Variant report

Variant	rs58033365
Chromosome Location	chr14:104030901-104030902
allele	C/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	CTCF	chr14:104030800-104030950	GM12864	blood:	n/a	n/a
2	CTCF	chr14:104030820-104030970	GM12865	blood:	n/a	n/a
3	ZNF384	chr14:104030707-104030974	GM12878	blood:	n/a	n/a
4	MXI1	chr14:104027798-104030910	SK-N-SH	brain:	n/a	chr14:104030620-104030635 chr14:104030622-104030637

No.	Distal block	Cell Line	Cell type
1	chr14:104026845..104031617-chr14:104090112..104098528,12	MCF-7	breast:
2	chr14:103986804..103989544-chr14:104030581..104032325,2	K562	blood:
3	chr14:104026574..104032100-chr14:104033737..104038565,9	MCF-7	breast:
4	chr14:104027886..104033252-chr14:104178637..104183670,7	MCF-7	breast:

Variant related genes	Relation type
RNU4-68P	TF binding region
BAG5	TF binding region
ENSG00000166165	Chromatin interaction
ENSG00000269963	Chromatin interaction
ENSG00000201184	Chromatin interaction
ENSG00000256053	Chromatin interaction
ENSG00000126214	Chromatin interaction
ENSG00000100711	Chromatin interaction
ENSG00000126215	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10431750	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11844466	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11851000	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11851616	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12887734	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12889403	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12889721	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12890820	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12892038	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12894729	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2274267	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2296482	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2403196	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2403197	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2896487	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34026011	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34186780	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34843146	0.80[ASN][1000 genomes]
rs34896432	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35026580	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35229468	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35496194	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35498576	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4525427	0.82[ASN][1000 genomes]
rs4906335	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4906336	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4906337	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4906338	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55751606	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57072546	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs60249782	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs67899457	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7140568	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71417868	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7148456	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8017628	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8017993	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3332028	chr14:103581471-104328811	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
2	nsv832883	chr14:103927687-104120953	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv902297	chr14:103956182-104061646	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv902298	chr14:103959289-104061646	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv902299	chr14:103967504-104061646	Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
6	nsv902300	chr14:103967504-104205811	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
7	nsv902303	chr14:103979953-104034746	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
8	nsv902304	chr14:103979953-104061646	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
9	nsv902305	chr14:103979953-104073551	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
10	esv1839595	chr14:103987140-104034746	Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
11	nsv566022	chr14:104007555-104092789	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 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	chr14:104029800-104031000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr14:104030000-104031400	Enhancers	Primary T killer memory cells from peripheral blood	blood
3	chr14:104030000-104032800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr14:104030000-104045000	Weak transcription	Aorta	Aorta
5	chr14:104030200-104031000	Enhancers	Primary B cells from cord blood	blood
6	chr14:104030200-104031000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr14:104030200-104031000	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr14:104030200-104031000	Enhancers	Left Ventricle	heart
9	chr14:104030200-104031000	Active TSS	HepG2	liver
10	chr14:104030200-104031400	Enhancers	Primary B cells from peripheral blood	blood
11	chr14:104030200-104031400	Enhancers	Brain Substantia Nigra	brain
12	chr14:104030200-104031400	Enhancers	Fetal Brain Male	brain
13	chr14:104030200-104031600	Enhancers	Pancreas	Pancrea
14	chr14:104030200-104031800	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr14:104030200-104032800	Weak transcription	Gastric	stomach
16	chr14:104030200-104040600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr14:104030200-104044800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr14:104030400-104031000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr14:104030400-104031000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr14:104030400-104031400	Enhancers	Brain Anterior Caudate	brain
21	chr14:104030400-104031400	Enhancers	Brain Hippocampus Middle	brain
22	chr14:104030400-104031400	Enhancers	Esophagus	oesophagus
23	chr14:104030400-104031600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr14:104030400-104031600	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr14:104030400-104031600	Enhancers	Ovary	ovary
26	chr14:104030400-104032200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr14:104030400-104034000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr14:104030400-104040600	Weak transcription	Lung	lung
29	chr14:104030600-104031000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr14:104030600-104031000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr14:104030600-104031000	Enhancers	Fetal Stomach	stomach
32	chr14:104030600-104031000	Active TSS	Thymus	Thymus
33	chr14:104030600-104031400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr14:104030600-104032000	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr14:104030600-104032800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr14:104030600-104035200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr14:104030600-104035200	Weak transcription	Placenta	Placenta
38	chr14:104030600-104035400	Weak transcription	Fetal Kidney	kidney
39	chr14:104030600-104037200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr14:104030600-104039200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr14:104030600-104039600	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr14:104030600-104040600	Weak transcription	HSMMtube	muscle
43	chr14:104030600-104040800	Weak transcription	Right Ventricle	heart
44	chr14:104030600-104042400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr14:104030600-104042800	Weak transcription	Fetal Heart	heart
46	chr14:104030800-104031000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr14:104030800-104031000	Enhancers	Muscle Satellite Cultured Cells	--
48	chr14:104030800-104031000	Enhancers	HMEC	breast
49	chr14:104030800-104031000	Enhancers	NHEK	skin
50	chr14:104030800-104031400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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