Variant report

Variant	rs8020050
Chromosome Location	chr14:35474443-35474444
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	chr14:35339842..35342583-chr14:35472313..35474482,2	K562	blood:
2	chr14:35473349..35476278-chr14:35514310..35517232,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000151327	Chromatin interaction

Extended variants
information (count: 96 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10130702	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10130877	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10130911	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10132452	0.94[ASN][1000 genomes]
rs10133628	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10135024	0.82[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs10135457	0.97[ASN][1000 genomes]
rs10135654	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10143040	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10143749	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10145490	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10147046	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10148463	0.97[ASN][1000 genomes]
rs10149083	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10151096	0.91[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs10151445	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1028447	0.88[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs12050394	0.83[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs12433712	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12434719	0.92[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs12437158	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12586945	0.92[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs12589238	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12590905	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12878315	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12878685	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12878970	0.84[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs12881501	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12882728	0.90[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs12886340	0.81[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs12887073	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12887279	0.83[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs12891283	0.92[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs12891473	0.84[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs17102982	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1955437	0.85[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs2250579	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2273155	0.90[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs2383691	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2383692	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2383694	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28373866	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28479817	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28627922	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28656938	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34793309	0.89[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs35523754	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35768136	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3759549	0.84[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs4386037	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4981256	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4981257	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4982231	0.93[ASN][1000 genomes]
rs4982232	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55670220	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57787567	0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6571691	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7144898	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7147346	0.83[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs7154181	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7158547	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7159696	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72474105	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8004237	0.93[ASN][1000 genomes]
rs8005641	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8006578	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8006908	0.84[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs8009854	0.92[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs8012308	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8015059	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8015200	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8017611	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8018702	0.86[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs8018761	0.90[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs8021502	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9322942	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8020050	FAM177A1	cis	Whole Blood	GTEx

Chromatin state (count:122 , 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	chr14:35453600-35485600	Weak transcription	HSMMtube	muscle
3	chr14:35453800-35476000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr14:35453800-35499200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr14:35454000-35479200	Weak transcription	Gastric	stomach
6	chr14:35454400-35481600	Weak transcription	HMEC	breast
7	chr14:35454400-35485200	Weak transcription	Esophagus	oesophagus
8	chr14:35454400-35509800	Weak transcription	Psoas Muscle	Psoas
9	chr14:35454800-35481600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr14:35454800-35483600	Weak transcription	Small Intestine	intestine
11	chr14:35454800-35484800	Weak transcription	Fetal Brain Male	brain
12	chr14:35455200-35477200	Weak transcription	Colon Smooth Muscle	Colon
13	chr14:35455200-35482800	Weak transcription	A549	lung
14	chr14:35455200-35487200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr14:35455600-35481600	Weak transcription	NHLF	lung
16	chr14:35456400-35483400	Weak transcription	Pancreas	Pancrea
17	chr14:35457000-35477200	Weak transcription	Hela-S3	cervix
18	chr14:35459400-35480200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr14:35462800-35476000	Weak transcription	HUVEC	blood vessel
20	chr14:35464000-35477200	Weak transcription	Brain Anterior Caudate	brain
21	chr14:35464000-35478000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr14:35464000-35480200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr14:35465200-35500600	Strong transcription	HepG2	liver
24	chr14:35465600-35475000	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr14:35465600-35482400	Weak transcription	Brain Hippocampus Middle	brain
26	chr14:35465600-35500200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr14:35465800-35474800	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr14:35465800-35489000	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr14:35466000-35501400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr14:35466000-35503800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr14:35466200-35500600	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr14:35466400-35498200	Weak transcription	Spleen	Spleen
33	chr14:35466600-35475000	Strong transcription	Primary T cells fromperipheralblood	blood
34	chr14:35466600-35475000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr14:35466600-35475800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr14:35466600-35502000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr14:35466800-35483600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr14:35466800-35502800	Strong transcription	Primary T helper cells PMA-I stimulated	--
39	chr14:35467000-35475000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr14:35467000-35482600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr14:35467000-35496600	Weak transcription	K562	blood
42	chr14:35467200-35475000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr14:35467200-35475000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr14:35467400-35482400	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr14:35467400-35484800	Weak transcription	Brain Cingulate Gyrus	brain
46	chr14:35467600-35478400	Weak transcription	Brain Germinal Matrix	brain
47	chr14:35467600-35503600	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr14:35467800-35480000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr14:35468400-35475000	Strong transcription	Fetal Muscle Leg	muscle
50	chr14:35468400-35475000	Strong transcription	Osteobl	bone

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