Variant report

Variant	rs73346345
Chromosome Location	chr14:45430903-45430904
allele	A/C/T
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	TCF12	chr14:45430425-45432032	A549	lung:	n/a	chr14:45430945-45430955
2	USF1	chr14:45430792-45431898	HCT-116	colon:	n/a	chr14:45431388-45431399
3	ETS1	chr14:45430745-45431782	A549	lung:	n/a	chr14:45431251-45431266 chr14:45431251-45431264 chr14:45431255-45431262
4	GATA3	chr14:45430523-45431640	A549	lung:	n/a	chr14:45430855-45430865 chr14:45430834-45430850
5	TCF7L2	chr14:45430692-45432170	Hela-S3	cervix:	n/a	n/a
6	YY1	chr14:45430749-45432025	GM12892	blood:	n/a	chr14:45431614-45431634 chr14:45431446-45431458
7	POLR2A	chr14:45430802-45431541	H1-hESC	embryonic stem cell:	n/a	n/a
8	TAL1	chr14:45430762-45431527	K562	blood:	n/a	chr14:45430844-45430853 chr14:45430944-45430953
9	ZNF384	chr14:45430304-45431755	K562	blood:	n/a	n/a
10	RELA	chr14:45430372-45432346	GM10847	blood:	n/a	n/a
11	POLR2A	chr14:45430446-45432040	NB4	blood:	n/a	n/a
12	POLR2A	chr14:45430716-45431732	PANC-1	pancreas:	n/a	n/a
13	POU2F2	chr14:45430766-45431411	GM12878	blood:	n/a	n/a
14	MAZ	chr14:45430344-45432085	K562	blood:	n/a	chr14:45431390-45431399 chr14:45431390-45431399 chr14:45431388-45431401 chr14:45431389-45431400 chr14:45431390-45431399
15	TCF12	chr14:45430732-45431698	ECC-1	luminal epithelium:	n/a	chr14:45430945-45430955
16	PAX5	chr14:45430835-45431785	GM12878	blood:	n/a	chr14:45431254-45431263
17	TCF12	chr14:45430796-45431566	GM12878	blood:	n/a	chr14:45430945-45430955
18	YY1	chr14:45430869-45431768	K562	blood:	n/a	chr14:45431614-45431634 chr14:45431446-45431458
19	RCOR1	chr14:45430197-45431776	Hela-S3	cervix:	n/a	n/a
20	FOXA1	chr14:45430794-45431518	T-47D	breast:	n/a	n/a
21	USF1	chr14:45430792-45431759	A549	lung:	n/a	chr14:45431388-45431399
22	STAT5A	chr14:45430661-45432241	GM12878	blood:	n/a	chr14:45431254-45431261
23	TBP	chr14:45430794-45431655	HepG2	liver:	n/a	n/a
24	ELF1	chr14:45430654-45432268	MCF-7	breast:	n/a	chr14:45431335-45431344 chr14:45431334-45431345 chr14:45431255-45431266
25	POLR2A	chr14:45430805-45431872	A549	lung:	n/a	n/a
26	ZNF384	chr14:45430501-45431522	GM12878	blood:	n/a	n/a
27	POLR2A	chr14:45430698-45432198	H1-hESC	embryonic stem cell:	n/a	n/a
28	GTF2F1	chr14:45430451-45431901	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr14:45430762-45431642	ECC-1	luminal epithelium:	n/a	n/a
30	POLR2A	chr14:45430285-45431920	GM12878	blood:	n/a	n/a
31	POLR2A	chr14:45430357-45432269	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr14:45430345-45431822	MCF10A-Er-Src	breast:	n/a	n/a
33	RCOR1	chr14:45430217-45431652	GM12878	blood:	n/a	n/a
34	FOXP2	chr14:45430811-45431555	SK-N-MC	brain:	n/a	n/a
35	EP300	chr14:45430809-45431566	HepG2	liver:	n/a	chr14:45431255-45431264 chr14:45431251-45431265
36	MAX	chr14:45430849-45431716	K562	blood:	n/a	chr14:45431390-45431399 chr14:45431390-45431399 chr14:45431388-45431401 chr14:45431389-45431400 chr14:45431390-45431399
37	POLR2A	chr14:45430876-45431706	HepG2	liver:	n/a	n/a
38	SIN3AK20	chr14:45430779-45431744	HepG2	liver:	n/a	n/a
39	ELK4	chr14:45430775-45431565	Hela-S3	cervix:	n/a	n/a
40	ELF1	chr14:45430679-45431766	HCT-116	colon:	n/a	chr14:45431335-45431344 chr14:45431334-45431345 chr14:45431255-45431266
41	MYBL2	chr14:45430707-45431562	HepG2	liver:	n/a	n/a
42	POLR2A	chr14:45430749-45431693	GM12891	blood:	n/a	n/a
43	MAX	chr14:45430306-45432020	A549	lung:	n/a	chr14:45431390-45431399 chr14:45431390-45431399 chr14:45431388-45431401 chr14:45431389-45431400 chr14:45431390-45431399
