Variant report

Variant	rs558654407
Chromosome Location	chr14:37131261-37131262
allele	C/G
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	MAZ	chr14:37130795-37131569	Hela-S3	cervix:	n/a	chr14:37131303-37131313
2	MYC	chr14:37130887-37131803	MCF10A-Er-Src	breast:	n/a	chr14:37131303-37131313
3	MAX	chr14:37130853-37131599	H1-hESC	embryonic stem cell:	n/a	chr14:37131303-37131313
4	JUND	chr14:37131010-37131457	A549	lung:	n/a	n/a
5	PML	chr14:37131022-37131314	K562	blood:	n/a	n/a
6	HEY1	chr14:37130846-37131638	K562	blood:	n/a	n/a
7	CHD2	chr14:37130838-37131268	H1-hESC	embryonic stem cell:	n/a	n/a
8	ELF1	chr14:37130578-37131568	MCF-7	breast:	n/a	n/a
9	STAT3	chr14:37130779-37131438	MCF10A-Er-Src	breast:	n/a	chr14:37130862-37130870 chr14:37131128-37131135
10	CHD1	chr14:37131141-37131328	H1-hESC	embryonic stem cell:	n/a	n/a
11	FOXA1	chr14:37131220-37131588	HepG2	liver:	n/a	n/a
12	SIN3AK20	chr14:37130484-37132555	MCF-7	breast:	n/a	n/a
13	ELF1	chr14:37130837-37131340	K562	blood:	n/a	n/a
14	SP1	chr14:37130700-37131466	HCT-116	colon:	n/a	chr14:37131009-37131016 chr14:37131003-37131015 chr14:37131003-37131015 chr14:37131004-37131013
15	GTF2F1	chr14:37130750-37131765	Hela-S3	cervix:	n/a	n/a
16	PBX3	chr14:37130735-37131333	A549	lung:	n/a	n/a
17	HCFC1	chr14:37130816-37131291	K562	blood:	n/a	n/a
18	RFX5	chr14:37130784-37131313	Hela-S3	cervix:	n/a	n/a
19	MAX	chr14:37130837-37131819	Hela-S3	cervix:	n/a	chr14:37131303-37131313
20	POLR2A	chr14:37130909-37131316	ECC-1	luminal epithelium:	n/a	n/a
21	SUZ12	chr14:37131119-37134255	NT2-D1	testis:	n/a	n/a
22	MAX	chr14:37130753-37131982	K562	blood:	n/a	chr14:37131901-37131911 chr14:37131303-37131313
23	MAX	chr14:37130815-37131679	ECC-1	luminal epithelium:	n/a	chr14:37131303-37131313
24	POLR2A	chr14:37130777-37131321	HCT-116	colon:	n/a	n/a
25	RCOR1	chr14:37131071-37131617	K562	blood:	n/a	n/a
26	POLR2A	chr14:37130734-37131750	SK-N-MC	brain:	n/a	n/a
27	POLR2A	chr14:37130786-37132365	MCF10A-Er-Src	breast:	n/a	n/a
28	POLR2A	chr14:37130952-37131350	ECC-1	luminal epithelium:	n/a	n/a
29	SRF	chr14:37130592-37131840	MCF-7	breast:	n/a	chr14:37131007-37131025
30	MYC	chr14:37130835-37131856	K562	blood:	n/a	chr14:37131303-37131313
31	TCF12	chr14:37130943-37131484	ECC-1	luminal epithelium:	n/a	n/a
32	TAF1	chr14:37130978-37131295	K562	blood:	n/a	n/a
33	GABPA	chr14:37130655-37131431	MCF-7	breast:	n/a	n/a
34	TBP	chr14:37130737-37131612	K562	blood:	n/a	n/a
35	PBX3	chr14:37130678-37131299	SK-N-SH	brain:	n/a	n/a
36	RCOR1	chr14:37130802-37131531	K562	blood:	n/a	n/a
37	MAX	chr14:37130724-37132399	A549	lung:	n/a	chr14:37131901-37131911 chr14:37131303-37131313
38	MAX	chr14:37130611-37132437	MCF-7	breast:	n/a	chr14:37131901-37131911 chr14:37131303-37131313
39	ZNF263	chr14:37130816-37133564	HEK293-T-REx	kidney:	n/a	chr14:37131161-37131170
40	E2F6	chr14:37131231-37131507	K562	blood:	n/a	chr14:37131381-37131395 chr14:37131305-37131314
41	ZNF143	chr14:37130792-37131285	K562	blood:	n/a	n/a
42	STAT3	chr14:37130732-37131405	MCF10A-Er-Src	breast:	n/a	chr14:37130862-37130870 chr14:37131128-37131135
43	KAP1	chr14:37130711-37131287	U2OS	brain:	n/a	n/a
44	TCF7L2	chr14:37130455-37131262	Hela-S3	cervix:	n/a	n/a
45	MAX	chr14:37130794-37131966	K562	blood:	n/a	chr14:37131901-37131911 chr14:37131303-37131313
46	PBX3	chr14:37130676-37131338	SK-N-SH	brain:	n/a	n/a
47	UBTF	chr14:37131075-37131275	K562	blood:	n/a	n/a
48	ZNF143	chr14:37130857-37131611	Hela-S3	cervix:	n/a	n/a
49	GABPA	chr14:37130689-37131561	MCF-7	breast:	n/a	n/a
50	YY1	chr14:37130996-37131337	H1-hESC	embryonic stem cell:	n/a	chr14:37131305-37131314

