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