Variant report

Variant	rs28569331
Chromosome Location	chr14:35473584-35473585
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:35339842..35342583-chr14:35472313..35474482,2	K562	blood:
2	chr14:35465599..35469103-chr14:35471087..35474391,3	MCF-7	breast:
3	chr14:35473349..35476278-chr14:35514310..35517232,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000151327	Chromatin interaction

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10130069	0.92[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs10130509	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10130773	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10134907	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10134914	0.87[ASN][1000 genomes]
rs10136059	0.88[ASN][1000 genomes]
rs10140135	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10142667	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10142861	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10144430	0.90[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs10145433	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10145723	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10146407	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10146699	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10148691	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10151273	0.85[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs10151720	0.84[AFR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1028448	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11156871	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11540758	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12434485	0.82[EUR][1000 genomes]
rs12435454	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12437439	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12588810	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13379372	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1568200	0.86[ASN][1000 genomes]
rs17091786	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17102962	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17103042	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2038254	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2254990	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2273154	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2273157	0.93[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs2295103	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2295104	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2383693	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28384418	0.93[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs28395170	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28404080	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28535942	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28577270	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28589276	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28618323	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28870452	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3759548	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3809448	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3885855	0.86[ASN][1000 genomes]
rs45531432	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4981258	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4982234	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4982235	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4982236	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58320987	0.83[ASN][1000 genomes]
rs60152856	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61100068	0.84[ASN][1000 genomes]
rs61191004	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7141261	0.85[ASN][1000 genomes]
rs7147571	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8020370	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8021414	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045939	chr14:35311074-35494703	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	nsv901604	chr14:35381137-35485748	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
7	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
8	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
9	nsv1035925	chr14:35404661-35483420	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers 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	33 gene(s)	inside rSNPs	diseases
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35452800-35478200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr14:35453200-35474200	Weak transcription	Aorta	Aorta
3	chr14:35453600-35474200	Weak transcription	Right Ventricle	heart
4	chr14:35453600-35485600	Weak transcription	HSMMtube	muscle
5	chr14:35453800-35473600	Weak transcription	Fetal Lung	lung
6	chr14:35453800-35474000	Weak transcription	NHEK	skin
7	chr14:35453800-35476000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr14:35453800-35499200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr14:35454000-35479200	Weak transcription	Gastric	stomach
10	chr14:35454400-35481600	Weak transcription	HMEC	breast
11	chr14:35454400-35485200	Weak transcription	Esophagus	oesophagus
12	chr14:35454400-35509800	Weak transcription	Psoas Muscle	Psoas
13	chr14:35454600-35474000	Weak transcription	Brain Angular Gyrus	brain
14	chr14:35454800-35474000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr14:35454800-35481600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr14:35454800-35483600	Weak transcription	Small Intestine	intestine
17	chr14:35454800-35484800	Weak transcription	Fetal Brain Male	brain
18	chr14:35455200-35477200	Weak transcription	Colon Smooth Muscle	Colon
19	chr14:35455200-35482800	Weak transcription	A549	lung
20	chr14:35455200-35487200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr14:35455600-35481600	Weak transcription	NHLF	lung
22	chr14:35455800-35473600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr14:35456400-35483400	Weak transcription	Pancreas	Pancrea
24	chr14:35457000-35477200	Weak transcription	Hela-S3	cervix
25	chr14:35459400-35480200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr14:35462800-35476000	Weak transcription	HUVEC	blood vessel
27	chr14:35464000-35477200	Weak transcription	Brain Anterior Caudate	brain
28	chr14:35464000-35478000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr14:35464000-35480200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr14:35464200-35474200	Weak transcription	Thymus	Thymus
31	chr14:35465200-35500600	Strong transcription	HepG2	liver
32	chr14:35465600-35474200	Weak transcription	Fetal Kidney	kidney
33	chr14:35465600-35475000	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr14:35465600-35482400	Weak transcription	Brain Hippocampus Middle	brain
35	chr14:35465600-35500200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr14:35465800-35474400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr14:35465800-35474800	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr14:35465800-35489000	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr14:35466000-35501400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr14:35466000-35503800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr14:35466200-35474400	Strong transcription	Primary B cells from peripheral blood	blood
42	chr14:35466200-35500600	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr14:35466400-35498200	Weak transcription	Spleen	Spleen
44	chr14:35466600-35474400	Strong transcription	HUES48 Cell Line	embryonic stem cell
45	chr14:35466600-35475000	Strong transcription	Primary T cells fromperipheralblood	blood
46	chr14:35466600-35475000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr14:35466600-35475800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr14:35466600-35502000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr14:35466800-35483600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr14:35466800-35502800	Strong transcription	Primary T helper cells PMA-I stimulated	--

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