Variant report

Variant	rs1547604
Chromosome Location	chr14:104270659-104270660
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:104268190..104272252-chr14:104312561..104316180,5	MCF-7	breast:
2	chr14:104268895..104271672-chr14:104378681..104380449,2	MCF-7	breast:
3	chr14:104270610..104272155-chr14:104386224..104388963,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258735	Chromatin interaction
ENSG00000088808	Chromatin interaction
ENSG00000156411	Chromatin interaction

Extended variants
information (count: 87 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs1040813	0.86[CEU][hapmap]
rs11160759	0.86[CEU][hapmap]
rs11160760	0.89[CEU][hapmap];0.81[EUR][1000 genomes]
rs11160761	0.81[EUR][1000 genomes]
rs11160762	0.89[CEU][hapmap];0.81[EUR][1000 genomes]
rs11160766	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1155751	0.86[CEU][hapmap]
rs11623546	0.89[CEU][hapmap];0.81[EUR][1000 genomes]
rs11624184	0.89[CEU][hapmap]
rs11625740	0.85[CEU][hapmap]
rs11626377	0.86[CEU][hapmap]
rs11627258	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11628332	0.89[CEU][hapmap]
rs11628787	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11847468	0.89[CEU][hapmap]
rs1187416	0.86[CEU][hapmap]
rs12437066	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12879501	0.89[CEU][hapmap];0.81[EUR][1000 genomes]
rs12880413	0.81[EUR][1000 genomes]
rs12880821	0.85[CEU][hapmap];0.80[EUR][1000 genomes]
rs12885018	0.86[CEU][hapmap];0.82[EUR][1000 genomes]
rs12889993	0.89[CEU][hapmap];0.82[EUR][1000 genomes]
rs12891175	0.89[CEU][hapmap];0.82[EUR][1000 genomes]
rs1475007	0.89[CEU][hapmap]
rs1535097	0.89[CEU][hapmap]
rs1535098	0.85[CEU][hapmap]
rs1955660	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1997913	0.85[CEU][hapmap]
rs2006281	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2024669	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2144079	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2144080	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2223937	0.89[CEU][hapmap]
rs2295140	1.00[CEU][hapmap];0.96[CHB][hapmap];0.86[JPT][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2295141	0.89[CEU][hapmap]
rs2295145	0.89[CEU][hapmap]
rs2295147	0.85[CEU][hapmap];0.91[CHB][hapmap]
rs2295148	0.85[CEU][hapmap];0.95[CHB][hapmap]
rs2295151	0.85[CEU][hapmap];0.96[CHB][hapmap]
rs2368558	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2368559	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2368560	0.86[CEU][hapmap];0.80[EUR][1000 genomes]
rs2887282	0.89[CEU][hapmap];0.81[EUR][1000 genomes]
rs3818085	0.89[CEU][hapmap]
rs4900594	0.89[CEU][hapmap]
rs4900595	0.81[EUR][1000 genomes]
rs4900600	0.86[CEU][hapmap]
rs4906365	0.86[CEU][hapmap]
rs4906368	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4906371	0.81[EUR][1000 genomes]
rs4906373	0.81[EUR][1000 genomes]
rs55824307	0.81[EUR][1000 genomes]
rs6575997	0.89[CEU][hapmap]
rs6575998	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6575999	0.81[EUR][1000 genomes]
rs6576003	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6576005	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67478160	0.95[ASN][1000 genomes]
rs7141928	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7147171	0.89[CEU][hapmap];0.82[EUR][1000 genomes]
rs7156834	0.86[CEU][hapmap]
rs7159810	0.89[CEU][hapmap]
rs7401901	0.80[EUR][1000 genomes]
rs8003653	0.89[CEU][hapmap]
rs8004408	0.89[CEU][hapmap]
rs8005225	0.89[CEU][hapmap]
rs8005594	0.86[CEU][hapmap];0.81[EUR][1000 genomes]
rs8009868	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8011109	0.81[EUR][1000 genomes]
rs8014294	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8016014	0.86[CEU][hapmap]
rs8018062	0.80[EUR][1000 genomes]
rs8018363	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8022783	0.80[EUR][1000 genomes]
rs876002	0.89[CEU][hapmap]
rs941473	0.93[CEU][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs941474	0.82[CEU][hapmap]
rs941475	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9743799	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	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
3	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
4	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
5	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
6	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
7	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
8	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

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104215400-104273200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr14:104218400-104277800	Weak transcription	Spleen	Spleen
3	chr14:104230600-104271600	Weak transcription	Esophagus	oesophagus
4	chr14:104236800-104272800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr14:104239000-104272400	Weak transcription	Primary B cells from peripheral blood	blood
6	chr14:104241000-104274400	Weak transcription	Colon Smooth Muscle	Colon
7	chr14:104245200-104271400	Weak transcription	Right Ventricle	heart
8	chr14:104257600-104272000	Weak transcription	Rectal Smooth Muscle	rectum
9	chr14:104257800-104284000	Weak transcription	Gastric	stomach
10	chr14:104258800-104274800	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr14:104262600-104277200	Weak transcription	Pancreas	Pancrea
12	chr14:104263000-104277400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr14:104263200-104281800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr14:104263600-104274600	Weak transcription	Liver	Liver
15	chr14:104263800-104275800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr14:104267200-104271000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr14:104267600-104271000	Enhancers	HMEC	breast
18	chr14:104268000-104271200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr14:104268600-104285600	Weak transcription	Lung	lung
20	chr14:104269000-104270800	Weak transcription	Left Ventricle	heart
21	chr14:104269200-104271400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr14:104269200-104272000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr14:104270000-104270800	Enhancers	Pancreatic Islets	Pancreatic Islet
24	chr14:104270000-104270800	Enhancers	Osteobl	bone
25	chr14:104270000-104271000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr14:104270200-104271000	Enhancers	Muscle Satellite Cultured Cells	--
27	chr14:104270200-104271000	Enhancers	Brain Angular Gyrus	brain
28	chr14:104270200-104273800	Enhancers	Fetal Heart	heart
29	chr14:104270400-104272000	Enhancers	GM12878-XiMat	blood
30	chr14:104270600-104271200	Enhancers	NHEK	skin
31	chr14:104270600-104271600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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