Variant report

Variant	rs3809451
Chromosome Location	chr14:35099982-35099983
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	MAZ	chr14:35098689-35100070	IMR90	lung:	n/a	chr14:35098789-35098799
2	MYBL2	chr14:35098028-35099985	HepG2	liver:	n/a	n/a
3	ESRRA	chr14:35098463-35100090	GM12878	blood:	n/a	chr14:35099500-35099516 chr14:35099287-35099300 chr14:35099502-35099512 chr14:35099500-35099512
4	GATA3	chr14:35099752-35100009	SH-SY5Y	brain:	n/a	chr14:35099895-35099905

No.	Distal block	Cell Line	Cell type
1	chr14:35098073..35100471-chr14:35183193..35185773,2	MCF-7	breast:
2	chr14:35097716..35101474-chr14:35182604..35185285,4	MCF-7	breast:
3	chr14:35022750..35025769-chr14:35096151..35100054,3	MCF-7	breast:
4	chr14:35021714..35023981-chr14:35099677..35102492,2	MCF-7	breast:
5	chr14:35099429..35099987-chr19:47729265..47729998,2	HCT-116	colon:

Variant related genes	Relation type
SNX6	TF binding region
ENSG00000206588	Chromatin interaction
ENSG00000165410	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10129588	0.81[EUR][1000 genomes]
rs10140153	0.82[ASN][1000 genomes]
rs10145193	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10150782	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10151057	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10151255	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10151653	0.82[EUR][1000 genomes]
rs10151959	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10431614	0.89[EUR][1000 genomes]
rs10872888	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10872889	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11156851	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11629253	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11847241	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11847568	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11850430	0.84[EUR][1000 genomes]
rs12431530	0.83[EUR][1000 genomes]
rs12879294	0.89[EUR][1000 genomes]
rs12881535	0.85[ASN][1000 genomes]
rs12884300	0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12888994	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs28688993	0.87[EUR][1000 genomes]
rs34939235	0.85[EUR][1000 genomes]
rs35239119	0.88[EUR][1000 genomes]
rs36068893	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3809450	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3809452	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3923104	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3958	0.95[EUR][1000 genomes]
rs4312221	0.95[EUR][1000 genomes]
rs4347522	0.85[EUR][1000 genomes]
rs4424827	0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4479126	0.89[EUR][1000 genomes]
rs4982192	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4982194	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4982195	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4982196	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4982197	0.87[ASN][1000 genomes]
rs4982198	0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs56065726	0.84[ASN][1000 genomes]
rs61553463	0.88[EUR][1000 genomes]
rs61979724	0.88[EUR][1000 genomes]
rs6571668	0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs6650498	0.88[EUR][1000 genomes]
rs7144356	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7153918	0.82[EUR][1000 genomes]
rs7161203	0.97[EUR][1000 genomes]
rs7161260	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72675279	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs8008650	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs8021267	0.82[EUR][1000 genomes]
rs9635193	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9652316	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040980	chr14:34345018-35255592	Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
2	nsv1048408	chr14:34958352-35255592	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' 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	esv3392700	chr14:34989406-35365530	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	nsv1040303	chr14:35040853-35101044	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv542027	chr14:35040853-35101044	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv1038360	chr14:35040853-35152886	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	esv3408652	chr14:35069966-35110821	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv523334	chr14:35075022-35131862	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	nsv1041857	chr14:35084889-35417180	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35097600-35100000	Active TSS	NHLF	lung
2	chr14:35097800-35100000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr14:35097800-35100000	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr14:35097800-35100000	Active TSS	GM12878-XiMat	blood
5	chr14:35098000-35100000	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr14:35098000-35100000	Active TSS	Rectal Smooth Muscle	rectum
7	chr14:35098200-35100000	Active TSS	H1 Cell Line	embryonic stem cell
8	chr14:35098400-35100000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr14:35098400-35100000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr14:35098400-35100000	Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr14:35098400-35100000	Active TSS	Fetal Brain Male	brain
12	chr14:35098400-35100000	Active TSS	Rectal Mucosa Donor 31	rectum
13	chr14:35098400-35100000	Active TSS	Right Atrium	heart
14	chr14:35098600-35100000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr14:35098600-35100000	Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr14:35098600-35100000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr14:35098600-35100000	Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr14:35098600-35100000	Active TSS	Fetal Brain Female	brain
19	chr14:35098600-35100000	Active TSS	Skeletal Muscle Female	skeletal muscle
20	chr14:35098600-35100000	Active TSS	HMEC	breast
21	chr14:35098600-35100000	Active TSS	HSMMtube	muscle
22	chr14:35098600-35100200	Active TSS	Brain Anterior Caudate	brain
23	chr14:35098600-35100200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr14:35098800-35100000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr14:35098800-35100000	Active TSS	Fetal Thymus	thymus
26	chr14:35098800-35100000	Active TSS	Thymus	Thymus
27	chr14:35099200-35100000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr14:35099200-35100000	Active TSS	Brain Germinal Matrix	brain
29	chr14:35099400-35100000	Flanking Active TSS	Dnd41	blood
30	chr14:35099600-35100000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
31	chr14:35099600-35100000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
32	chr14:35099600-35100000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
33	chr14:35099600-35100000	Flanking Active TSS	Primary B cells from peripheral blood	blood
34	chr14:35099600-35100000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
35	chr14:35099600-35100000	Flanking Active TSS	Primary hematopoietic stem cells	blood
36	chr14:35099600-35100000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
37	chr14:35099600-35100000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
38	chr14:35099600-35100000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
39	chr14:35099600-35100000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
40	chr14:35099600-35100000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
41	chr14:35099600-35100000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
42	chr14:35099600-35100000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr14:35099600-35100000	Flanking Active TSS	Adipose Nuclei	Adipose
44	chr14:35099600-35100000	Flanking Active TSS	Brain Angular Gyrus	brain
45	chr14:35099600-35100000	Flanking Active TSS	Brain Cingulate Gyrus	brain
46	chr14:35099600-35100000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
47	chr14:35099600-35100000	Flanking Active TSS	Colon Smooth Muscle	Colon
48	chr14:35099600-35100000	Flanking Active TSS	Fetal Kidney	kidney
49	chr14:35099600-35100000	Flanking Active TSS	Stomach Smooth Muscle	stomach
50	chr14:35099600-35100000	Flanking Active TSS	A549	lung

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