Variant report

Variant	rs571244070
Chromosome Location	chr14:37131055-37131056
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	MAZ	chr14:37130795-37131569	Hela-S3	cervix:	n/a	chr14:37131303-37131313
2	POLR2A	chr14:37130976-37131145	A549	lung:	n/a	n/a
3	MYC	chr14:37130887-37131803	MCF10A-Er-Src	breast:	n/a	chr14:37131303-37131313
4	MAX	chr14:37130853-37131599	H1-hESC	embryonic stem cell:	n/a	chr14:37131303-37131313
5	JUND	chr14:37130784-37131243	H1-hESC	embryonic stem cell:	n/a	chr14:37130896-37130906 chr14:37130896-37130906
6	SP2	chr14:37130819-37131176	H1-hESC	embryonic stem cell:	n/a	chr14:37131006-37131015 chr14:37131003-37131018
7	JUND	chr14:37131010-37131457	A549	lung:	n/a	n/a
8	MYC	chr14:37131053-37131064	MCF-7	breast:	n/a	n/a
9	PML	chr14:37131022-37131314	K562	blood:	n/a	n/a
10	HEY1	chr14:37130846-37131638	K562	blood:	n/a	n/a
11	CHD2	chr14:37130838-37131268	H1-hESC	embryonic stem cell:	n/a	n/a
12	ELF1	chr14:37130578-37131568	MCF-7	breast:	n/a	n/a
13	STAT3	chr14:37130779-37131438	MCF10A-Er-Src	breast:	n/a	chr14:37130862-37130870 chr14:37131128-37131135
14	FOS	chr14:37130885-37131089	MCF10A-Er-Src	breast:	n/a	chr14:37130896-37130906 chr14:37130896-37130906
15	SP2	chr14:37130869-37131097	K562	blood:	n/a	chr14:37131006-37131015 chr14:37131003-37131018
16	POLR2A	chr14:37131013-37131123	A549	lung:	n/a	n/a
17	MAX	chr14:37130534-37131190	H1-hESC	embryonic stem cell:	n/a	n/a
18	SIN3AK20	chr14:37130484-37132555	MCF-7	breast:	n/a	n/a
19	ELF1	chr14:37130837-37131340	K562	blood:	n/a	n/a
20	SP1	chr14:37130700-37131466	HCT-116	colon:	n/a	chr14:37131009-37131016 chr14:37131003-37131015 chr14:37131003-37131015 chr14:37131004-37131013
21	GTF2F1	chr14:37130750-37131765	Hela-S3	cervix:	n/a	n/a
22	PBX3	chr14:37130735-37131333	A549	lung:	n/a	n/a
23	CEBPB	chr14:37130984-37131165	K562	blood:	n/a	n/a
24	HCFC1	chr14:37130816-37131291	K562	blood:	n/a	n/a
25	RFX5	chr14:37130784-37131313	Hela-S3	cervix:	n/a	n/a
26	MAX	chr14:37130837-37131819	Hela-S3	cervix:	n/a	chr14:37131303-37131313
27	FOS	chr14:37130861-37131092	MCF10A-Er-Src	breast:	n/a	chr14:37130896-37130906 chr14:37130896-37130906
28	POLR2A	chr14:37130909-37131316	ECC-1	luminal epithelium:	n/a	n/a
29	PBX3	chr14:37130832-37131131	GM12878	blood:	n/a	n/a
30	MAX	chr14:37130753-37131982	K562	blood:	n/a	chr14:37131901-37131911 chr14:37131303-37131313
31	FOS	chr14:37130842-37131148	MCF10A-Er-Src	breast:	n/a	chr14:37130896-37130906 chr14:37130896-37130906
32	MAX	chr14:37130815-37131679	ECC-1	luminal epithelium:	n/a	chr14:37131303-37131313
33	NFYB	chr14:37130545-37131234	K562	blood:	n/a	chr14:37130971-37130986
34	POLR2A	chr14:37130777-37131321	HCT-116	colon:	n/a	n/a
35	SP1	chr14:37130784-37131188	HepG2	liver:	n/a	chr14:37131009-37131016 chr14:37131003-37131015 chr14:37131003-37131015 chr14:37131004-37131013
36	POLR2A	chr14:37130734-37131750	SK-N-MC	brain:	n/a	n/a
37	POLR2A	chr14:37130786-37132365	MCF10A-Er-Src	breast:	n/a	n/a
38	POLR2A	chr14:37130952-37131350	ECC-1	luminal epithelium:	n/a	n/a
39	SRF	chr14:37130592-37131840	MCF-7	breast:	n/a	chr14:37131007-37131025
40	MYC	chr14:37130835-37131856	K562	blood:	n/a	chr14:37131303-37131313
41	NFYA	chr14:37130816-37131178	Hela-S3	cervix:	n/a	chr14:37130974-37130992
42	TCF12	chr14:37130943-37131484	ECC-1	luminal epithelium:	n/a	n/a
43	TCF12	chr14:37130994-37131244	H1-hESC	embryonic stem cell:	n/a	n/a
44	MAFK	chr14:37130759-37131241	K562	blood:	n/a	chr14:37130818-37130829 chr14:37130809-37130829 chr14:37130818-37130829 chr14:37130814-37130829 chr14:37130811-37130827
