Variant report

Variant	rs73291585
Chromosome Location	chr14:39644368-39644369
allele	A/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	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	TAF1	chr14:39644290-39644711	Hela-S3	cervix:	n/a	n/a
20	IRF4	chr14:39644023-39644447	GM12878	blood:	n/a	n/a
21	CEBPB	chr14:39643853-39644686	MCF-7	breast:	n/a	chr14:39644385-39644393 chr14:39644212-39644223 chr14:39644302-39644310
22	YY1	chr14:39644191-39644739	K562	blood:	n/a	chr14:39644662-39644671 chr14:39644423-39644432 chr14:39644666-39644680 chr14:39644473-39644493
23	E2F6	chr14:39644304-39644541	K562	blood:	n/a	chr14:39644412-39644419 chr14:39644412-39644419 chr14:39644423-39644432 chr14:39644385-39644394 chr14:39644412-39644419
24	HSF1	chr14:39643931-39645159	HepG2	liver:	n/a	n/a
25	TCF7L2	chr14:39643929-39645153	Hela-S3	cervix:	n/a	n/a
26	PAX5	chr14:39644030-39644637	GM12878	blood:	n/a	n/a
27	JUND	chr14:39644099-39644611	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr14:39643127-39645394	K562	blood:	n/a	n/a
29	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
30	CTCF	chr14:39644360-39644510	GM12878	blood:	n/a	n/a
31	CTCF	chr14:39644340-39644490	AG04449	skin:	n/a	n/a
32	POLR2A	chr14:39643326-39645159	Hela-S3	cervix:	n/a	n/a
33	SP1	chr14:39643950-39644630	H1-hESC	embryonic stem cell:	n/a	chr14:39644374-39644395 chr14:39644270-39644281 chr14:39644331-39644345 chr14:39644291-39644312
34	ELF1	chr14:39643986-39644623	K562	blood:	n/a	n/a
35	EP300	chr14:39643872-39645078	ECC-1	luminal epithelium:	n/a	chr14:39644123-39644131
36	TAF1	chr14:39644049-39644716	GM12891	blood:	n/a	n/a
37	ELF1	chr14:39643926-39645160	GM12878	blood:	n/a	chr14:39645101-39645112
38	CEBPB	chr14:39643922-39644578	A549	lung:	n/a	chr14:39644385-39644393 chr14:39644212-39644223 chr14:39644302-39644310
39	TEAD4	chr14:39643860-39644593	K562	blood:	n/a	n/a
40	BHLHE40	chr14:39643229-39644631	K562	blood:	n/a	n/a
41	EP300	chr14:39643964-39644611	H1-hESC	embryonic stem cell:	n/a	chr14:39644123-39644131
42	EP300	chr14:39643449-39645212	GM12878	blood:	n/a	chr14:39644123-39644131 chr14:39643623-39643637 chr14:39645102-39645116
43	TAF1	chr14:39643985-39644682	SK-N-SH	brain:	n/a	n/a
44	BHLHE40	chr14:39643933-39644508	A549	lung:	n/a	n/a
45	YY1	chr14:39644278-39645024	H1-hESC	embryonic stem cell:	n/a	chr14:39644662-39644671 chr14:39644423-39644432 chr14:39644666-39644680 chr14:39644473-39644493 chr14:39644814-39644828
46	POLR2A	chr14:39643919-39645402	HepG2	liver:	n/a	n/a
47	GTF2B	chr14:39644120-39644605	K562	blood:	n/a	n/a
48	NR2F2	chr14:39643797-39644605	K562	blood:	n/a	n/a
49	YY1	chr14:39644157-39645122	A549	lung:	n/a	chr14:39644662-39644671 chr14:39644423-39644432 chr14:39644666-39644680 chr14:39644473-39644493 chr14:39644814-39644828
50	MYC	chr14:39644261-39644473	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:39644345-39644395	PANC-1	pancreas:	n/a
2	chr14:39644345-39644395	HRE	kidney:	n/a
3	chr14:39644345-39644395	SAEC	small airway:	n/a
4	chr14:39644345-39644395	HIPEpiC	eye:	n/a
5	chr14:39644345-39644395	HCF	heart:	n/a
6	chr14:39644345-39644395	SKMC	muscle:	n/a
7	chr14:39644345-39644395	RPTEC	kidney:	n/a
8	chr14:39644345-39644395	Hepatocyte	liver:	n/a
9	chr14:39644345-39644395	HPAEpiC	pulmonary alveolar:	n/a
10	chr14:39644345-39644395	A549	lung:	n/a
11	chr14:39644345-39644395	Hela-S3	cervix:	n/a
12	chr14:39644345-39644395	AG04449	skin:	fetal
13	chr14:39644345-39644395	HUVEC	blood vessel:	n/a
14	chr14:39644345-39644395	AG09309	skin:	n/a
15	chr14:39644345-39644395	HCPEpiC	choroid plexus:	n/a
16	chr14:39644345-39644395	NH-A	brain:	n/a
17	chr14:39644345-39644395	HepG2	liver:	n/a
18	chr14:39644345-39644395	Jurkat	blood:	n/a
19	chr14:39644345-39644395	AG04450	lung:	fetal
20	chr14:39644345-39644395	HRCEpiC	kidney:	n/a
21	chr14:39644345-39644395	HNPCEpiC	eye:	n/a
22	chr14:39644345-39644395	MCF-7	breast:	n/a
23	chr14:39644345-39644395	U87	brain:	n/a
24	chr14:39644345-39644395	ECC-1	luminal epithelium:	n/a
25	chr14:39644345-39644395	BE2_C	brain:	n/a
26	chr14:39644345-39644395	SK-N-SH_RA	brain:	n/a
27	chr14:39644345-39644395	HCM	heart:	n/a
28	chr14:39644345-39644395	HRPEpiC	eye:	n/a
29	chr14:39644345-39644395	MCF10A-Er-Src	breast:	n/a
30	chr14:39644345-39644395	K562	blood:	n/a
31	chr14:39644345-39644395	GM19239	blood:	n/a
32	chr14:39644345-39644395	PrEC	prostate:	n/a
33	chr14:39644345-39644395	AoSMC	blood vessel:	n/a
