Variant report

Variant	rs799473
Chromosome Location	chr14:35516213-35516214
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:35515994..35521853-chr14:35871391..35874738,9	MCF-7	breast:
2	chr14:35481674..35484183-chr14:35515641..35517435,2	MCF-7	breast:
3	chr14:35460081..35462987-chr14:35513991..35516983,2	MCF-7	breast:
4	chr1:70819918..70820461-chr14:35515383..35516234,2	Hela-S3	cervix:
5	chr14:35513511..35517056-chr14:35517636..35522677,6	K562	blood:
6	chr14:35515655..35516294-chr7:100025920..100026511,2	Hela-S3	cervix:
7	chr14:35515609..35516589-chr15:49169955..49170611,2	Hela-S3	cervix:
8	chr14:35450596..35455465-chr14:35514082..35520003,7	MCF-7	breast:
9	chr14:35450099..35453742-chr14:35513316..35517237,10	K562	blood:
10	chr14:35512802..35518057-chr14:35589980..35593805,9	MCF-7	breast:
11	chr14:35449656..35453109-chr14:35514529..35517063,4	MCF-7	breast:
12	chr14:35515355..35516338-chr5:171710986..171711486,2	Hela-S3	cervix:
13	chr14:35514347..35518167-chr14:35589018..35591815,3	K562	blood:
14	chr14:35342612..35346213-chr14:35514260..35516898,3	K562	blood:
15	chr14:35513731..35517214-chr14:35589119..35593617,5	MCF-7	breast:
16	chr14:35514169..35519549-chr14:35872431..35877872,11	MCF-7	breast:
17	chr14:35515362..35516342-chr16:11836358..11837096,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
ENSG00000168246	Chromatin interaction
ENSG00000100890	Chromatin interaction
ENSG00000146834	Chromatin interaction
ENSG00000100906	Chromatin interaction
ENSG00000258790	Chromatin interaction
ENSG00000092020	Chromatin interaction
ENSG00000258738	Chromatin interaction
ENSG00000078487	Chromatin interaction
ENSG00000258704	Chromatin interaction
ENSG00000235883	Chromatin interaction
ENSG00000118454	Chromatin interaction
ENSG00000185634	Chromatin interaction
ENSG00000151327	Chromatin interaction
ENSG00000100883	Chromatin interaction
ENSG00000153066	Chromatin interaction
ENSG00000255302	Chromatin interaction
ENSG00000198604	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10136692	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1712356	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1738798	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2747010	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28456062	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2982675	0.80[ASN][1000 genomes]
rs712314	0.80[ASN][1000 genomes]
rs712318	0.80[ASN][1000 genomes]
rs799459	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs799469	0.85[ASN][1000 genomes]
rs799480	0.84[AFR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs799484	0.84[AFR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs799486	0.85[ASN][1000 genomes]
rs799488	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs799495	0.84[AFR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs799498	0.84[AFR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	nsv1052800	chr14:35509858-35607117	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers 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	37 gene(s)	inside rSNPs	diseases
20	nsv1044515	chr14:35510785-35756317	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Active TSS 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	42 gene(s)	inside rSNPs	diseases
21	nsv564265	chr14:35512335-35624831	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic 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 miRNA target site	38 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs799473	ENSG00000151327	cis	multi-tissue	Pritchard
rs799473	FAM177A1	cis	Muscle Skeletal	GTEx
rs799473	FAM177A1	cis	Whole Blood	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35514200-35516400	Active TSS	Brain Cingulate Gyrus	brain
2	chr14:35514200-35516600	Active TSS	Brain Angular Gyrus	brain
3	chr14:35514200-35516600	Active TSS	Brain Hippocampus Middle	brain
4	chr14:35514200-35516600	Active TSS	Brain Inferior Temporal Lobe	brain
5	chr14:35514400-35516600	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr14:35514400-35516600	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr14:35514400-35516800	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr14:35514400-35517000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr14:35514400-35517000	Active TSS	K562	blood
10	chr14:35514400-35517600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr14:35514400-35517600	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr14:35514600-35516400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr14:35514600-35516400	Active TSS	HMEC	breast
14	chr14:35514600-35516600	Active TSS	H1 Cell Line	embryonic stem cell
15	chr14:35514600-35516600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr14:35514600-35516600	Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr14:35514600-35516600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr14:35514600-35516600	Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr14:35514600-35516600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr14:35514600-35516600	Active TSS	Brain Substantia Nigra	brain
21	chr14:35514600-35516600	Active TSS	Fetal Intestine Large	intestine
22	chr14:35514600-35516600	Active TSS	Stomach Mucosa	stomach
23	chr14:35514600-35516600	Active TSS	NHDF-Ad	bronchial
24	chr14:35514600-35516800	Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr14:35514600-35517200	Active TSS	HUES64 Cell Line	embryonic stem cell
26	chr14:35514600-35517200	Active TSS	Right Atrium	heart
27	chr14:35514600-35518000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr14:35514800-35516400	Active TSS	iPS-18 Cell Line	embryonic stem cell
29	chr14:35514800-35516400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr14:35514800-35516400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
31	chr14:35514800-35516400	Active TSS	Esophagus	oesophagus
32	chr14:35514800-35516400	Active TSS	Left Ventricle	heart
33	chr14:35514800-35516400	Active TSS	NHEK	skin
34	chr14:35514800-35516600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr14:35514800-35516600	Active TSS	Placenta	Placenta
36	chr14:35514800-35516600	Active TSS	Fetal Stomach	stomach
37	chr14:35514800-35516600	Active TSS	Pancreas	Pancrea
38	chr14:35514800-35516600	Active TSS	Psoas Muscle	Psoas
39	chr14:35514800-35516600	Active TSS	GM12878-XiMat	blood
40	chr14:35514800-35516600	Active TSS	NHLF	lung
41	chr14:35514800-35516800	Active TSS	H9 Cell Line	embryonic stem cell
42	chr14:35514800-35516800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr14:35514800-35516800	Active TSS	Right Ventricle	heart
44	chr14:35514800-35517200	Active TSS	Fetal Intestine Small	intestine
45	chr14:35514800-35517600	Active TSS	Aorta	Aorta
46	chr14:35515000-35516400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr14:35515000-35516400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr14:35515000-35516400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr14:35515000-35516400	Active TSS	Liver	Liver
50	chr14:35515000-35516400	Active TSS	Brain Anterior Caudate	brain

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