Variant report

Variant	rs10135654
Chromosome Location	chr14:35455813-35455814
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:35451408..35453567-chr14:35454171..35458229,4	MCF-7	breast:
2	chr14:35454836..35457264-chr14:35513196..35514987,2	K562	blood:
3	chr14:35341954..35346847-chr14:35449484..35456301,15	MCF-7	breast:
4	chr14:35455186..35457809-chr14:35509575..35512529,2	K562	blood:
5	chr14:35455082..35458071-chr14:35459564..35462136,2	MCF-7	breast:
6	chr14:35341867..35346512-chr14:35447191..35456965,26	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258704	Chromatin interaction
ENSG00000258738	Chromatin interaction
ENSG00000100883	Chromatin interaction
ENSG00000198604	Chromatin interaction
ENSG00000151327	Chromatin interaction

Extended variants
information (count: 91 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10130702	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10130877	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10130911	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10132452	0.96[ASN][1000 genomes]
rs10133628	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10135024	0.97[ASN][1000 genomes]
rs10135457	0.96[ASN][1000 genomes]
rs10143040	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10143749	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10145490	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10147046	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10148463	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10149083	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10151096	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10151445	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1028447	0.94[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs12050394	0.84[ASN][1000 genomes]
rs12433712	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12434719	0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12437158	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12586945	0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12589238	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12590905	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12878315	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12878685	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12878970	0.95[ASN][1000 genomes]
rs12881501	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12882728	0.96[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs12886340	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12887073	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12887279	0.96[ASN][1000 genomes]
rs12891283	0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12891473	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17102982	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1955437	0.94[ASN][1000 genomes]
rs2250579	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2273155	0.96[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs2383691	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2383692	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2383694	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28373866	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28479817	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28627922	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28656938	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34793309	0.80[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs35523754	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35768136	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3759549	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4386037	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4981256	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4981257	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4982231	0.82[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs4982232	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55670220	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57787567	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6571691	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7144898	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7147346	0.96[ASN][1000 genomes]
rs7154181	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7158547	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7159696	0.97[ASN][1000 genomes]
rs72474105	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8004237	0.95[ASN][1000 genomes]
rs8005641	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8006578	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8006908	0.88[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs8009854	0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs8012308	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8015059	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8015200	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8017611	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8018702	0.96[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs8018761	0.96[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs8020050	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8021502	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9322942	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053722	chr14:35257458-35465784	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10135654	FAM177A1	cis	Whole Blood	GTEx

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35452800-35478200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr14:35453200-35467200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr14:35453200-35474200	Weak transcription	Aorta	Aorta
4	chr14:35453400-35456000	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr14:35453400-35459600	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr14:35453400-35467400	Weak transcription	Placenta	Placenta
7	chr14:35453600-35467600	Weak transcription	Fetal Intestine Small	intestine
8	chr14:35453600-35468800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr14:35453600-35470600	Weak transcription	Fetal Stomach	stomach
10	chr14:35453600-35474200	Weak transcription	Right Ventricle	heart
11	chr14:35453600-35485600	Weak transcription	HSMMtube	muscle
12	chr14:35453800-35466600	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr14:35453800-35467200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr14:35453800-35467200	Weak transcription	Primary hematopoietic stem cells	blood
15	chr14:35453800-35467200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr14:35453800-35468600	Weak transcription	Colonic Mucosa	Colon
17	chr14:35453800-35472000	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr14:35453800-35473600	Weak transcription	Fetal Lung	lung
19	chr14:35453800-35474000	Weak transcription	NHEK	skin
20	chr14:35453800-35476000	Weak transcription	Rectal Smooth Muscle	rectum
21	chr14:35453800-35499200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr14:35454000-35465600	Weak transcription	Primary B cells from cord blood	blood
23	chr14:35454000-35479200	Weak transcription	Gastric	stomach
24	chr14:35454400-35456800	Active TSS	GM12878-XiMat	blood
25	chr14:35454400-35458600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr14:35454400-35460800	Weak transcription	Lung	lung
27	chr14:35454400-35466000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr14:35454400-35468800	Weak transcription	Left Ventricle	heart
29	chr14:35454400-35471200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr14:35454400-35481600	Weak transcription	HMEC	breast
31	chr14:35454400-35485200	Weak transcription	Esophagus	oesophagus
32	chr14:35454400-35509800	Weak transcription	Psoas Muscle	Psoas
33	chr14:35454600-35468800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr14:35454600-35474000	Weak transcription	Brain Angular Gyrus	brain
35	chr14:35454800-35456200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr14:35454800-35457200	Enhancers	HepG2	liver
37	chr14:35454800-35459600	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr14:35454800-35465600	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr14:35454800-35465800	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr14:35454800-35466200	Weak transcription	Primary B cells from peripheral blood	blood
41	chr14:35454800-35466600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr14:35454800-35466600	Weak transcription	Osteobl	bone
43	chr14:35454800-35466800	Weak transcription	Adipose Nuclei	Adipose
44	chr14:35454800-35467000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr14:35454800-35468400	Weak transcription	Fetal Muscle Leg	muscle
46	chr14:35454800-35468600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr14:35454800-35468800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr14:35454800-35469200	Weak transcription	Brain Substantia Nigra	brain
49	chr14:35454800-35471600	Weak transcription	Ovary	ovary
50	chr14:35454800-35471800	Weak transcription	Sigmoid Colon	Sigmoid Colon

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