45	ZKSCAN1	chr14:37130848-37131243	Hela-S3	cervix:	n/a	chr14:37130914-37130927
46	TAF1	chr14:37130978-37131295	K562	blood:	n/a	n/a
47	ARID3A	chr14:37130950-37131245	K562	blood:	n/a	n/a
48	GABPA	chr14:37130655-37131431	MCF-7	breast:	n/a	n/a
49	TBP	chr14:37130737-37131612	K562	blood:	n/a	n/a
50	PBX3	chr14:37130678-37131299	SK-N-SH	brain:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:37131008-37131058	HPAEpiC	pulmonary alveolar:	n/a
2	chr14:37131008-37131058	BE2_C	brain:	n/a
3	chr14:37131008-37131058	T-47D	breast:	n/a
4	chr14:37131008-37131058	SAEC	small airway:	n/a
5	chr14:37131008-37131058	U87	brain:	n/a
6	chr14:37131008-37131058	HEEpiC	esophagus:	n/a
7	chr14:37131008-37131058	AG09309	skin:	n/a
8	chr14:37131008-37131058	NT2-D1	testis:	n/a
9	chr14:37131008-37131058	AG04449	skin:	fetal
10	chr14:37131008-37131058	HNPCEpiC	eye:	n/a
11	chr14:37131008-37131058	HL-60	blood:	n/a
12	chr14:37131008-37131058	HRE	kidney:	n/a
13	chr14:37131008-37131058	HCM	heart:	n/a
14	chr14:37131008-37131058	HCPEpiC	choroid plexus:	n/a
15	chr14:37131008-37131058	RPTEC	kidney:	n/a
16	chr14:37131008-37131058	Jurkat	blood:	n/a
17	chr14:37131008-37131058	HRPEpiC	eye:	n/a
18	chr14:37131008-37131058	HepG2	liver:	n/a
19	chr14:37131008-37131058	HCF	heart:	n/a
20	chr14:37131008-37131058	AG04450	lung:	fetal
21	chr14:37131008-37131058	NHDF-neo	bronchial:	n/a
22	chr14:37131008-37131058	NB4	blood:	n/a
23	chr14:37131008-37131058	H1-hESC	embryonic stem cell:	embryo
24	chr14:37131008-37131058	IMR90	lung:	fetal
25	chr14:37131008-37131058	NH-A	brain:	n/a
26	chr14:37131008-37131058	Hepatocyte	liver:	n/a
27	chr14:37131008-37131058	GM12878	blood:	n/a
28	chr14:37131008-37131058	HMEC	breast:	n/a
29	chr14:37131008-37131058	ECC-1	luminal epithelium:	n/a
30	chr14:37131008-37131058	MCF-7	breast:	n/a
31	chr14:37131008-37131058	GM19239	blood:	n/a
32	chr14:37131008-37131058	HEK293	kidney:	embryo
33	chr14:37131008-37131058	AG09319	gingival:	n/a
34	chr14:37131008-37131058	K562	blood:	n/a
35	chr14:37131008-37131058	A549	lung:	n/a
36	chr14:37131008-37131058	HUVEC	blood vessel:	n/a
37	chr14:37131008-37131058	PANC-1	pancreas:	n/a
38	chr14:37131008-37131058	HAEpiC	amniotic membrane:	n/a
39	chr14:37131008-37131058	PrEC	prostate:	n/a
40	chr14:37131008-37131058	AoSMC	blood vessel:	n/a
41	chr14:37131008-37131058	LNCaP	prostate:	n/a
42	chr14:37131008-37131058	ProgFib	skin:	n/a
43	chr14:37131008-37131058	CMK	blood:	n/a
44	chr14:37131008-37131058	AG10803	skin:	n/a
45	chr14:37131008-37131058	SK-N-SH	brain:	n/a
46	chr14:37131008-37131058	HCT-116	colon:	n/a
47	chr14:37131008-37131058	Caco-2	colon:	n/a
48	chr14:37131008-37131058	GM12892	blood:	n/a
49	chr14:37131008-37131058	HIPEpiC	eye:	n/a
50	chr14:37131008-37131058	SK-N-SH_RA	brain:	n/a

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	chr14:37123470..37126797-chr14:37128985..37133128,4	MCF-7	breast:
4	chr14:37126435..37129205-chr14:37130244..37132576,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PAX9-6	chr14:37130902-37131213	NONHSAT036445

Variant related genes	Relation type
ENSG00000258661	TF binding region
PAX9	TF binding region
PAX9	CpG island
ENSG00000258661	CpG island
ENSG00000258661	Chromatin interaction
ENSG00000258708	Chromatin interaction
ENSG00000198807	Chromatin interaction
ENSG00000183032	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:112 , 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	chr14:37130200-37131200	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
