Variant report

Variant	rs28395170
Chromosome Location	chr14:35506988-35506989
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:35505958..35507461-chr14:35513757..35515783,2	K562	blood:
2	chr14:35506932..35507762-chr3:185524185..185525086,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000151327	Chromatin interaction

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10130069	0.86[ASN][1000 genomes]
rs10130509	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10130773	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10134907	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10134914	0.83[ASN][1000 genomes]
rs10136059	0.83[ASN][1000 genomes]
rs10140135	0.83[ASN][1000 genomes]
rs10142667	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10142861	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10144430	0.85[ASN][1000 genomes]
rs10145433	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10145723	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10146407	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10146699	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10148691	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10151273	0.85[ASN][1000 genomes]
rs10151720	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1028448	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11156871	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11540758	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12434485	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs12435454	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12437439	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12588810	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12590678	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13379372	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1568200	0.81[ASN][1000 genomes]
rs17091786	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17102962	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17103042	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2038254	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2254990	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2273154	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2273157	0.85[ASN][1000 genomes]
rs2295103	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2295104	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2383693	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2415257	0.80[EUR][1000 genomes]
rs28384418	0.86[ASN][1000 genomes]
rs28404080	0.87[AFR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28535942	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28569331	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28577270	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28589276	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28618323	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28870452	0.94[AFR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3759548	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3809448	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3885855	0.81[ASN][1000 genomes]
rs45531432	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4981258	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4982234	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4982235	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4982236	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58320987	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60152856	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61191004	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7141261	0.80[ASN][1000 genomes]
rs7147571	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs731906	0.84[ASN][1000 genomes]
rs8020370	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8021414	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv456203	chr14:35311272-35512335	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	nsv564200	chr14:35311272-35512335	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
3	nsv901602	chr14:35367889-35571651	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	nsv949617	chr14:35379923-35825436	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
5	nsv1043470	chr14:35398522-35754029	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
6	nsv542031	chr14:35398522-35754029	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
7	nsv901605	chr14:35409214-35512335	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
8	nsv901606	chr14:35449467-35512335	Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
9	nsv901607	chr14:35449467-35540764	Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Enhancers 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	48 gene(s)	inside rSNPs	diseases
10	nsv901608	chr14:35449467-35571651	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
11	nsv901609	chr14:35449467-35587767	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
12	nsv456204	chr14:35466584-35556498	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
13	nsv564263	chr14:35466584-35556498	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
14	nsv901610	chr14:35470049-35509571	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
15	nsv901611	chr14:35470049-35540764	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
16	nsv901612	chr14:35470049-35571651	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
17	nsv901613	chr14:35470049-35587767	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
18	nsv1239	chr14:35477657-35522987	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
19	nsv564264	chr14:35482797-35732369	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
20	nsv901614	chr14:35485748-35571651	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
21	nsv901615	chr14:35485748-35630175	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
22	nsv870305	chr14:35488290-35852349	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
23	nsv1043801	chr14:35493065-35539399	Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35454400-35509800	Weak transcription	Psoas Muscle	Psoas
2	chr14:35485800-35514800	Weak transcription	Right Ventricle	heart
3	chr14:35488600-35514200	Weak transcription	Small Intestine	intestine
4	chr14:35489000-35507200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr14:35490200-35514600	Weak transcription	NHLF	lung
6	chr14:35496800-35514600	Weak transcription	HSMMtube	muscle
7	chr14:35498000-35514200	Weak transcription	Fetal Kidney	kidney
8	chr14:35498600-35514600	Weak transcription	Colon Smooth Muscle	Colon
9	chr14:35500400-35514200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr14:35501800-35514400	Weak transcription	NH-A	brain
11	chr14:35502800-35514600	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr14:35503000-35514400	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr14:35503400-35514200	Weak transcription	Primary T cells from cord blood	blood
14	chr14:35503600-35514400	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr14:35503600-35514400	Weak transcription	Fetal Lung	lung
16	chr14:35503800-35514200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr14:35503800-35514200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr14:35503800-35514400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr14:35503800-35514600	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr14:35503800-35514600	Weak transcription	Stomach Smooth Muscle	stomach
21	chr14:35503800-35514800	Weak transcription	Aorta	Aorta
22	chr14:35504000-35514200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr14:35504000-35514400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr14:35504000-35514400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr14:35504000-35514600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr14:35504000-35514600	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr14:35504000-35514800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr14:35504000-35515000	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr14:35504600-35514200	Weak transcription	Fetal Intestine Small	intestine

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