Variant report

Variant	rs73291583
Chromosome Location	chr14:39644195-39644196
allele	G/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	CHD2	chr14:39643769-39645117	Hela-S3	cervix:	n/a	chr14:39644663-39644673
2	TCF3	chr14:39644133-39644610	GM12878	blood:	n/a	n/a
3	MAZ	chr14:39643825-39645302	GM12878	blood:	n/a	chr14:39644996-39645003
4	PBX3	chr14:39644028-39644667	SK-N-SH	brain:	n/a	chr14:39644301-39644310 chr14:39644402-39644411
5	POU2F2	chr14:39644074-39644784	GM12891	blood:	n/a	n/a
6	CEBPB	chr14:39643903-39644550	ECC-1	luminal epithelium:	n/a	chr14:39644385-39644393 chr14:39644212-39644223 chr14:39644302-39644310
7	CEBPB	chr14:39643849-39644667	A549	lung:	n/a	chr14:39644385-39644393 chr14:39644212-39644223 chr14:39644302-39644310
8	POLR2A	chr14:39643869-39645235	H1-neurons	neurons:	n/a	n/a
9	CREB1	chr14:39643895-39644693	K562	blood:	n/a	n/a
10	WRNIP1	chr14:39643371-39645398	GM12878	blood:	n/a	n/a
11	BATF	chr14:39644105-39644489	GM12878	blood:	n/a	n/a
12	POLR2A	chr14:39643915-39644702	U87	brain:	n/a	n/a
13	TAF1	chr14:39644089-39644770	GM12891	blood:	n/a	n/a
14	SIN3AK20	chr14:39644052-39644554	SK-N-SH	brain:	n/a	n/a
15	EP300	chr14:39643959-39644561	T-47D	breast:	n/a	chr14:39644123-39644131
16	TAF1	chr14:39644104-39644720	GM12878	blood:	n/a	n/a
17	POLR2A	chr14:39643918-39645308	IMR90	lung:	n/a	n/a
18	REST	chr14:39643618-39645414	HepG2	liver:	n/a	chr14:39644625-39644638
19	IRF4	chr14:39644023-39644447	GM12878	blood:	n/a	n/a
20	CEBPB	chr14:39643853-39644686	MCF-7	breast:	n/a	chr14:39644385-39644393 chr14:39644212-39644223 chr14:39644302-39644310
21	YY1	chr14:39644191-39644739	K562	blood:	n/a	chr14:39644662-39644671 chr14:39644423-39644432 chr14:39644666-39644680 chr14:39644473-39644493
22	HSF1	chr14:39643931-39645159	HepG2	liver:	n/a	n/a
23	TCF7L2	chr14:39643929-39645153	Hela-S3	cervix:	n/a	n/a
24	PAX5	chr14:39644030-39644637	GM12878	blood:	n/a	n/a
25	JUND	chr14:39644099-39644611	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr14:39643127-39645394	K562	blood:	n/a	n/a
27	YY1	chr14:39643907-39645165	SK-N-SH	brain:	n/a	chr14:39644662-39644671 chr14:39644423-39644432 chr14:39644666-39644680 chr14:39644473-39644493 chr14:39644814-39644828
28	POLR2A	chr14:39643326-39645159	Hela-S3	cervix:	n/a	n/a
29	SP1	chr14:39643950-39644630	H1-hESC	embryonic stem cell:	n/a	chr14:39644374-39644395 chr14:39644270-39644281 chr14:39644331-39644345 chr14:39644291-39644312
30	ELF1	chr14:39643986-39644623	K562	blood:	n/a	n/a
31	EP300	chr14:39643872-39645078	ECC-1	luminal epithelium:	n/a	chr14:39644123-39644131
32	TAF1	chr14:39644049-39644716	GM12891	blood:	n/a	n/a
33	ELF1	chr14:39643926-39645160	GM12878	blood:	n/a	chr14:39645101-39645112
34	CEBPB	chr14:39643922-39644578	A549	lung:	n/a	chr14:39644385-39644393 chr14:39644212-39644223 chr14:39644302-39644310
35	TEAD4	chr14:39643860-39644593	K562	blood:	n/a	n/a
36	BHLHE40	chr14:39643229-39644631	K562	blood:	n/a	n/a
37	EP300	chr14:39643964-39644611	H1-hESC	embryonic stem cell:	n/a	chr14:39644123-39644131
38	EP300	chr14:39643449-39645212	GM12878	blood:	n/a	chr14:39644123-39644131 chr14:39643623-39643637 chr14:39645102-39645116
39	TAF1	chr14:39643985-39644682	SK-N-SH	brain:	n/a	n/a
40	BHLHE40	chr14:39643933-39644508	A549	lung:	n/a	n/a
41	POLR2A	chr14:39643919-39645402	HepG2	liver:	n/a	n/a
42	GTF2B	chr14:39644120-39644605	K562	blood:	n/a	n/a
43	USF1	chr14:39644172-39644358	SK-N-SH_RA	brain:	n/a	n/a
44	NR2F2	chr14:39643797-39644605	K562	blood:	n/a	n/a
45	YY1	chr14:39644157-39645122	A549	lung:	n/a	chr14:39644662-39644671 chr14:39644423-39644432 chr14:39644666-39644680 chr14:39644473-39644493 chr14:39644814-39644828
46	KAP1	chr14:39643585-39644699	HEK293	kidney:	n/a	n/a
47	PBX3	chr14:39644078-39644710	A549	lung:	n/a	chr14:39644301-39644310 chr14:39644402-39644411
48	STAT3	chr14:39644109-39644486	MCF10A-Er-Src	breast:	n/a	n/a
49	SMARCC2	chr14:39644038-39644488	Hela-S3	cervix:	n/a	n/a
50	SP2	chr14:39644158-39644494	K562	blood:	n/a	chr14:39644300-39644310 chr14:39644330-39644345

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:39644158-39644208	Jurkat	blood:	n/a
