Variant report

Variant	rs2234096
Chromosome Location	chr14:24665007-24665008
allele	A/C
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	ZBTB7A	chr14:24664363-24665181	HepG2	liver:	n/a	n/a
2	CREB1	chr14:24664585-24665168	ECC-1	luminal epithelium:	n/a	n/a
3	CHD2	chr14:24664515-24665429	HepG2	liver:	n/a	n/a
4	GABPA	chr14:24664165-24665520	MCF-7	breast:	n/a	n/a
5	ZBTB33	chr14:24664601-24665068	A549	lung:	n/a	n/a
6	MAX	chr14:24663979-24665950	HCT-116	colon:	n/a	chr14:24664488-24664497 chr14:24664484-24664493
7	ATF3	chr14:24664694-24665104	K562	blood:	n/a	n/a
8	ZBTB7A	chr14:24664447-24665147	K562	blood:	n/a	n/a
9	NFIC	chr14:24664287-24665168	ECC-1	luminal epithelium:	n/a	n/a
10	RAD21	chr14:24664473-24665299	HepG2	liver:	n/a	n/a
11	SMARCB1	chr14:24664010-24665539	Hela-S3	cervix:	n/a	n/a
12	GABPA	chr14:24664341-24665352	A549	lung:	n/a	n/a
13	ELF1	chr14:24664216-24665728	MCF-7	breast:	n/a	chr14:24664901-24664914
14	SIN3AK20	chr14:24664257-24665690	MCF-7	breast:	n/a	n/a
15	SIX5	chr14:24664412-24665434	A549	lung:	n/a	n/a
16	POLR2A	chr14:24664253-24665554	ECC-1	luminal epithelium:	n/a	n/a
17	POLR2A	chr14:24664366-24665307	A549	lung:	n/a	n/a
18	E2F4	chr14:24664360-24665031	MCF10A-Er-Src	breast:	n/a	chr14:24664523-24664535 chr14:24664587-24664599 chr14:24664550-24664565 chr14:24664574-24664584 chr14:24664712-24664722
19	MAX	chr14:24664345-24665242	K562	blood:	n/a	chr14:24664488-24664497 chr14:24664484-24664493
20	MAX	chr14:24664338-24665475	K562	blood:	n/a	chr14:24664488-24664497 chr14:24664484-24664493
21	EP300	chr14:24664380-24665110	GM12878	blood:	n/a	chr14:24664703-24664719 chr14:24664907-24664923 chr14:24664757-24664770 chr14:24664699-24664715
22	REST	chr14:24663804-24665600	H1-neurons	neurons:	n/a	chr14:24664975-24664988 chr14:24665151-24665160 chr14:24664792-24664805
23	PAX5	chr14:24664378-24665281	GM12892	blood:	n/a	n/a
24	PAX5	chr14:24664483-24665143	GM12878	blood:	n/a	n/a
25	POLR2A	chr14:24663854-24665646	MCF-7	breast:	n/a	n/a
26	GABPA	chr14:24664791-24665162	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr14:24664256-24665552	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr14:24664401-24665568	GM19193	blood:	n/a	n/a
29	SIN3AK20	chr14:24664808-24665048	H1-hESC	embryonic stem cell:	n/a	n/a
30	YY1	chr14:24664343-24665358	GM12892	blood:	n/a	chr14:24664573-24664587
31	BCLAF1	chr14:24664329-24665962	GM12878	blood:	n/a	chr14:24664434-24664447 chr14:24664573-24664586 chr14:24664902-24664911 chr14:24664796-24664809
32	POLR2A	chr14:24664409-24665217	HepG2	liver:	n/a	n/a
33	GABPA	chr14:24664490-24665304	A549	lung:	n/a	n/a
34	STAT5A	chr14:24664177-24666099	GM12878	blood:	n/a	n/a
35	SIN3AK20	chr14:24664456-24665195	H1-hESC	embryonic stem cell:	n/a	n/a
36	JUN	chr14:24664164-24665318	K562	blood:	n/a	chr14:24664336-24664345
37	HA-E2F1	chr14:24663984-24665079	MCF-7	breast:	n/a	chr14:24664523-24664535 chr14:24664587-24664599 chr14:24664523-24664534 chr14:24664550-24664565 chr14:24664574-24664584 chr14:24664712-24664722
38	CREB1	chr14:24663714-24666046	HepG2	liver:	n/a	n/a
39	POLR2A	chr14:24664363-24665868	HepG2	liver:	n/a	n/a
40	POLR2A	chr14:24664289-24665825	GM12892	blood:	n/a	n/a
41	IRF1	chr14:24664395-24665406	K562	blood:	n/a	n/a
42	PML	chr14:24664390-24665392	MCF-7	breast:	n/a	n/a