44	POLR2A	chr14:45430243-45431928	Hela-S3	cervix:	n/a	n/a
45	SRF	chr14:45430639-45431789	MCF-7	breast:	n/a	chr14:45431153-45431163
46	POLR2A	chr14:45430875-45431305	HCT-116	colon:	n/a	n/a
47	JUND	chr14:45430353-45431751	K562	blood:	n/a	n/a
48	POLR2A	chr14:45430107-45432327	IMR90	lung:	n/a	n/a
49	BHLHE40	chr14:45430861-45431649	HepG2	liver:	n/a	n/a
50	TAF1	chr14:45430701-45432135	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:45430537..45431179-chr15:78441265..78442106,2	Hela-S3	cervix:
2	chr14:45430704..45432872-chr14:45551768..45554827,3	K562	blood:
3	chr14:45429603..45434764-chr14:45555039..45559274,5	MCF-7	breast:
4	chr14:45429725..45432587-chr14:45720437..45723992,3	MCF-7	breast:
5	chr14:45429271..45433674-chr14:45463003..45467131,6	MCF-7	breast:
6	chr14:45430589..45431530-chr14:45603023..45604038,3	HCT-116	colon:
7	chr14:45429808..45433002-chr14:45552349..45555813,4	MCF-7	breast:
8	chr14:45430792..45431379-chr2:232573120..232573847,2	HCT-116	colon:
9	chr14:45428391..45434782-chr14:45601313..45606393,12	MCF-7	breast:
10	chr14:45380945..45382495-chr14:45429574..45431197,2	MCF-7	breast:
11	chr1:28562273..28562951-chr14:45430613..45431552,2	Hela-S3	cervix:
12	chr14:45428670..45431549-chr17:62221923..62224192,2	MCF-7	breast:
13	chr14:45429455..45434456-chr14:45457577..45465953,9	MCF-7	breast:
14	chr14:45430787..45433021-chr14:45551879..45555162,3	K562	blood:
15	chr14:45429027..45431300-chr14:45604077..45605830,2	K562	blood:
16	chr1:45205006..45205720-chr14:45430584..45431145,2	Hela-S3	cervix:
17	chr14:45428929..45435608-chr14:45601966..45608462,12	MCF-7	breast:
18	chr14:45430817..45431583-chr19:40336912..40337455,2	Hela-S3	cervix:

Variant related genes	Relation type
FAM179B	TF binding region
KLHL28	TF binding region
ENSG00000100442	Chromatin interaction
ENSG00000258949	Chromatin interaction
ENSG00000185246	Chromatin interaction
ENSG00000212615	Chromatin interaction
ENSG00000142945	Chromatin interaction
ENSG00000166411	Chromatin interaction
ENSG00000249163	Chromatin interaction
ENSG00000105202	Chromatin interaction
ENSG00000187514	Chromatin interaction
ENSG00000129534	Chromatin interaction
ENSG00000130770	Chromatin interaction
ENSG00000187790	Chromatin interaction
ENSG00000266402	Chromatin interaction
ENSG00000199753	Chromatin interaction
ENSG00000198718	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11848546	0.82[AFR][1000 genomes]
rs11850346	1.00[AFR][1000 genomes]
rs73346313	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73346327	0.85[AMR][1000 genomes]
rs73346329	0.85[AMR][1000 genomes]
rs73348279	1.00[AMR][1000 genomes]
rs73348288	0.85[AMR][1000 genomes]
rs73350114	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869289	chr14:44752382-45447415	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv1047886	chr14:45189653-45543182	Strong transcription Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv542079	chr14:45189653-45543182	Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	nsv1042585	chr14:45401506-45497907	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers 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	21 gene(s)	inside rSNPs	diseases
8	nsv1045869	chr14:45415597-45487903	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