2	chr14:39644158-39644208	K562	blood:	n/a
3	chr14:39644186-39644236	Jurkat	blood:	n/a
4	chr14:39644156-39644206	SK-N-MC	brain:	n/a
5	chr14:39644156-39644206	GM12878	blood:	n/a
6	chr14:39644158-39644208	NHBE	bronchial:	n/a
7	chr14:39644156-39644206	MCF10A-Er-Src	breast:	n/a
8	chr14:39644156-39644206	SAEC	small airway:	n/a
9	chr14:39644158-39644208	PrEC	prostate:	n/a
10	chr14:39644156-39644206	GM12892	blood:	n/a
11	chr14:39644186-39644236	HAEpiC	amniotic membrane:	n/a
12	chr14:39644158-39644208	HCM	heart:	n/a
13	chr14:39644158-39644208	BE2_C	brain:	n/a
14	chr14:39644186-39644236	HL-60	blood:	n/a
15	chr14:39644156-39644206	HL-60	blood:	n/a
16	chr14:39644156-39644206	ECC-1	luminal epithelium:	n/a
17	chr14:39644158-39644208	HepG2	liver:	n/a
18	chr14:39644186-39644236	SK-N-SH	brain:	n/a
19	chr14:39644158-39644208	NT2-D1	testis:	n/a
20	chr14:39644186-39644236	HRCEpiC	kidney:	n/a
21	chr14:39644186-39644236	GM06990	blood:	n/a
22	chr14:39644186-39644236	Caco-2	colon:	n/a
23	chr14:39644158-39644208	GM06990	blood:	n/a
24	chr14:39644156-39644206	SKMC	muscle:	n/a
25	chr14:39644186-39644236	GM19239	blood:	n/a
26	chr14:39644158-39644208	GM12878	blood:	n/a
27	chr14:39644156-39644206	K562	blood:	n/a
28	chr14:39644186-39644236	MCF10A-Er-Src	breast:	n/a
29	chr14:39644156-39644206	T-47D	breast:	n/a
30	chr14:39644156-39644206	HCPEpiC	choroid plexus:	n/a
31	chr14:39644158-39644208	RPTEC	kidney:	n/a
32	chr14:39644186-39644236	NT2-D1	testis:	n/a
33	chr14:39644156-39644206	Hepatocyte	liver:	n/a
34	chr14:39644186-39644236	SAEC	small airway:	n/a
35	chr14:39644186-39644236	HIPEpiC	eye:	n/a
36	chr14:39644156-39644206	Jurkat	blood:	n/a
37	chr14:39644186-39644236	HEK293	kidney:	embryo
38	chr14:39644156-39644206	HRE	kidney:	n/a
39	chr14:39644158-39644208	HNPCEpiC	eye:	n/a
40	chr14:39644156-39644206	GM12891	blood:	n/a
41	chr14:39644158-39644208	Hepatocyte	liver:	n/a
42	chr14:39644186-39644236	BE2_C	brain:	n/a
43	chr14:39644186-39644236	HEEpiC	esophagus:	n/a
44	chr14:39644158-39644208	NHDF-neo	bronchial:	n/a
45	chr14:39644158-39644208	CMK	blood:	n/a
46	chr14:39644156-39644206	HRCEpiC	kidney:	n/a
47	chr14:39644156-39644206	BJ	skin:	n/a
48	chr14:39644156-39644206	AG04449	skin:	fetal
49	chr14:39644186-39644236	HCPEpiC	choroid plexus:	n/a
50	chr14:39644186-39644236	ProgFib	skin:	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:39643730..39648156-chr14:39734640..39738499,10	MCF-7	breast:
2	chr14:39642546..39647225-chr14:39733415..39737853,13	MCF-7	breast:
3	chr14:39643409..39646477-chr14:39682252..39685201,4	MCF-7	breast:
4	chr14:39582047..39584964-chr14:39643383..39645099,4	K562	blood:
5	chr12:109124423..109125287-chr14:39644045..39644833,2	Hela-S3	cervix:
6	chr14:39582116..39585012-chr14:39643452..39645860,4	MCF-7	breast:
7	chr14:39582528..39584759-chr14:39643385..39645029,2	K562	blood:
8	chr10:32217178..32218897-chr14:39643343..39645172,2	MCF-7	breast:
9	chr14:39642562..39645375-chr14:39698449..39701112,2	MCF-7	breast:
10	chr14:39644193..39644797-chr19:48706835..48707792,2	NB4	blood:
11	chr1:115323181..115323841-chr14:39644186..39644952,2	HCT-116	colon:
12	chr14:39644109..39644895-chr15:66648640..66649233,2	HCT-116	colon:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TRAPPC6B-1	chr14:39644089-39644516	ENSG00000259083

Variant related genes	Relation type
TRAPPC6B	TF binding region
PNN	TF binding region
TRAPPC6B	CpG island
PNN	CpG island
ENSG00000092208	Chromatin interaction
ENSG00000075131	Chromatin interaction
ENSG00000052723	Chromatin interaction
ENSG00000110880	Chromatin interaction
ENSG00000258941	Chromatin interaction
ENSG00000268583	Chromatin interaction
ENSG00000258940	Chromatin interaction
ENSG00000150527	Chromatin interaction
ENSG00000150526	Chromatin interaction
ENSG00000165322	Chromatin interaction
ENSG00000105483	Chromatin interaction
ENSG00000270503	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10133797	0.84[AFR][1000 genomes]
rs4143954	0.84[AFR][1000 genomes]
rs4902448	0.84[AFR][1000 genomes]
rs57653321	0.95[AFR][1000 genomes]
rs58851254	0.84[AFR][1000 genomes]