43	ETS1	chr14:24664348-24665222	A549	lung:	n/a	chr14:24665187-24665200 chr14:24664900-24664910 chr14:24664902-24664911
44	MXI1	chr14:24664266-24665994	GM12878	blood:	n/a	chr14:24664482-24664497 chr14:24664484-24664499
45	PAX5	chr14:24664773-24665049	GM12878	blood:	n/a	n/a
46	RUNX3	chr14:24664061-24665611	GM12878	blood:	n/a	n/a
47	TAF1	chr14:24664395-24665297	H1-hESC	embryonic stem cell:	n/a	n/a
48	BCL3	chr14:24664478-24665287	A549	lung:	n/a	chr14:24664573-24664586 chr14:24664902-24664911 chr14:24664796-24664809
49	POLR2A	chr14:24664288-24665962	GM12891	blood:	n/a	n/a
50	TAF1	chr14:24664399-24665365	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:24664971-24665021	HUVEC	blood vessel:	n/a
2	chr14:24664971-24665021	HRPEpiC	eye:	n/a
3	chr14:24664979-24665029	HCF	heart:	n/a
4	chr14:24664971-24665021	AG04449	skin:	fetal
5	chr14:24664971-24665021	NHDF-neo	bronchial:	n/a
6	chr14:24664971-24665021	RPTEC	kidney:	n/a
7	chr14:24664971-24665021	HCF	heart:	n/a
8	chr14:24664979-24665029	HCT-116	colon:	n/a
9	chr14:24664971-24665021	A549	lung:	n/a
10	chr14:24664979-24665029	GM12878	blood:	n/a
11	chr14:24664971-24665021	HMEC	breast:	n/a
12	chr14:24664971-24665021	IMR90	lung:	fetal
13	chr14:24664979-24665029	PFSK-1	brain:	n/a
14	chr14:24664971-24665021	GM19239	blood:	n/a
15	chr14:24664979-24665029	Jurkat	blood:	n/a
16	chr14:24664971-24665021	HCPEpiC	choroid plexus:	n/a
17	chr14:24664979-24665029	HRE	kidney:	n/a
18	chr14:24664979-24665029	ProgFib	skin:	n/a
19	chr14:24664979-24665029	HAEpiC	amniotic membrane:	n/a
20	chr14:24664971-24665021	SK-N-SH_RA	brain:	n/a
21	chr14:24664979-24665029	T-47D	breast:	n/a
22	chr14:24664979-24665029	GM12891	blood:	n/a
23	chr14:24664979-24665029	Hela-S3	cervix:	n/a
24	chr14:24664979-24665029	SK-N-SH_RA	brain:	n/a
25	chr14:24664979-24665029	SKMC	muscle:	n/a
26	chr14:24664971-24665021	AG04450	lung:	fetal
27	chr14:24664971-24665021	HCT-116	colon:	n/a
28	chr14:24664971-24665021	PFSK-1	brain:	n/a
29	chr14:24664971-24665021	BE2_C	brain:	n/a
30	chr14:24664979-24665029	HEEpiC	esophagus:	n/a
31	chr14:24664971-24665021	PrEC	prostate:	n/a
32	chr14:24664979-24665029	HIPEpiC	eye:	n/a
33	chr14:24664971-24665021	HEEpiC	esophagus:	n/a
34	chr14:24664971-24665021	MCF-7	breast:	n/a
35	chr14:24664979-24665029	NHDF-neo	bronchial:	n/a
36	chr14:24664979-24665029	HNPCEpiC	eye:	n/a
37	chr14:24664971-24665021	HPAEpiC	pulmonary alveolar:	n/a
38	chr14:24664979-24665029	AG09309	skin:	n/a
39	chr14:24664979-24665029	MCF10A-Er-Src	breast:	n/a
40	chr14:24664971-24665021	ovcar-3	ovarian:	n/a
41	chr14:24664971-24665021	HCM	heart:	n/a
42	chr14:24664979-24665029	MCF-7	breast:	n/a
43	chr14:24664979-24665029	Caco-2	colon:	n/a
44	chr14:24664971-24665021	ProgFib	skin:	n/a
45	chr14:24664979-24665029	SK-N-MC	brain:	n/a
46	chr14:24664979-24665029	NHBE	bronchial:	n/a
47	chr14:24664971-24665021	AoSMC	blood vessel:	n/a
48	chr14:24664971-24665021	AG09309	skin:	n/a
49	chr14:24664971-24665021	HRCEpiC	kidney:	n/a
50	chr14:24664979-24665029	ECC-1	luminal epithelium:	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:24663653..24665902-chr14:24759209..24762065,2	MCF-7	breast:
2	chr14:24608474..24613065-chr14:24662221..24666729,4	K562	blood:
3	chr14:24581893..24584671-chr14:24663785..24666116,3	K562	blood:
4	chr14:24663072..24666624-chr14:24679241..24683731,7	K562	blood:
5	chr14:24663295..24665382-chr14:24899130..24900830,2	MCF-7	breast:
6	chr14:24662821..24665398-chr7:44837592..44839696,2	MCF-7	breast:
7	chr14:24614938..24617925-chr14:24664131..24667025,3	K562	blood:
8	chr14:24664420..24666699-chr14:24881559..24884040,2	K562	blood:
9	chr14:24662549..24668200-chr14:24676089..24685150,15	K562	blood:
10	chr14:24663873..24666575-chr14:24674141..24676718,3	K562	blood:
11	chr14:24663376..24665996-chr14:24700353..24703613,3	K562	blood:
12	chr14:24603940..24606871-chr14:24663780..24665844,2	K562	blood:
13	chr14:24614938..24617925-chr14:24664131..24665791,2	K562	blood:
14	chr14:24663694..24665415-chr17:57915311..57917797,2	MCF-7	breast:
15	chr14:24662397..24665373-chr14:24674141..24675902,2	K562	blood:
16	chr14:24663122..24665767-chr20:45983902..45986395,2	MCF-7	breast:
17	chr14:24655120..24666858-chr14:24765577..24776253,24	MCF-7	breast:
18	chr11:62623465..62624050-chr14:24664468..24665254,2	Hela-S3	cervix:
19	chr14:24581771..24583991-chr14:24662920..24665943,3	MCF-7	breast:

Variant related genes	Relation type
TM9SF1	TF binding region
TM9SF1	CpG island
ENSG00000062716	Chromatin interaction
ENSG00000213920	Chromatin interaction
ENSG00000139899	Chromatin interaction
ENSG00000196943	Chromatin interaction
ENSG00000101040	Chromatin interaction
ENSG00000259321	Chromatin interaction
ENSG00000196262	Chromatin interaction
ENSG00000100938	Chromatin interaction
ENSG00000205978	Chromatin interaction
ENSG00000254505	Chromatin interaction
ENSG00000168003	Chromatin interaction
ENSG00000157379	Chromatin interaction
ENSG00000255526	Chromatin interaction
ENSG00000136305	Chromatin interaction
ENSG00000139908	Chromatin interaction
ENSG00000092098	Chromatin interaction
ENSG00000100911	Chromatin interaction
ENSG00000254692	Chromatin interaction
ENSG00000092010	Chromatin interaction
ENSG00000213906	Chromatin interaction
ENSG00000129535	Chromatin interaction
ENSG00000129559	Chromatin interaction
ENSG00000100897	Chromatin interaction
ENSG00000100441	Chromatin interaction
ENSG00000100908	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1242023	0.92[ASN][1000 genomes]
rs12588742	0.92[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12588782	0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12589157	0.91[JPT][hapmap]
rs17184526	0.93[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2234095	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2295318	0.91[JPT][hapmap]
rs2295319	0.91[JPT][hapmap]
rs3814815	0.91[JPT][hapmap]
rs55949103	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs72694306	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72694311	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs72694312	0.86[AMR][1000 genomes];0.88[ASN][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	esv3405661	chr14:24189883-24670942	Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
2	esv3357679	chr14:24663762-24666260	Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	30 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	chr14:24663600-24665200	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
2	chr14:24663600-24666600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr14:24663800-24665600	Active TSS	Fetal Kidney	kidney
