Variant report

Variant	rs74086746
Chromosome Location	chr14:104377616-104377617
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:104321815..104323849-chr14:104376770..104378345,2	MCF-7	breast:
2	chr14:104377058..104380322-chr14:104382660..104385611,3	MCF-7	breast:
3	chr14:104375830..104378019-chr14:104390962..104392479,2	MCF-7	breast:
4	chr14:104311401..104315706-chr14:104374803..104378289,8	MCF-7	breast:
5	chr14:104375013..104378021-chr14:104379285..104384013,4	K562	blood:
6	chr14:104370970..104374376-chr14:104374591..104379019,6	K562	blood:
7	chr14:104348645..104351214-chr14:104375295..104378157,2	MCF-7	breast:
8	chr14:104272328..104275733-chr14:104376448..104378285,3	MCF-7	breast:
9	chr14:104181823..104183759-chr14:104376074..104377999,2	MCF-7	breast:
10	chr14:104312523..104316268-chr14:104373150..104378341,6	MCF-7	breast:
11	chr14:104375126..104376640-chr14:104376755..104379317,2	MCF-7	breast:
12	chr14:104159760..104161873-chr14:104375990..104378240,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000100711	Chromatin interaction
ENSG00000269940	Chromatin interaction
ENSG00000258735	Chromatin interaction
ENSG00000156411	Chromatin interaction
ENSG00000088808	Chromatin interaction
ENSG00000126215	Chromatin interaction
ENSG00000269910	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs1053419	1.00[ASN][1000 genomes]
rs11850704	1.00[ASN][1000 genomes]
rs12434277	1.00[EUR][1000 genomes]
rs17095276	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17095279	0.82[AMR][1000 genomes]
rs17101928	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17101930	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17101937	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17101941	0.87[AMR][1000 genomes]
rs17101944	0.87[AMR][1000 genomes]
rs17101950	0.82[AMR][1000 genomes]
rs17101951	0.82[AMR][1000 genomes]
rs17101952	0.82[AMR][1000 genomes]
rs17101953	0.82[AMR][1000 genomes]
rs17101955	0.82[AMR][1000 genomes]
rs17101959	0.82[AMR][1000 genomes]
rs2273609	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2295661	0.82[AMR][1000 genomes]
rs28384386	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28576742	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3783311	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45523439	0.82[AMR][1000 genomes]
rs55797395	0.81[AFR][1000 genomes]
rs56209256	0.81[AFR][1000 genomes]
rs56253620	0.81[AFR][1000 genomes]
rs57686592	0.90[AFR][1000 genomes]
rs58073768	0.90[AFR][1000 genomes]
rs58442831	0.81[AFR][1000 genomes]
rs59439840	1.00[AFR][1000 genomes]
rs60014570	1.00[AFR][1000 genomes]
rs7140812	0.96[EUR][1000 genomes]
rs74086476	0.90[AFR][1000 genomes]
rs74086478	1.00[AFR][1000 genomes]
rs74086744	1.00[ASN][1000 genomes]
rs74086745	1.00[AFR][1000 genomes]
rs74086749	1.00[AFR][1000 genomes]
rs74086750	0.90[AFR][1000 genomes]
rs74086754	0.90[AFR][1000 genomes]
rs74086755	0.90[AFR][1000 genomes]
rs74086758	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74086769	0.81[AFR][1000 genomes]
rs74086775	0.81[AFR][1000 genomes]
rs74086785	0.81[AFR][1000 genomes]
rs74086982	0.81[AFR][1000 genomes]
rs74089139	0.81[AFR][1000 genomes]
rs74089152	0.90[AFR][1000 genomes]
rs74089176	0.90[AFR][1000 genomes]
rs74089537	0.81[AFR][1000 genomes]
rs74089539	0.81[AFR][1000 genomes]
rs74089546	0.81[AFR][1000 genomes]
rs8014519	0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045162	chr14:104140525-104594841	Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv542204	chr14:104140525-104594841	Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	esv2758368	chr14:104147525-104412813	Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	esv2760013	chr14:104147525-104412813	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	nsv902313	chr14:104162263-104378087	Bivalent Enhancer Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
6	nsv902318	chr14:104255083-104464809	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
7	nsv902319	chr14:104255083-104620077	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	64 gene(s)	inside rSNPs	diseases
8	nsv902321	chr14:104283104-104378087	Strong transcription Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
9	nsv1042792	chr14:104326137-104384260	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
10	nsv542207	chr14:104326137-104384260	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
11	nsv1048353	chr14:104361402-104483286	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
12	nsv902322	chr14:104365310-104464809	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104363200-104387000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr14:104367800-104378000	Weak transcription	K562	blood
3	chr14:104370000-104378600	Weak transcription	Aorta	Aorta
4	chr14:104374400-104378000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr14:104375000-104385800	Weak transcription	Small Intestine	intestine
6	chr14:104375800-104384200	Strong transcription	Dnd41	blood
7	chr14:104376000-104384800	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr14:104376600-104377800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr14:104376600-104377800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr14:104376600-104378200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr14:104376600-104378400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr14:104376600-104378800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr14:104376600-104384200	Weak transcription	Right Atrium	heart
14	chr14:104376800-104377800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr14:104376800-104377800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr14:104376800-104377800	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr14:104376800-104377800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr14:104376800-104377800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr14:104376800-104378000	Weak transcription	Fetal Brain Male	brain
20	chr14:104376800-104378000	Weak transcription	Lung	lung
21	chr14:104376800-104378000	Weak transcription	Ovary	ovary
22	chr14:104376800-104378200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr14:104376800-104378200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr14:104376800-104378200	Weak transcription	NHEK	skin
25	chr14:104376800-104378400	Weak transcription	GM12878-XiMat	blood
26	chr14:104376800-104378400	Weak transcription	Hela-S3	cervix
27	chr14:104376800-104378800	Weak transcription	Primary hematopoietic stem cells	blood
28	chr14:104376800-104382200	Weak transcription	Pancreas	Pancrea
29	chr14:104376800-104386200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr14:104376800-104387000	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr14:104376800-104387000	Weak transcription	Stomach Mucosa	stomach
32	chr14:104377000-104377800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr14:104377000-104377800	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr14:104377000-104377800	Weak transcription	Brain Anterior Caudate	brain
35	chr14:104377000-104377800	Weak transcription	Brain Substantia Nigra	brain
36	chr14:104377000-104378000	Weak transcription	Brain Germinal Matrix	brain
37	chr14:104377000-104378200	Weak transcription	HUVEC	blood vessel
38	chr14:104377000-104378600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr14:104377200-104377800	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr14:104377200-104377800	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr14:104377200-104377800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr14:104377200-104377800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr14:104377200-104377800	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr14:104377200-104377800	Weak transcription	HepG2	liver
45	chr14:104377200-104378000	Weak transcription	Colon Smooth Muscle	Colon
46	chr14:104377200-104378000	Weak transcription	HSMM	muscle
47	chr14:104377200-104378000	Weak transcription	NH-A	brain
48	chr14:104377200-104378400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr14:104377200-104378600	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr14:104377200-104378600	Weak transcription	Fetal Kidney	kidney

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