Variant report

Variant	rs34981527
Chromosome Location	chr16:75607254-75607255
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFF	chr16:75607151-75607379	K562	blood:	n/a	n/a
2	NFIC	chr16:75607024-75607544	ECC-1	luminal epithelium:	n/a	chr16:75607204-75607221 chr16:75607203-75607219 chr16:75607203-75607220
3	CEBPB	chr16:75607123-75607359	K562	blood:	n/a	n/a
4	MAFK	chr16:75607154-75607347	K562	blood:	n/a	chr16:75607226-75607236
5	POLR2A	chr16:75606106-75607581	GM12878	blood:	n/a	n/a
6	ZNF384	chr16:75607178-75607301	K562	blood:	n/a	n/a
7	STAT3	chr16:75607081-75607281	GM12878	blood:	n/a	n/a
8	EP300	chr16:75607092-75607288	K562	blood:	n/a	n/a
9	JUND	chr16:75607082-75607323	K562	blood:	n/a	n/a
10	POLR2A	chr16:75606580-75607352	GM12878	blood:	n/a	n/a
11	POLR2A	chr16:75606819-75607423	GM12878	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:75605349..75607916-chr16:75609968..75612593,3	MCF-7	breast:
2	chr16:75606835..75608592-chr16:75636865..75638512,2	MCF-7	breast:
3	chr16:75598960..75602885-chr16:75604556..75608989,5	K562	blood:
4	chr16:75602668..75604551-chr16:75605865..75608375,2	MCF-7	breast:
5	chr16:75606093..75608487-chr16:75610789..75613227,2	MCF-7	breast:
6	chr16:75599241..75602314-chr16:75606211..75609238,3	MCF-7	breast:
7	chr16:75605676..75608554-chr16:75681140..75683398,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TERF2IP-5	chr16:75607138-75608675	NONHSAT143746

No data

Variant related genes	Relation type
GABARAPL2	TF binding region
ENSG00000166848	Chromatin interaction
ENSG00000065457	Chromatin interaction
ENSG00000034713	Chromatin interaction
ENSG00000065427	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs34427692	1.00[AFR][1000 genomes]
rs34838148	1.00[AMR][1000 genomes]
rs35281606	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916502	chr16:74845880-75732365	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
2	nsv931939	chr16:75261354-75765025	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
3	nsv1065995	chr16:75373756-75626027	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
4	nsv1063718	chr16:75395969-75608071	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
5	nsv525955	chr16:75473332-75628345	Strong transcription Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
6	nsv532561	chr16:75519574-75636977	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75601200-75608600	Genic enhancers	Primary B cells from peripheral blood	blood
2	chr16:75601200-75624400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr16:75601400-75610200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr16:75601600-75608800	Strong transcription	HUES6 Cell Line	embryonic stem cell
5	chr16:75601600-75609600	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr16:75601600-75613400	Strong transcription	NH-A	brain
7	chr16:75601600-75613800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr16:75601600-75613800	Strong transcription	A549	lung
9	chr16:75601600-75614400	Genic enhancers	Brain Anterior Caudate	brain
10	chr16:75601600-75615200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr16:75601600-75615400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr16:75601800-75608400	Genic enhancers	Left Ventricle	heart
13	chr16:75601800-75608400	Genic enhancers	Skeletal Muscle Female	skeletal muscle
14	chr16:75601800-75608400	Strong transcription	Hela-S3	cervix
15	chr16:75601800-75608400	Strong transcription	NHDF-Ad	bronchial
16	chr16:75601800-75608800	Strong transcription	H9 Cell Line	embryonic stem cell
17	chr16:75601800-75608800	Genic enhancers	Brain Hippocampus Middle	brain
18	chr16:75601800-75608800	Strong transcription	HUVEC	blood vessel
19	chr16:75601800-75609000	Strong transcription	NHEK	skin
20	chr16:75601800-75609400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
21	chr16:75601800-75609800	Strong transcription	HUES48 Cell Line	embryonic stem cell
22	chr16:75601800-75609800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
23	chr16:75601800-75612000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr16:75601800-75612800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr16:75601800-75614400	Strong transcription	Thymus	Thymus
26	chr16:75601800-75615400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr16:75602000-75609200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr16:75602000-75612400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr16:75602000-75612800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr16:75602000-75613200	Strong transcription	HepG2	liver
31	chr16:75602000-75613200	Strong transcription	NHLF	lung
32	chr16:75602000-75613600	Strong transcription	Placenta Amnion	Placenta Amnion
33	chr16:75602000-75614000	Strong transcription	Fetal Lung	lung
34	chr16:75602000-75614200	Strong transcription	Sigmoid Colon	Sigmoid Colon
35	chr16:75602000-75614200	Strong transcription	Osteobl	bone
36	chr16:75602000-75614400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr16:75602000-75614600	Strong transcription	Placenta	Placenta
38	chr16:75602000-75615000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr16:75602000-75615200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr16:75602200-75608400	Genic enhancers	Brain Cingulate Gyrus	brain
41	chr16:75602200-75609000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr16:75602200-75609400	Strong transcription	H1 Cell Line	embryonic stem cell
43	chr16:75602200-75610400	Strong transcription	HSMM	muscle
44	chr16:75602200-75614400	Strong transcription	Fetal Intestine Large	intestine
45	chr16:75602200-75614800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr16:75602400-75609000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
47	chr16:75602600-75608400	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr16:75602600-75610600	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr16:75602600-75614200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr16:75602600-75614400	Strong transcription	Fetal Brain Female	brain

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