Variant report

Variant	rs11623518
Chromosome Location	chr14:104214778-104214779
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:104208629..104211518-chr14:104213200..104216195,2	MCF-7	breast:
2	chr14:104172426..104175375-chr14:104213214..104215800,2	K562	blood:

Variant related genes	Relation type
ENSG00000126215	Chromatin interaction
ENSG00000088808	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11625521	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11625613	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11625676	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11626714	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11627337	0.81[EUR][1000 genomes]
rs12432151	0.83[ASN][1000 genomes]
rs12432763	0.83[EUR][1000 genomes]
rs12435668	0.83[EUR][1000 genomes]
rs12436297	0.83[EUR][1000 genomes]
rs17101871	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs45444495	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4641668	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56971743	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57560950	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58369398	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58411502	0.83[EUR][1000 genomes]
rs59320483	0.83[EUR][1000 genomes]
rs60431526	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs730114	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73367074	0.83[EUR][1000 genomes]
rs8006493	0.83[EUR][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	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	nsv1052010	chr14:104061472-104216267	Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv542201	chr14:104061472-104216267	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	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
8	nsv470673	chr14:104162263-104219949	Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
9	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

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104191600-104223800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr14:104192200-104216600	Strong transcription	Sigmoid Colon	Sigmoid Colon
3	chr14:104194200-104220400	Strong transcription	Rectal Mucosa Donor 29	rectum
4	chr14:104195800-104215200	Weak transcription	HSMM	muscle
5	chr14:104196000-104268000	Weak transcription	Small Intestine	intestine
6	chr14:104198000-104218800	Strong transcription	Gastric	stomach
7	chr14:104198200-104224800	Strong transcription	Left Ventricle	heart
8	chr14:104200000-104220200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr14:104200200-104219600	Weak transcription	A549	lung
10	chr14:104200400-104231800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr14:104200600-104216800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr14:104201000-104215800	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr14:104201000-104267600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr14:104201400-104214800	Weak transcription	GM12878-XiMat	blood
15	chr14:104202400-104216200	Weak transcription	Fetal Heart	heart
16	chr14:104203000-104220200	Weak transcription	NHLF	lung
17	chr14:104203200-104216800	Strong transcription	Pancreas	Pancrea
18	chr14:104203200-104220200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr14:104203200-104224600	Weak transcription	Fetal Brain Male	brain
20	chr14:104203200-104267800	Weak transcription	Psoas Muscle	Psoas
21	chr14:104203600-104220600	Strong transcription	Fetal Stomach	stomach
22	chr14:104204000-104216200	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr14:104204200-104220600	Weak transcription	Colon Smooth Muscle	Colon
24	chr14:104204800-104216400	Strong transcription	Placenta	Placenta
25	chr14:104204800-104216800	Strong transcription	Stomach Smooth Muscle	stomach
26	chr14:104206200-104222800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr14:104206400-104214800	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr14:104206400-104217600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr14:104206600-104219200	Weak transcription	Stomach Mucosa	stomach
30	chr14:104206800-104219800	Weak transcription	Brain Germinal Matrix	brain
31	chr14:104206800-104222800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr14:104207200-104214800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr14:104207400-104219600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr14:104207800-104214800	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr14:104208000-104224600	Weak transcription	Fetal Brain Female	brain
36	chr14:104208000-104224600	Weak transcription	Fetal Lung	lung
37	chr14:104208400-104214800	Weak transcription	Brain Hippocampus Middle	brain
38	chr14:104208400-104220600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr14:104208400-104228200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr14:104208600-104215600	Weak transcription	HUVEC	blood vessel
41	chr14:104208800-104260000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr14:104209000-104215400	Weak transcription	Primary B cells from peripheral blood	blood
43	chr14:104209000-104228200	Weak transcription	Fetal Kidney	kidney
44	chr14:104209200-104214800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr14:104209400-104217800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr14:104209400-104217800	Weak transcription	Fetal Muscle Trunk	muscle
47	chr14:104209400-104264800	Weak transcription	Brain Substantia Nigra	brain
48	chr14:104209800-104216800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr14:104209800-104218800	Strong transcription	Lung	lung
50	chr14:104210000-104216200	Strong transcription	Skeletal Muscle Female	skeletal muscle

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