34	chr14:39644345-39644395	SK-N-SH	brain:	n/a
35	chr14:39644345-39644395	HEEpiC	esophagus:	n/a
36	chr14:39644345-39644395	Caco-2	colon:	n/a
37	chr14:39644345-39644395	SK-N-MC	brain:	n/a
38	chr14:39644345-39644395	BJ	skin:	n/a
39	chr14:39644345-39644395	NHBE	bronchial:	n/a
40	chr14:39644345-39644395	GM06990	blood:	n/a
41	chr14:39644345-39644395	GM12891	blood:	n/a
42	chr14:39644345-39644395	HL-60	blood:	n/a
43	chr14:39644345-39644395	PFSK-1	brain:	n/a
44	chr14:39644345-39644395	AG10803	skin:	n/a
45	chr14:39644345-39644395	CMK	blood:	n/a
46	chr14:39644345-39644395	ovcar-3	ovarian:	n/a
47	chr14:39644345-39644395	NT2-D1	testis:	n/a
48	chr14:39644345-39644395	NHDF-neo	bronchial:	n/a
49	chr14:39644345-39644395	IMR90	lung:	fetal
50	chr14:39644345-39644395	HCT-116	colon:	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
PNN	CpG island
TRAPPC6B	CpG island
ENSG00000258941	Chromatin interaction
ENSG00000110880	Chromatin interaction
ENSG00000165322	Chromatin interaction
ENSG00000258940	Chromatin interaction
ENSG00000092208	Chromatin interaction
ENSG00000150527	Chromatin interaction
ENSG00000270503	Chromatin interaction
ENSG00000075131	Chromatin interaction
ENSG00000150526	Chromatin interaction
ENSG00000105483	Chromatin interaction
ENSG00000268583	Chromatin interaction
ENSG00000052723	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]
rs73291583	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	chr14:39643400-39645000	Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr14:39643400-39645200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr14:39643400-39645200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr14:39643400-39645200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr14:39643400-39645200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr14:39643400-39645200	Active TSS	Colon Smooth Muscle	Colon
14	chr14:39643400-39645200	Active TSS	HMEC	breast
15	chr14:39643400-39645200	Active TSS	Osteobl	bone
16	chr14:39643400-39645400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr14:39643400-39645400	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr14:39643400-39645600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr14:39643400-39645600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr14:39643400-39645600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr14:39643400-39645600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr14:39643400-39645600	Active TSS	Fetal Intestine Small	intestine
23	chr14:39643400-39645600	Active TSS	Rectal Mucosa Donor 29	rectum
24	chr14:39643400-39645800	Active TSS	H9 Cell Line	embryonic stem cell
25	chr14:39643600-39644400	Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr14:39643600-39644400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr14:39643600-39644400	Active TSS	Right Atrium	heart
28	chr14:39643600-39645000	Active TSS	Adipose Nuclei	Adipose
29	chr14:39643600-39645000	Active TSS	A549	lung
30	chr14:39643600-39645200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr14:39643600-39645200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr14:39643600-39645200	Active TSS	iPS-18 Cell Line	embryonic stem cell
33	chr14:39643600-39645200	Active TSS	iPS-20b Cell Line	embryonic stem cell
34	chr14:39643600-39645200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
35	chr14:39643600-39645200	Active TSS	Brain Angular Gyrus	brain
36	chr14:39643600-39645200	Active TSS	Brain Hippocampus Middle	brain
37	chr14:39643600-39645200	Active TSS	Brain Substantia Nigra	brain
38	chr14:39643600-39645200	Active TSS	Duodenum Smooth Muscle	Duodenum
39	chr14:39643600-39645200	Active TSS	Fetal Kidney	kidney
40	chr14:39643600-39645200	Active TSS	Fetal Stomach	stomach
41	chr14:39643600-39645200	Active TSS	Rectal Mucosa Donor 31	rectum
42	chr14:39643600-39645200	Active TSS	Thymus	Thymus
43	chr14:39643600-39645200	Active TSS	Spleen	Spleen
44	chr14:39643600-39645200	Active TSS	HSMM	muscle
45	chr14:39643600-39645200	Active TSS	NH-A	brain
46	chr14:39643600-39645400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr14:39643600-39645400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr14:39643600-39645400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr14:39643600-39645400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr14:39643600-39645400	Active TSS	Muscle Satellite Cultured Cells	--

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