rs62640373	1.00[AFR][1000 genomes]
rs72673356	0.95[AFR][1000 genomes]
rs73289780	0.91[AFR][1000 genomes]
rs73289792	0.91[AFR][1000 genomes]
rs73289793	0.91[AFR][1000 genomes]
rs73291544	0.95[AFR][1000 genomes]
rs73291567	1.00[AFR][1000 genomes]
rs73291573	1.00[AFR][1000 genomes]
rs73291585	1.00[AFR][1000 genomes]
rs73291588	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3429206	chr14:39160730-39648836	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv1051247	chr14:39604035-39652789	Genic enhancers Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 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	chr14:39640000-39644400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:39643200-39645000	Active TSS	Rectal Smooth Muscle	rectum
3	chr14:39643200-39645200	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr14:39643200-39645200	Active TSS	Brain Anterior Caudate	brain
5	chr14:39643200-39645200	Active TSS	Duodenum Mucosa	Duodenum
6	chr14:39643200-39645600	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr14:39643200-39645600	Active TSS	H1 Cell Line	embryonic stem cell
8	chr14:39643400-39644200	Enhancers	Fetal Heart	heart
9	chr14:39643400-39645000	Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr14:39643400-39645200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr14:39643400-39645200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr14:39643400-39645200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr14:39643400-39645200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr14:39643400-39645200	Active TSS	Colon Smooth Muscle	Colon
15	chr14:39643400-39645200	Active TSS	HMEC	breast
16	chr14:39643400-39645200	Active TSS	Osteobl	bone
17	chr14:39643400-39645400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr14:39643400-39645400	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr14:39643400-39645600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr14:39643400-39645600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr14:39643400-39645600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr14:39643400-39645600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr14:39643400-39645600	Active TSS	Fetal Intestine Small	intestine
24	chr14:39643400-39645600	Active TSS	Rectal Mucosa Donor 29	rectum
25	chr14:39643400-39645800	Active TSS	H9 Cell Line	embryonic stem cell
26	chr14:39643600-39644200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
27	chr14:39643600-39644200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr14:39643600-39644400	Active TSS	HUES6 Cell Line	embryonic stem cell
29	chr14:39643600-39644400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr14:39643600-39644400	Active TSS	Right Atrium	heart
31	chr14:39643600-39645000	Active TSS	Adipose Nuclei	Adipose
32	chr14:39643600-39645000	Active TSS	A549	lung
33	chr14:39643600-39645200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr14:39643600-39645200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr14:39643600-39645200	Active TSS	iPS-18 Cell Line	embryonic stem cell
36	chr14:39643600-39645200	Active TSS	iPS-20b Cell Line	embryonic stem cell
37	chr14:39643600-39645200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
38	chr14:39643600-39645200	Active TSS	Brain Angular Gyrus	brain
39	chr14:39643600-39645200	Active TSS	Brain Hippocampus Middle	brain
40	chr14:39643600-39645200	Active TSS	Brain Substantia Nigra	brain
41	chr14:39643600-39645200	Active TSS	Duodenum Smooth Muscle	Duodenum
42	chr14:39643600-39645200	Active TSS	Fetal Kidney	kidney
43	chr14:39643600-39645200	Active TSS	Fetal Stomach	stomach
44	chr14:39643600-39645200	Active TSS	Rectal Mucosa Donor 31	rectum
45	chr14:39643600-39645200	Active TSS	Thymus	Thymus
46	chr14:39643600-39645200	Active TSS	Spleen	Spleen
47	chr14:39643600-39645200	Active TSS	HSMM	muscle
48	chr14:39643600-39645200	Active TSS	NH-A	brain
49	chr14:39643600-39645400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr14:39643600-39645400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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