Variant report

Variant	rs73291581
Chromosome Location	chr14:39643775-39643776
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	WRNIP1	chr14:39643371-39645398	GM12878	blood:	n/a	n/a
3	REST	chr14:39643618-39645414	HepG2	liver:	n/a	chr14:39644625-39644638
4	POLR2A	chr14:39643127-39645394	K562	blood:	n/a	n/a
5	POLR2A	chr14:39643326-39645159	Hela-S3	cervix:	n/a	n/a
6	BHLHE40	chr14:39643229-39644631	K562	blood:	n/a	n/a
7	MTA3	chr14:39643123-39643775	GM12878	blood:	n/a	n/a
8	EP300	chr14:39643449-39645212	GM12878	blood:	n/a	chr14:39644123-39644131 chr14:39643623-39643637 chr14:39645102-39645116
9	KAP1	chr14:39643585-39644699	HEK293	kidney:	n/a	n/a
10	POLR2A	chr14:39643731-39645159	Hela-S3	cervix:	n/a	n/a
11	TAF1	chr14:39643768-39645224	ECC-1	luminal epithelium:	n/a	n/a
12	ZNF263	chr14:39643585-39645061	HEK293-T-REx	kidney:	n/a	n/a
13	POLR2A	chr14:39643663-39645232	Hela-S3	cervix:	n/a	n/a
14	CHD2	chr14:39643311-39645153	K562	blood:	n/a	chr14:39644663-39644673
15	POLR2A	chr14:39643219-39645163	Raji	blood:	n/a	n/a
16	POLR2A	chr14:39643132-39645483	GM12892	blood:	n/a	n/a
17	CEBPB	chr14:39643742-39644870	HCT-116	colon:	n/a	chr14:39644385-39644393 chr14:39644212-39644223 chr14:39644302-39644310
18	POLR2A	chr14:39643640-39645498	GM12892	blood:	n/a	n/a
19	CHD1	chr14:39643485-39645701	IMR90	lung:	n/a	chr14:39644663-39644673
20	POLR2A	chr14:39643737-39644791	K562	blood:	n/a	n/a
21	POLR2A	chr14:39643753-39644699	GM12878	blood:	n/a	n/a
22	TAF1	chr14:39643463-39645263	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr14:39643741-39645327	HepG2	liver:	n/a	n/a
24	TBP	chr14:39643456-39645226	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr14:39643744-39644694	A549	lung:	n/a	n/a
26	HDAC2	chr14:39643511-39645302	HepG2	liver:	n/a	chr14:39643628-39643642
27	TCF12	chr14:39643738-39644678	ECC-1	luminal epithelium:	n/a	n/a
28	CREB1	chr14:39643207-39645484	HepG2	liver:	n/a	n/a
29	MXI1	chr14:39643696-39645425	HepG2	liver:	n/a	n/a
30	POLR2A	chr14:39643209-39645183	NB4	blood:	n/a	n/a
31	POLR2A	chr14:39643714-39643942	A549	lung:	n/a	n/a
32	TBL1XR1	chr14:39643239-39644627	K562	blood:	n/a	n/a
33	POLR2A	chr14:39643354-39645259	GM18526	blood:	n/a	n/a
34	MYC	chr14:39643277-39645350	K562	blood:	n/a	chr14:39644996-39645003
35	POLR2A	chr14:39643679-39645133	A549	lung:	n/a	n/a
36	SP2	chr14:39643770-39644741	HepG2	liver:	n/a	chr14:39644300-39644310 chr14:39644330-39644345
37	CREB1	chr14:39643758-39645291	GM12878	blood:	n/a	n/a
38	ARID3A	chr14:39643226-39644707	K562	blood:	n/a	n/a
39	YY1	chr14:39643567-39643873	GM12878	blood:	n/a	n/a
40	MYBL2	chr14:39643054-39645503	HepG2	liver:	n/a	n/a
41	CREB1	chr14:39643763-39644748	H1-hESC	embryonic stem cell:	n/a	n/a
42	MAX	chr14:39643410-39645398	A549	lung:	n/a	chr14:39644996-39645003
43	POLR2A	chr14:39642960-39651251	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr14:39643183-39645441	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr14:39643632-39645063	GM12878	blood:	n/a	n/a
46	E2F6	chr14:39643735-39645208	A549	lung:	n/a	chr14:39644412-39644419 chr14:39644412-39644419 chr14:39644909-39644920 chr14:39644423-39644432 chr14:39644385-39644394 chr14:39644412-39644419 chr14:39644662-39644671 chr14:39644662-39644674
47	POLR2A	chr14:39643160-39645412	GM12878	blood:	n/a	n/a
48	HNF4G	chr14:39643671-39644718	HepG2	liver:	n/a	n/a
49	NFIC	chr14:39643501-39645806	HepG2	liver:	n/a	n/a
50	SP1	chr14:39643765-39644707	HepG2	liver:	n/a	chr14:39644374-39644395 chr14:39644661-39644673 chr14:39644662-39644671 chr14:39644663-39644672 chr14:39644270-39644281 chr14:39644663-39644672 chr14:39644331-39644345 chr14:39644291-39644312

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	chr14:39582116..39585012-chr14:39643452..39645860,4	MCF-7	breast:
6	chr14:39618656..39622736-chr14:39641683..39644115,3	MCF-7	breast:
7	chr14:39643618..39644189-chr5:43121502..43122396,2	Hela-S3	cervix:
8	chr14:39582528..39584759-chr14:39643385..39645029,2	K562	blood:
9	chr10:32217178..32218897-chr14:39643343..39645172,2	MCF-7	breast:
10	chr14:39642562..39645375-chr14:39698449..39701112,2	MCF-7	breast:
11	chr14:39616786..39619391-chr14:39641245..39644143,2	MCF-7	breast:

