Variant report

Variant	rs573721371
Chromosome Location	chr14:104024904-104024905
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NR3C1	chr14:104024690-104025082	ECC-1	luminal epithelium:	n/a	n/a
2	TEAD4	chr14:104024701-104025281	ECC-1	luminal epithelium:	n/a	n/a
3	POLR2A	chr14:104024362-104025275	K562	blood:	n/a	n/a
4	KAP1	chr14:104024597-104025287	U2OS	brain:	n/a	n/a
5	POLR2A	chr14:104024323-104025035	K562	blood:	n/a	n/a
6	TEAD4	chr14:104024562-104025330	ECC-1	luminal epithelium:	n/a	n/a
7	POLR2A	chr14:104024431-104025238	A549	lung:	n/a	n/a
8	TCF12	chr14:104024539-104025332	ECC-1	luminal epithelium:	n/a	n/a
9	POLR2A	chr14:104024597-104024912	K562	blood:	n/a	n/a
10	MAFK	chr14:104024636-104024970	K562	blood:	n/a	n/a
11	MAX	chr14:104024671-104025394	ECC-1	luminal epithelium:	n/a	n/a
12	POLR2A	chr14:104024405-104025022	HepG2	liver:	n/a	n/a
13	TCF12	chr14:104024725-104025329	ECC-1	luminal epithelium:	n/a	n/a
14	NR3C1	chr14:104024704-104025094	ECC-1	luminal epithelium:	n/a	n/a
15	CEBPB	chr14:104024563-104025234	ECC-1	luminal epithelium:	n/a	chr14:104024580-104024591
16	CEBPB	chr14:104024369-104024918	IMR90	lung:	n/a	chr14:104024580-104024591
17	MAX	chr14:104024739-104025297	ECC-1	luminal epithelium:	n/a	n/a
18	KAP1	chr14:104024634-104025267	HEK293	kidney:	n/a	n/a
19	EP300	chr14:104024644-104025359	ECC-1	luminal epithelium:	n/a	n/a
20	POLR2A	chr14:104024889-104025071	Hela-S3	cervix:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:103798179..103801931-chr14:104023610..104026874,4	MCF-7	breast:
2	chr14:104022338..104024927-chr14:104181805..104183745,2	MCF-7	breast:
3	chr14:104024628..104026145-chr14:104094504..104096844,2	K562	blood:
4	chr14:104018005..104022715-chr14:104023184..104028959,7	K562	blood:
5	chr14:104003474..104006501-chr14:104024765..104028078,3	MCF-7	breast:
6	chr14:104022023..104026446-chr14:104027134..104030443,10	MCF-7	breast:
7	chr14:104013318..104015138-chr14:104023392..104025223,2	MCF-7	breast:
8	chr14:104006138..104009668-chr14:104023103..104027300,4	K562	blood:

No data

Variant related genes	Relation type
KLC1	TF binding region
APOPT1	TF binding region
ENSG00000256500	TF binding region
ENSG00000126214	Chromatin interaction
ENSG00000166170	Chromatin interaction
ENSG00000256053	Chromatin interaction
ENSG00000259775	Chromatin interaction
ENSG00000258851	Chromatin interaction
ENSG00000100711	Chromatin interaction
ENSG00000126215	Chromatin interaction
ENSG00000100664	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3332028	chr14:103581471-104328811	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
2	nsv832883	chr14:103927687-104120953	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv902297	chr14:103956182-104061646	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv902298	chr14:103959289-104061646	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv902299	chr14:103967504-104061646	Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
6	nsv902300	chr14:103967504-104205811	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
7	nsv902303	chr14:103979953-104034746	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
8	nsv902304	chr14:103979953-104061646	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
9	nsv902305	chr14:103979953-104073551	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
10	esv1839595	chr14:103987140-104034746	Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
11	nsv566022	chr14:104007555-104092789	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
12	nsv976818	chr14:104023424-104029394	Genic enhancers Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 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	chr14:104010600-104025000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr14:104011400-104025000	Weak transcription	Ovary	ovary
3	chr14:104011400-104027800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:104013600-104027600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr14:104017400-104025800	Weak transcription	Fetal Brain Male	brain
6	chr14:104017600-104027200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr14:104018200-104026200	Weak transcription	Pancreas	Pancrea
8	chr14:104018200-104026400	Weak transcription	Small Intestine	intestine
9	chr14:104019000-104026800	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr14:104019200-104026200	Weak transcription	Aorta	Aorta
11	chr14:104019200-104027600	Weak transcription	Colonic Mucosa	Colon
12	chr14:104019400-104025000	Weak transcription	A549	lung
13	chr14:104019400-104026200	Weak transcription	Esophagus	oesophagus
14	chr14:104019800-104025000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr14:104019800-104027600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr14:104020800-104026800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr14:104021800-104027400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr14:104022600-104025000	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr14:104022600-104027000	Weak transcription	Fetal Heart	heart
20	chr14:104023000-104026600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr14:104023000-104026800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
22	chr14:104023200-104025000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr14:104023200-104025000	Enhancers	Adipose Nuclei	Adipose
24	chr14:104023200-104025200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr14:104023200-104025400	Enhancers	HSMMtube	muscle
26	chr14:104023200-104026200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr14:104023200-104026200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr14:104023200-104027600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr14:104023400-104025200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr14:104023400-104025200	Genic enhancers	Fetal Muscle Leg	muscle
31	chr14:104023400-104026000	Strong transcription	Duodenum Mucosa	Duodenum
32	chr14:104023400-104026200	Genic enhancers	Osteobl	bone
33	chr14:104023400-104026800	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr14:104023400-104026800	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr14:104023400-104026800	Strong transcription	HUVEC	blood vessel
36	chr14:104023400-104027000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr14:104023400-104027000	Strong transcription	Primary B cells from cord blood	blood
38	chr14:104023400-104027000	Genic enhancers	Placenta	Placenta
39	chr14:104023400-104027200	Genic enhancers	Primary T helper cells PMA-I stimulated	--
40	chr14:104023400-104027200	Strong transcription	Fetal Thymus	thymus
41	chr14:104023400-104027200	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr14:104023600-104025000	Enhancers	NHLF	lung
43	chr14:104023600-104025200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr14:104023600-104025200	Enhancers	Gastric	stomach
45	chr14:104023600-104025200	Enhancers	Psoas Muscle	Psoas
46	chr14:104023600-104025400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr14:104023600-104025400	Genic enhancers	Spleen	Spleen
48	chr14:104023600-104026400	Strong transcription	Sigmoid Colon	Sigmoid Colon
49	chr14:104023600-104027200	Strong transcription	HUES48 Cell Line	embryonic stem cell
50	chr14:104023600-104027400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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