Variant report

Variant	rs7195134
Chromosome Location	chr16:81351679-81351680
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	KAP1	chr16:81351163-81351768	K562	blood:	n/a	chr16:81351459-81351467

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:81350616..81353228-chr16:81763798..81765606,2	K562	blood:
2	chr16:81037283..81040126-chr16:81351026..81353469,2	K562	blood:

Variant related genes	Relation type
ENSG00000260495	TF binding region
ENSG00000166451	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10454708	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11150384	0.90[ASN][1000 genomes]
rs11150386	0.85[ASN][1000 genomes]
rs12149852	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12599564	0.95[ASN][1000 genomes]
rs12924233	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3809632	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3809633	0.88[EUR][1000 genomes]
rs4468614	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4522413	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4598907	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4888135	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4888137	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6564868	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7184259	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7186648	0.90[ASN][1000 genomes]
rs7196075	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8055879	0.85[ASN][1000 genomes]
rs8060840	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9926795	0.95[ASN][1000 genomes]
rs9940292	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][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	nsv532569	chr16:80980356-81700149	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv532597	chr16:81009718-81388348	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer 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	56 gene(s)	inside rSNPs	diseases
3	nsv1058519	chr16:81177767-81735333	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
4	nsv948448	chr16:81198147-81906766	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	37 gene(s)	inside rSNPs	diseases
5	nsv1061359	chr16:81349826-81471867	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
6	nsv542992	chr16:81349826-81471867	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81348200-81351800	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr16:81349600-81352000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr16:81349600-81352000	Weak transcription	Gastric	stomach
4	chr16:81349800-81352400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr16:81349800-81352400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr16:81349800-81352400	Weak transcription	Esophagus	oesophagus
7	chr16:81349800-81352400	Weak transcription	Left Ventricle	heart
8	chr16:81349800-81352400	Weak transcription	Psoas Muscle	Psoas
9	chr16:81349800-81357800	Weak transcription	Lung	lung
10	chr16:81349800-81358000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr16:81349800-81358400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr16:81349800-81358400	Weak transcription	Ovary	ovary
13	chr16:81349800-81365800	Weak transcription	Aorta	Aorta
14	chr16:81350000-81351800	Weak transcription	A549	lung
15	chr16:81350000-81352000	Weak transcription	Colon Smooth Muscle	Colon
16	chr16:81350000-81352000	Weak transcription	Stomach Mucosa	stomach
17	chr16:81350000-81352000	Weak transcription	NH-A	brain
18	chr16:81350000-81352000	Weak transcription	NHDF-Ad	bronchial
19	chr16:81350000-81352200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr16:81350000-81352200	Weak transcription	HSMMtube	muscle
21	chr16:81350000-81352400	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr16:81350000-81352400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr16:81350000-81352400	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr16:81350000-81352400	Weak transcription	Rectal Smooth Muscle	rectum
25	chr16:81350000-81352400	Weak transcription	Stomach Smooth Muscle	stomach
26	chr16:81350000-81352400	Weak transcription	NHLF	lung
27	chr16:81350000-81353000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr16:81350000-81353000	Weak transcription	HUVEC	blood vessel
29	chr16:81350000-81353400	Enhancers	HepG2	liver
30	chr16:81350000-81357200	Weak transcription	Fetal Stomach	stomach
31	chr16:81350000-81358000	Weak transcription	Fetal Intestine Small	intestine
32	chr16:81350000-81358200	Weak transcription	Primary T cells from cord blood	blood
33	chr16:81350000-81358400	Weak transcription	Brain Cingulate Gyrus	brain
34	chr16:81350000-81361400	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr16:81350000-81361600	Weak transcription	Primary B cells from peripheral blood	blood
36	chr16:81350000-81364800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr16:81350000-81365800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr16:81350000-81371200	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr16:81350000-81372000	Weak transcription	Primary B cells from cord blood	blood
40	chr16:81350000-81373200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr16:81350000-81375000	Weak transcription	Fetal Intestine Large	intestine
42	chr16:81350200-81352000	Weak transcription	Right Ventricle	heart
43	chr16:81350200-81358400	Weak transcription	Right Atrium	heart
44	chr16:81350400-81352000	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr16:81350400-81352000	Weak transcription	GM12878-XiMat	blood
46	chr16:81350400-81352200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr16:81350400-81352200	Weak transcription	Osteobl	bone
48	chr16:81350400-81352400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr16:81350400-81352400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr16:81350400-81352400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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