Variant report

Variant	rs571133009
Chromosome Location	chr14:104024451-104024452
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:104024362-104025275	K562	blood:	n/a	n/a
2	POLR2A	chr14:104024323-104025035	K562	blood:	n/a	n/a
3	POLR2A	chr14:104024431-104025238	A549	lung:	n/a	n/a
4	POLR2A	chr14:104024352-104024516	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr14:104024405-104025022	HepG2	liver:	n/a	n/a
6	CEBPB	chr14:104024451-104024760	A549	lung:	n/a	chr14:104024580-104024591
7	POLR2A	chr14:104024309-104024606	GM12891	blood:	n/a	n/a
8	POLR2A	chr14:104024330-104024705	GM12878	blood:	n/a	n/a
9	CEBPB	chr14:104024369-104024918	IMR90	lung:	n/a	chr14:104024580-104024591
10	POLR2A	chr14:104024305-104024573	GM12891	blood:	n/a	n/a
11	POLR2A	chr14:104024311-104024873	GM12878	blood:	n/a	n/a
12	POLR2A	chr14:104024347-104024889	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr14:104024323-104024530	K562	blood:	n/a	n/a
14	POLR2A	chr14:104024295-104024726	GM12891	blood:	n/a	n/a
15	POLR2A	chr14:104024383-104024546	Hela-S3	cervix:	n/a	n/a

No data

(count:6 , 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	chr14:104018005..104022715-chr14:104023184..104028959,7	K562	blood:
4	chr14:104022023..104026446-chr14:104027134..104030443,10	MCF-7	breast:
5	chr14:104013318..104015138-chr14:104023392..104025223,2	MCF-7	breast:
6	chr14:104006138..104009668-chr14:104023103..104027300,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000256500	TF binding region
APOPT1	TF binding region
KLC1	TF binding region
ENSG00000100664	Chromatin interaction
ENSG00000259775	Chromatin interaction
ENSG00000256053	Chromatin interaction
ENSG00000100711	Chromatin interaction
ENSG00000126215	Chromatin interaction
ENSG00000258851	Chromatin interaction
ENSG00000166170	Chromatin interaction
ENSG00000126214	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	chr14:104013200-104024600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr14:104013600-104027600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr14:104013800-104024600	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr14:104017400-104024800	Weak transcription	GM12878-XiMat	blood
8	chr14:104017400-104025800	Weak transcription	Fetal Brain Male	brain
9	chr14:104017600-104027200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr14:104017800-104024800	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr14:104018200-104026200	Weak transcription	Pancreas	Pancrea
12	chr14:104018200-104026400	Weak transcription	Small Intestine	intestine
13	chr14:104019000-104026800	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr14:104019200-104024800	Weak transcription	Hela-S3	cervix
15	chr14:104019200-104026200	Weak transcription	Aorta	Aorta
16	chr14:104019200-104027600	Weak transcription	Colonic Mucosa	Colon
17	chr14:104019400-104025000	Weak transcription	A549	lung
18	chr14:104019400-104026200	Weak transcription	Esophagus	oesophagus
19	chr14:104019600-104024600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr14:104019800-104024600	Weak transcription	HMEC	breast
21	chr14:104019800-104025000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr14:104019800-104027600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr14:104020000-104024800	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr14:104020800-104026800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr14:104021000-104024800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr14:104021600-104024800	Weak transcription	Stomach Mucosa	stomach
27	chr14:104021800-104027400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr14:104022400-104024600	Weak transcription	Thymus	Thymus
29	chr14:104022600-104024800	Weak transcription	K562	blood
30	chr14:104022600-104025000	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr14:104022600-104027000	Weak transcription	Fetal Heart	heart
32	chr14:104023000-104026600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr14:104023000-104026800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
34	chr14:104023200-104024600	Enhancers	Rectal Smooth Muscle	rectum
35	chr14:104023200-104024600	Strong transcription	NH-A	brain
36	chr14:104023200-104024800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr14:104023200-104024800	Enhancers	Brain Anterior Caudate	brain
38	chr14:104023200-104024800	Enhancers	Left Ventricle	heart
39	chr14:104023200-104025000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr14:104023200-104025000	Enhancers	Adipose Nuclei	Adipose
41	chr14:104023200-104025200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr14:104023200-104025400	Enhancers	HSMMtube	muscle
43	chr14:104023200-104026200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr14:104023200-104026200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr14:104023200-104027600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr14:104023400-104024800	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr14:104023400-104025200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr14:104023400-104025200	Genic enhancers	Fetal Muscle Leg	muscle
49	chr14:104023400-104026000	Strong transcription	Duodenum Mucosa	Duodenum
50	chr14:104023400-104026200	Genic enhancers	Osteobl	bone

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