5	chr14:37130200-37131200	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
6	chr14:37130200-37131800	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
7	chr14:37130200-37132000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
8	chr14:37130400-37131200	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 31	rectum
9	chr14:37130400-37131800	Active TSS	K562	blood
10	chr14:37130400-37132200	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
11	chr14:37130400-37132400	Active TSS	A549	lung
12	chr14:37130400-37132600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
13	chr14:37130400-37132800	Bivalent Enhancer	Fetal Heart	heart
14	chr14:37130400-37133400	Bivalent/Poised TSS	Primary T cells from cord blood	blood
15	chr14:37130400-37133400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
16	chr14:37130400-37133600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
17	chr14:37130400-37133600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr14:37130600-37131200	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
19	chr14:37130600-37131200	Bivalent/Poised TSS	Colonic Mucosa	Colon
20	chr14:37130600-37131200	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
21	chr14:37130600-37131200	Flanking Active TSS	Right Atrium	heart
22	chr14:37130600-37131200	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
23	chr14:37130600-37131200	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
24	chr14:37130600-37131200	Flanking Bivalent TSS/Enh	NH-A	brain
25	chr14:37130600-37131400	Bivalent/Poised TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr14:37130600-37131400	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr14:37130600-37131400	Flanking Bivalent TSS/Enh	Right Ventricle	heart
28	chr14:37130600-37131600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
29	chr14:37130600-37131600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr14:37130600-37131600	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr14:37130600-37131600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr14:37130600-37131600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
33	chr14:37130600-37131600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr14:37130600-37131600	Active TSS	Pancreas	Pancrea
35	chr14:37130600-37131600	Bivalent/Poised TSS	HMEC	breast
36	chr14:37130600-37131600	Bivalent/Poised TSS	NHEK	skin
37	chr14:37130600-37131800	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
38	chr14:37130600-37131800	Bivalent/Poised TSS	Psoas Muscle	Psoas
39	chr14:37130600-37132000	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr14:37130600-37132000	Bivalent/Poised TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr14:37130600-37132000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
42	chr14:37130600-37132000	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr14:37130600-37132400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
44	chr14:37130600-37132800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr14:37130600-37132800	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
46	chr14:37130600-37132800	Active TSS	Hela-S3	cervix
47	chr14:37130600-37133000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
48	chr14:37130600-37133400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
49	chr14:37130600-37133600	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr14:37130600-37133600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin

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