No.	Distal block	Cell Line	Cell type
1	chr14:37129932..37131787-chr14:37640970..37642806,2	MCF-7	breast:
2	chr14:37129600..37133163-chr14:37133957..37137315,6	K562	blood:
3	chr11:62554763..62556323-chr14:37131201..37132788,2	MCF-7	breast:
4	chr14:37123470..37126797-chr14:37128985..37133128,4	MCF-7	breast:
5	chr14:37126435..37129205-chr14:37130244..37132576,2	K562	blood:

Variant related genes	Relation type
PAX9	TF binding region
ENSG00000258661	TF binding region
ENSG00000183032	Chromatin interaction
ENSG00000258708	Chromatin interaction
ENSG00000185475	Chromatin interaction
ENSG00000198807	Chromatin interaction
ENSG00000258661	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040256	chr14:36501452-37172046	Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv542040	chr14:36501452-37172046	Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
3	nsv1047290	chr14:36564568-37445157	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases
4	nsv1037952	chr14:36670484-37294692	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	nsv542042	chr14:36670484-37294692	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
6	nsv1053685	chr14:36915643-37245920	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv917279	chr14:36953511-37146655	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv819585	chr14:37130627-37138654	Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:37123400-37132000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr14:37126200-37131400	Active TSS	Esophagus	oesophagus
3	chr14:37130000-37133800	Bivalent Enhancer	Liver	Liver
4	chr14:37130200-37131800	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
5	chr14:37130200-37132000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
6	chr14:37130400-37131800	Active TSS	K562	blood
7	chr14:37130400-37132200	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
8	chr14:37130400-37132400	Active TSS	A549	lung
9	chr14:37130400-37132600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
10	chr14:37130400-37132800	Bivalent Enhancer	Fetal Heart	heart
11	chr14:37130400-37133400	Bivalent/Poised TSS	Primary T cells from cord blood	blood
12	chr14:37130400-37133400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
13	chr14:37130400-37133600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
14	chr14:37130400-37133600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr14:37130600-37131400	Bivalent/Poised TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr14:37130600-37131400	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr14:37130600-37131400	Flanking Bivalent TSS/Enh	Right Ventricle	heart
18	chr14:37130600-37131600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
19	chr14:37130600-37131600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr14:37130600-37131600	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr14:37130600-37131600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr14:37130600-37131600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
23	chr14:37130600-37131600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr14:37130600-37131600	Active TSS	Pancreas	Pancrea
25	chr14:37130600-37131600	Bivalent/Poised TSS	HMEC	breast
26	chr14:37130600-37131600	Bivalent/Poised TSS	NHEK	skin
27	chr14:37130600-37131800	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
28	chr14:37130600-37131800	Bivalent/Poised TSS	Psoas Muscle	Psoas
29	chr14:37130600-37132000	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr14:37130600-37132000	Bivalent/Poised TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr14:37130600-37132000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
32	chr14:37130600-37132000	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr14:37130600-37132400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
34	chr14:37130600-37132800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr14:37130600-37132800	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
36	chr14:37130600-37132800	Active TSS	Hela-S3	cervix
37	chr14:37130600-37133000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
38	chr14:37130600-37133400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
39	chr14:37130600-37133600	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr14:37130600-37133600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr14:37130600-37133600	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
42	chr14:37130600-37133600	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
43	chr14:37130600-37133800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
44	chr14:37130800-37131400	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr14:37130800-37131400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
46	chr14:37130800-37131400	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
47	chr14:37130800-37131400	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
48	chr14:37130800-37131400	Flanking Bivalent TSS/Enh	Stomach Mucosa	stomach
49	chr14:37130800-37131600	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr14:37130800-37131600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell

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