Variant related genes	Relation type
PNN	TF binding region
TRAPPC6B	TF binding region
ENSG00000270503	Chromatin interaction
ENSG00000165322	Chromatin interaction
ENSG00000150526	Chromatin interaction
ENSG00000092208	Chromatin interaction
ENSG00000258940	Chromatin interaction
ENSG00000150527	Chromatin interaction
ENSG00000172262	Chromatin interaction
ENSG00000258941	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs34909359	1.00[AMR][1000 genomes]
rs57566573	1.00[AMR][1000 genomes]
rs58371839	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59371684	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59919221	1.00[AMR][1000 genomes]
rs59953702	1.00[AMR][1000 genomes]
rs60367463	1.00[AMR][1000 genomes]
rs60921042	1.00[AMR][1000 genomes]
rs61176483	1.00[AMR][1000 genomes]
rs61549948	1.00[AMR][1000 genomes]
rs7148519	1.00[AMR][1000 genomes]
rs73275040	1.00[AMR][1000 genomes]
rs73275059	1.00[AMR][1000 genomes]
rs73275062	1.00[AMR][1000 genomes]
rs73275075	1.00[AMR][1000 genomes]
rs73275076	1.00[AMR][1000 genomes]
rs73277428	1.00[AMR][1000 genomes]
rs73277432	1.00[AMR][1000 genomes]
rs73277440	1.00[AMR][1000 genomes]
rs73277451	1.00[AMR][1000 genomes]
rs73277466	1.00[AMR][1000 genomes]
rs73277467	1.00[AMR][1000 genomes]
rs73277471	1.00[AMR][1000 genomes]
rs73277473	1.00[AMR][1000 genomes]
rs73277474	1.00[AMR][1000 genomes]
rs73277475	1.00[AMR][1000 genomes]
rs73277478	1.00[AMR][1000 genomes]
rs73277496	1.00[AMR][1000 genomes]
rs73277499	1.00[AMR][1000 genomes]
rs73277501	1.00[AMR][1000 genomes]
rs73279309	1.00[AMR][1000 genomes]
rs73285719	1.00[AMR][1000 genomes]
rs73285749	1.00[AMR][1000 genomes]
rs73285766	1.00[AMR][1000 genomes]
rs73285774	1.00[AMR][1000 genomes]
rs73287662	1.00[AMR][1000 genomes]
rs73291562	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73291565	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73291596	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73291598	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73293309	0.87[AFR][1000 genomes];1.00[AMR][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:123 , 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	chr14:39640600-39643800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr14:39640600-39644000	Weak transcription	Small Intestine	intestine
4	chr14:39640800-39643800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr14:39643200-39643800	Flanking Active TSS	GM12878-XiMat	blood
6	chr14:39643200-39643800	Flanking Active TSS	Hela-S3	cervix
7	chr14:39643200-39644000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr14:39643200-39644000	Flanking Active TSS	Dnd41	blood
9	chr14:39643200-39645000	Active TSS	Rectal Smooth Muscle	rectum
10	chr14:39643200-39645200	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr14:39643200-39645200	Active TSS	Brain Anterior Caudate	brain
12	chr14:39643200-39645200	Active TSS	Duodenum Mucosa	Duodenum
13	chr14:39643200-39645600	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr14:39643200-39645600	Active TSS	H1 Cell Line	embryonic stem cell
15	chr14:39643400-39643800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr14:39643400-39643800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
17	chr14:39643400-39643800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
18	chr14:39643400-39643800	Flanking Active TSS	Brain Cingulate Gyrus	brain
19	chr14:39643400-39643800	Flanking Active TSS	Brain Germinal Matrix	brain
20	chr14:39643400-39643800	Flanking Active TSS	Fetal Intestine Large	intestine
21	chr14:39643400-39643800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
22	chr14:39643400-39643800	Flanking Active TSS	Stomach Mucosa	stomach
23	chr14:39643400-39643800	Flanking Active TSS	Stomach Smooth Muscle	stomach
24	chr14:39643400-39643800	Flanking Active TSS	NHEK	skin
25	chr14:39643400-39644000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
26	chr14:39643400-39644000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
27	chr14:39643400-39644000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
28	chr14:39643400-39644000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr14:39643400-39644000	Flanking Active TSS	HepG2	liver
30	chr14:39643400-39644000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
31	chr14:39643400-39644200	Enhancers	Fetal Heart	heart
32	chr14:39643400-39645000	Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr14:39643400-39645200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr14:39643400-39645200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr14:39643400-39645200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr14:39643400-39645200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr14:39643400-39645200	Active TSS	Colon Smooth Muscle	Colon
38	chr14:39643400-39645200	Active TSS	HMEC	breast
39	chr14:39643400-39645200	Active TSS	Osteobl	bone
40	chr14:39643400-39645400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr14:39643400-39645400	Active TSS	Pancreatic Islets	Pancreatic Islet
42	chr14:39643400-39645600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr14:39643400-39645600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr14:39643400-39645600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr14:39643400-39645600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr14:39643400-39645600	Active TSS	Fetal Intestine Small	intestine
47	chr14:39643400-39645600	Active TSS	Rectal Mucosa Donor 29	rectum
48	chr14:39643400-39645800	Active TSS	H9 Cell Line	embryonic stem cell
49	chr14:39643600-39643800	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr14:39643600-39643800	Flanking Active TSS	Primary T cells from cord blood	blood

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