4	chr14:24663800-24665800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr14:24663800-24665800	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr14:24663800-24665800	Active TSS	Aorta	Aorta
7	chr14:24663800-24666200	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr14:24664000-24665600	Active TSS	iPS-18 Cell Line	embryonic stem cell
9	chr14:24664000-24665600	Active TSS	Breast Myoepithelial Primary Cells	Breast
10	chr14:24664000-24665800	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr14:24664000-24666000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr14:24664000-24666000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr14:24664000-24666000	Active TSS	Right Atrium	heart
14	chr14:24664000-24666200	Active TSS	H9 Cell Line	embryonic stem cell
15	chr14:24664000-24666400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr14:24664000-24666600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr14:24664000-24666600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
18	chr14:24664000-24667000	Active TSS	Pancreas	Pancrea
19	chr14:24664200-24665200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr14:24664200-24665400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr14:24664200-24665400	Active TSS	Primary T helper naive cells from peripheral blood	blood
22	chr14:24664200-24665400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr14:24664200-24665400	Active TSS	Brain Hippocampus Middle	brain
24	chr14:24664200-24665400	Active TSS	Brain Substantia Nigra	brain
25	chr14:24664200-24665400	Active TSS	Thymus	Thymus
26	chr14:24664200-24665600	Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr14:24664200-24665600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
28	chr14:24664200-24665600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr14:24664200-24665600	Active TSS	Brain Anterior Caudate	brain
30	chr14:24664200-24665600	Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr14:24664200-24665600	Active TSS	Esophagus	oesophagus
32	chr14:24664200-24665600	Active TSS	Fetal Brain Female	brain
33	chr14:24664200-24665600	Active TSS	HSMMtube	muscle
34	chr14:24664200-24665800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr14:24664200-24665800	Active TSS	Gastric	stomach
36	chr14:24664200-24665800	Active TSS	Small Intestine	intestine
37	chr14:24664200-24665800	Active TSS	NHDF-Ad	bronchial
38	chr14:24664200-24666000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
39	chr14:24664200-24666000	Flanking Active TSS	Primary hematopoietic stem cells	blood
40	chr14:24664200-24666000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
41	chr14:24664200-24666000	Active TSS	Left Ventricle	heart
42	chr14:24664200-24666000	Active TSS	Ovary	ovary
43	chr14:24664200-24666000	Active TSS	A549	lung
44	chr14:24664200-24666000	Active TSS	NHLF	lung
45	chr14:24664200-24666200	Active TSS	Psoas Muscle	Psoas
46	chr14:24664200-24666400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr14:24664200-24666400	Active TSS	Pancreatic Islets	Pancreatic Islet
48	chr14:24664200-24666600	Active TSS	HUES6 Cell Line	embryonic stem cell
49	chr14:24664400-24665200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr14:24664400-24665200	Active TSS	Primary monocytes fromperipheralblood	blood

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