Variant report

Variant	rs1958366
Chromosome Location	chr14:32671106-32671107
allele	A/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	SP1	chr14:32670278-32671453	A549	lung:	n/a	chr14:32670534-32670544 chr14:32670440-32670453 chr14:32670450-32670460 chr14:32670450-32670460 chr14:32670534-32670544
2	SMC3	chr14:32671061-32671354	HepG2	liver:	n/a	n/a
3	NFIC	chr14:32669857-32673593	HepG2	liver:	n/a	chr14:32670734-32670751
4	MAX	chr14:32669830-32671113	GM12878	blood:	n/a	n/a
5	ATF3	chr14:32670995-32671591	A549	lung:	n/a	n/a
6	MAX	chr14:32670160-32671597	ECC-1	luminal epithelium:	n/a	n/a
7	RAD21	chr14:32670160-32671226	HepG2	liver:	n/a	n/a
8	BHLHE40	chr14:32669994-32671863	HepG2	liver:	n/a	n/a
9	ELF1	chr14:32670218-32671304	HepG2	liver:	n/a	n/a
10	HCFC1	chr14:32670483-32671379	K562	blood:	n/a	n/a
11	CEBPD	chr14:32670375-32671305	HepG2	liver:	n/a	n/a
12	CHD2	chr14:32670261-32671844	HepG2	liver:	n/a	n/a
13	HNF4A	chr14:32670119-32671566	HepG2	liver:	n/a	chr14:32670144-32670157 chr14:32670144-32670156 chr14:32670143-32670157 chr14:32670141-32670159 chr14:32670806-32670821 chr14:32670144-32670156 chr14:32670143-32670157 chr14:32670706-32670718 chr14:32670143-32670156 chr14:32670144-32670156
14	ZNF143	chr14:32669700-32671377	GM12878	blood:	n/a	chr14:32671007-32671022 chr14:32671004-32671023
15	ZEB1	chr14:32669719-32673848	HepG2	liver:	n/a	n/a
16	USF1	chr14:32670802-32671129	SK-N-SH_RA	brain:	n/a	n/a
17	POU2F2	chr14:32670730-32671505	GM12891	blood:	n/a	chr14:32671027-32671041 chr14:32671029-32671039 chr14:32671026-32671039 chr14:32671026-32671041 chr14:32671027-32671039 chr14:32671028-32671038 chr14:32670831-32670843 chr14:32671029-32671038 chr14:32671027-32671040 chr14:32671030-32671037 chr14:32671028-32671038
18	TCF12	chr14:32670008-32673441	A549	lung:	n/a	n/a
19	KAP1	chr14:32670030-32673658	HEK293	kidney:	n/a	n/a
20	POLR2A	chr14:32670745-32671117	A549	lung:	n/a	n/a
21	NFIC	chr14:32670096-32671945	HepG2	liver:	n/a	chr14:32670734-32670751
22	POU2F2	chr14:32670944-32671140	GM12878	blood:	n/a	chr14:32671027-32671041 chr14:32671029-32671039 chr14:32671026-32671039 chr14:32671026-32671041 chr14:32671027-32671039 chr14:32671028-32671038 chr14:32671029-32671038 chr14:32671027-32671040 chr14:32671030-32671037 chr14:32671028-32671038
23	MAX	chr14:32669799-32673731	HepG2	liver:	n/a	chr14:32672740-32672750
24	BHLHE40	chr14:32670828-32671136	GM12878	blood:	n/a	n/a
25	RFX5	chr14:32670988-32671555	HepG2	liver:	n/a	n/a
26	TAF1	chr14:32670288-32671156	HepG2	liver:	n/a	n/a
27	CREB1	chr14:32669939-32673704	HepG2	liver:	n/a	n/a
28	BRF2	chr14:32671043-32671420	Hela-S3	cervix:	n/a	n/a
29	MAX	chr14:32670021-32671500	Hela-S3	cervix:	n/a	n/a
30	BRF2	chr14:32671023-32671417	K562	blood:	n/a	n/a
31	MAX	chr14:32670896-32671114	H1-hESC	embryonic stem cell:	n/a	n/a
32	SP1	chr14:32670236-32671550	A549	lung:	n/a	chr14:32670450-32670460 chr14:32670440-32670453 chr14:32670450-32670460 chr14:32670534-32670544 chr14:32670534-32670544
33	FOXA1	chr14:32670211-32671997	HepG2	liver:	n/a	n/a
34	MYC	chr14:32670175-32671390	K562	blood:	n/a	n/a
35	HEY1	chr14:32669934-32671610	HepG2	liver:	n/a	n/a
36	BHLHE40	chr14:32670560-32671261	K562	blood:	n/a	n/a
37	MXI1	chr14:32669911-32671203	Hela-S3	cervix:	n/a	n/a
38	SIN3AK20	chr14:32670234-32671329	HepG2	liver:	n/a	n/a
39	MAX	chr14:32670353-32671149	H1-hESC	embryonic stem cell:	n/a	n/a
40	HEY1	chr14:32669955-32671487	HepG2	liver:	n/a	n/a
41	ZBTB7A	chr14:32670583-32671175	K562	blood:	n/a	n/a
42	POU2F2	chr14:32670551-32671467	GM12891	blood:	n/a	chr14:32671027-32671041 chr14:32671029-32671039 chr14:32671026-32671039 chr14:32671026-32671041 chr14:32671027-32671039 chr14:32671028-32671038 chr14:32670831-32670843 chr14:32671029-32671038 chr14:32671027-32671040 chr14:32671030-32671037 chr14:32671028-32671038
43	EP300	chr14:32671017-32671438	GM12878	blood:	n/a	n/a
44	SIN3AK20	chr14:32670000-32671494	MCF-7	breast:	n/a	n/a
45	FOXA1	chr14:32670308-32671384	HepG2	liver:	n/a	n/a
46	POLR2A	chr14:32670292-32671603	HepG2	liver:	n/a	n/a
47	GATA2	chr14:32670370-32673426	SH-SY5Y	brain:	n/a	chr14:32672553-32672563 chr14:32671863-32671873
48	JUND	chr14:32670918-32671107	H1-hESC	embryonic stem cell:	n/a	n/a
49	MYC	chr14:32670913-32671132	MCF10A-Er-Src	breast:	n/a	n/a
50	JUND	chr14:32670244-32671308	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:32544618..32548147-chr14:32668083..32673759,9	K562	blood:
2	chr14:32544948..32548496-chr14:32669195..32673537,9	MCF-7	breast:
3	chr14:32544500..32547770-chr14:32669959..32673759,8	K562	blood:

Variant related genes	Relation type
RNU6-7	TF binding region
ENSG00000258655	Chromatin interaction
ENSG00000100852	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2149663	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6571497	0.81[EUR][1000 genomes]
rs8003362	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8005146	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832764	chr14:32564468-32723213	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	esv3527777	chr14:32669175-32761850	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	esv3527778	chr14:32669175-32761850	Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv826912	chr14:32670839-32671283	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:32669200-32672400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr14:32669400-32671600	Active TSS	A549	lung
3	chr14:32669400-32672400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
4	chr14:32669400-32673600	Flanking Active TSS	Primary hematopoietic stem cells	blood
5	chr14:32669600-32672400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr14:32669600-32673600	Flanking Active TSS	Primary B cells from cord blood	blood
7	chr14:32669600-32674000	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr14:32669800-32671200	Active TSS	Duodenum Mucosa	Duodenum
9	chr14:32669800-32671200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
10	chr14:32669800-32671400	Active TSS	Duodenum Smooth Muscle	Duodenum
11	chr14:32669800-32671400	Active TSS	Rectal Mucosa Donor 29	rectum
12	chr14:32669800-32671400	Active TSS	Hela-S3	cervix
13	chr14:32669800-32671400	Active TSS	K562	blood
14	chr14:32669800-32671600	Active TSS	Fetal Intestine Large	intestine
15	chr14:32669800-32671600	Active TSS	Fetal Thymus	thymus
16	chr14:32669800-32671800	Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr14:32669800-32672400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
18	chr14:32669800-32673400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
19	chr14:32669800-32673400	Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr14:32669800-32673400	Active TSS	Fetal Heart	heart
21	chr14:32669800-32673800	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr14:32669800-32673800	Active TSS	Brain Anterior Caudate	brain
23	chr14:32669800-32674000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr14:32670000-32671200	Active TSS	Colon Smooth Muscle	Colon
25	chr14:32670000-32671200	Active TSS	Fetal Brain Female	brain
26	chr14:32670000-32671200	Active TSS	Skeletal Muscle Male	skeletal muscle
27	chr14:32670000-32671200	Active TSS	Skeletal Muscle Female	skeletal muscle
28	chr14:32670000-32671400	Active TSS	iPS-20b Cell Line	embryonic stem cell
29	chr14:32670000-32671400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
30	chr14:32670000-32671400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr14:32670000-32671400	Active TSS	Fetal Stomach	stomach
32	chr14:32670000-32671400	Active TSS	Stomach Smooth Muscle	stomach
33	chr14:32670000-32671400	Bivalent/Poised TSS	HepG2	liver
34	chr14:32670000-32671600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr14:32670000-32671600	Active TSS	Fetal Intestine Small	intestine
36	chr14:32670000-32672000	Active TSS	NHLF	lung
37	chr14:32670000-32672200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
38	chr14:32670000-32672200	Flanking Active TSS	Adipose Nuclei	Adipose
39	chr14:32670000-32672200	Flanking Active TSS	Placenta	Placenta
40	chr14:32670000-32672400	Flanking Bivalent TSS/Enh	Dnd41	blood
41	chr14:32670000-32672400	Flanking Active TSS	HMEC	breast
42	chr14:32670000-32673200	Active TSS	Brain Cingulate Gyrus	brain
43	chr14:32670000-32673200	Active TSS	Thymus	Thymus
44	chr14:32670000-32673400	Active TSS	HUES6 Cell Line	embryonic stem cell
45	chr14:32670000-32673400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr14:32670000-32673400	Active TSS	Fetal Brain Male	brain
47	chr14:32670000-32673400	Active TSS	Fetal Kidney	kidney
48	chr14:32670000-32673400	Active TSS	Left Ventricle	heart
49	chr14:32670000-32673400	Active TSS	Psoas Muscle	Psoas
50	chr14:32670000-32673400	Active TSS	Right Ventricle	heart

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