9	nsv1259	chr14:45419323-45444660	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	20 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	chr14:45428400-45436600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr14:45428600-45432400	Active TSS	Muscle Satellite Cultured Cells	--
3	chr14:45428600-45433200	Active TSS	K562	blood
4	chr14:45428800-45433000	Active TSS	HMEC	breast
5	chr14:45428800-45443400	Active TSS	GM12878-XiMat	blood
6	chr14:45429000-45431400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr14:45429000-45432400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:45429000-45433000	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr14:45429000-45435000	Active TSS	NHLF	lung
10	chr14:45429000-45435200	Active TSS	Fetal Intestine Large	intestine
11	chr14:45429200-45432600	Active TSS	Psoas Muscle	Psoas
12	chr14:45429200-45432800	Active TSS	HUES64 Cell Line	embryonic stem cell
13	chr14:45429200-45432800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr14:45429200-45435000	Active TSS	NHDF-Ad	bronchial
15	chr14:45429200-45435200	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr14:45429200-45435200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr14:45429200-45435400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr14:45429200-45436800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr14:45429400-45431800	Active TSS	Primary T cells fromperipheralblood	blood
20	chr14:45429400-45432200	Active TSS	Fetal Muscle Leg	muscle
21	chr14:45429400-45432600	Active TSS	H1 Cell Line	embryonic stem cell
22	chr14:45429400-45432600	Active TSS	Fetal Intestine Small	intestine
23	chr14:45429400-45432800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr14:45429400-45432800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr14:45429400-45432800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr14:45429400-45433000	Active TSS	Aorta	Aorta
27	chr14:45429400-45433000	Active TSS	Ovary	ovary
28	chr14:45429400-45435000	Active TSS	A549	lung
29	chr14:45429400-45435200	Active TSS	Right Atrium	heart
30	chr14:45429600-45431600	Active TSS	Stomach Smooth Muscle	stomach
31	chr14:45429600-45432000	Active TSS	Hela-S3	cervix
32	chr14:45429600-45432200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr14:45429600-45432400	Active TSS	Brain Cingulate Gyrus	brain
34	chr14:45429600-45432600	Active TSS	Fetal Brain Female	brain
35	chr14:45429600-45432800	Active TSS	H9 Cell Line	embryonic stem cell
36	chr14:45429600-45432800	Active TSS	Left Ventricle	heart
37	chr14:45429600-45433800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr14:45429600-45434200	Active TSS	Fetal Muscle Trunk	muscle
39	chr14:45429600-45436200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr14:45429600-45437000	Active TSS	iPS-20b Cell Line	embryonic stem cell
41	chr14:45429600-45437400	Active TSS	Pancreatic Islets	Pancreatic Islet
42	chr14:45429800-45431600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr14:45429800-45432200	Active TSS	Brain Inferior Temporal Lobe	brain
44	chr14:45429800-45432400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr14:45429800-45432400	Active TSS	Rectal Smooth Muscle	rectum
46	chr14:45429800-45432600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr14:45429800-45432600	Active TSS	Brain Angular Gyrus	brain
48	chr14:45429800-45432600	Active TSS	NHEK	skin
49	chr14:45429800-45432800	Active TSS	iPS-18 Cell Line	embryonic stem cell
50	chr14:45429800-45432800	Active TSS	Fetal Stomach	stomach

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