Variant report

Variant	rs121917720
Chromosome Location	chr14:37132236-37132237
allele	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	RAD21	chr14:37132212-37132632	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr14:37132120-37132270	MCF-7	breast:	n/a	n/a
3	SIN3AK20	chr14:37130484-37132555	MCF-7	breast:	n/a	n/a
4	SIN3A	chr14:37132193-37133147	H1-hESC	embryonic stem cell:	n/a	n/a
5	MYC	chr14:37131963-37132333	MCF-7	breast:	n/a	n/a
6	POLR2A	chr14:37131702-37132774	MCF-7	breast:	n/a	n/a
7	SUZ12	chr14:37131119-37134255	NT2-D1	testis:	n/a	n/a
8	POLR2A	chr14:37132012-37132876	H1-neurons	neurons:	n/a	n/a
9	POLR2A	chr14:37130786-37132365	MCF10A-Er-Src	breast:	n/a	n/a
10	MAX	chr14:37130724-37132399	A549	lung:	n/a	chr14:37131901-37131911 chr14:37131303-37131313
11	HMGN3	chr14:37131867-37132626	K562	blood:	n/a	n/a
12	GATA3	chr14:37131991-37132435	T-47D	breast:	n/a	n/a
13	POLR2A	chr14:37131800-37132773	MCF-7	breast:	n/a	n/a
14	MAX	chr14:37130611-37132437	MCF-7	breast:	n/a	chr14:37131901-37131911 chr14:37131303-37131313
15	ZNF263	chr14:37130816-37133564	HEK293-T-REx	kidney:	n/a	chr14:37131161-37131170
16	CTCF	chr14:37132200-37132350	BJ	skin:	n/a	n/a
17	MYC	chr14:37131934-37132585	MCF-7	breast:	n/a	n/a
18	POLR2A	chr14:37130800-37132493	MCF10A-Er-Src	breast:	n/a	n/a
19	SUZ12	chr14:37131084-37133709	H1-hESC	embryonic stem cell:	n/a	n/a
20	HA-E2F1	chr14:37130625-37132391	MCF-7	breast:	n/a	chr14:37131381-37131395 chr14:37131305-37131314
21	CTBP2	chr14:37129970-37133601	H1-hESC	embryonic stem cell:	n/a	n/a
22	CREB1	chr14:37132092-37132291	A549	lung:	n/a	n/a
23	GATA3	chr14:37131980-37132420	T-47D	breast:	n/a	n/a
24	PAX5	chr14:37132084-37132382	GM12878	blood:	n/a	n/a
25	MAX	chr14:37132042-37133212	H1-hESC	embryonic stem cell:	n/a	n/a
26	FOXA1	chr14:37131983-37132325	T-47D	breast:	n/a	n/a
27	MYC	chr14:37132099-37132287	MCF10A-Er-Src	breast:	n/a	n/a
28	CTCF	chr14:37132220-37132370	BJ	skin:	n/a	n/a
29	MYC	chr14:37132178-37132268	MCF-7	breast:	n/a	n/a
30	MYC	chr14:37132021-37132316	MCF10A-Er-Src	breast:	n/a	n/a
31	MAX	chr14:37130796-37132318	A549	lung:	n/a	chr14:37131901-37131911 chr14:37131303-37131313
32	CTCF	chr14:37131947-37132280	MCF-7	breast:	n/a	n/a
33	POLR2A	chr14:37131867-37132789	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:37131975..37134895-chr14:37181236..37183653,2	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
ENSG00000198807	Chromatin interaction
ENSG00000258661	Chromatin interaction
ENSG00000185475	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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	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
9	nsv498084	chr14:37131404-37141112	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:37130000-37133800	Bivalent Enhancer	Liver	Liver
2	chr14:37130400-37132400	Active TSS	A549	lung
3	chr14:37130400-37132600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
4	chr14:37130400-37132800	Bivalent Enhancer	Fetal Heart	heart
5	chr14:37130400-37133400	Bivalent/Poised TSS	Primary T cells from cord blood	blood
6	chr14:37130400-37133400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
7	chr14:37130400-37133600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
8	chr14:37130400-37133600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr14:37130600-37132400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
10	chr14:37130600-37132800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr14:37130600-37132800	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
12	chr14:37130600-37132800	Active TSS	Hela-S3	cervix
13	chr14:37130600-37133000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
14	chr14:37130600-37133400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
15	chr14:37130600-37133600	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr14:37130600-37133600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr14:37130600-37133600	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
18	chr14:37130600-37133600	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
19	chr14:37130600-37133800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
20	chr14:37130800-37132600	Active TSS	NHDF-Ad	bronchial
21	chr14:37130800-37133200	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr14:37130800-37133200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
23	chr14:37130800-37133400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
24	chr14:37131000-37132800	Bivalent Enhancer	Fetal Brain Male	brain
25	chr14:37131000-37133200	Bivalent Enhancer	Spleen	Spleen
26	chr14:37131000-37133400	Bivalent/Poised TSS	HSMM	muscle
27	chr14:37131000-37135600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
28	chr14:37131000-37137200	Bivalent/Poised TSS	Thymus	Thymus
29	chr14:37131200-37132400	Bivalent Enhancer	Primary hematopoietic stem cells	blood
30	chr14:37131200-37132600	Bivalent Enhancer	Small Intestine	intestine
31	chr14:37131200-37132600	Bivalent/Poised TSS	NH-A	brain
32	chr14:37131200-37133200	Bivalent Enhancer	Left Ventricle	heart
33	chr14:37131200-37133400	Bivalent Enhancer	Fetal Intestine Large	intestine
34	chr14:37131200-37133600	Bivalent Enhancer	Fetal Lung	lung
35	chr14:37131200-37134000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
36	chr14:37131400-37132400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
37	chr14:37131400-37132400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr14:37131400-37132400	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
39	chr14:37131400-37132600	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr14:37131400-37132600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr14:37131400-37132800	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
42	chr14:37131400-37132800	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
43	chr14:37131400-37132800	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
44	chr14:37131400-37133000	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
45	chr14:37131400-37133200	Bivalent Enhancer	Placenta	Placenta
46	chr14:37131400-37133400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr14:37131400-37133400	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
48	chr14:37131400-37133400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
49	chr14:37131400-37133400	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr14:37131400-37133600	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach

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