Variant report

Variant	rs10852345
Chromosome Location	chr16:12066114-12066115
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:163)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:163 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPD	chr16:12066056-12066253	HepG2	liver:	n/a	n/a
2	RAD21	chr16:12065971-12066303	SK-N-SH_RA	brain:	n/a	n/a
3	CTCF	chr16:12065972-12066169	K562	blood:	n/a	n/a
4	CTCF	chr16:12065927-12066235	HepG2	liver:	n/a	n/a
5	CTCF	chr16:12066020-12066170	AG10803	skin:	n/a	n/a
6	CTCF	chr16:12065980-12066130	HFF-Myc	foreskin:	n/a	n/a
7	RAD21	chr16:12065857-12066460	MCF-7	breast:	n/a	n/a
8	CTCF	chr16:12066020-12066170	GM12868	blood:	n/a	n/a
9	USF2	chr16:12065969-12066169	Hela-S3	cervix:	n/a	n/a
10	FOXA1	chr16:12066025-12066162	T-47D	breast:	n/a	n/a
11	CTCF	chr16:12066062-12066160	NHEK	skin:	n/a	n/a
12	CTCF	chr16:12066000-12066150	HMF	breast:	n/a	n/a
13	POLR2A	chr16:12065993-12066266	GM12878	blood:	n/a	n/a
14	CTCF	chr16:12066075-12066123	GM13977	blood:	n/a	n/a
15	CTCF	chr16:12065914-12066271	K562	blood:	n/a	n/a
16	CTCF	chr16:12065980-12066130	AG10803	skin:	n/a	n/a
17	CTCF	chr16:12066000-12066150	GM12875	blood:	n/a	n/a
18	CTCF	chr16:12065912-12066244	IMR90	lung:	n/a	n/a
19	RAD21	chr16:12066022-12066174	K562	blood:	n/a	n/a
20	IRF1	chr16:12066113-12066159	K562	blood:	n/a	n/a
21	CTCF	chr16:12066043-12066144	Pancreas_OC	pancreas:	n/a	n/a
22	CTCF	chr16:12066040-12066190	GM12871	blood:	n/a	n/a
23	CTCF	chr16:12066000-12066150	AG04449	skin:	n/a	n/a
24	TEAD4	chr16:12065960-12066250	H1-hESC	embryonic stem cell:	n/a	n/a
25	CTCF	chr16:12066000-12066150	HAc	cerebellar:	n/a	n/a
26	EP300	chr16:12066098-12066148	K562	blood:	n/a	n/a
27	CTCF	chr16:12066020-12066170	HCM	heart:	n/a	n/a
28	ZMIZ1	chr16:12066086-12066177	K562	blood:	n/a	n/a
29	CTCF	chr16:12065957-12066294	K562	blood:	n/a	n/a
30	RAD21	chr16:12065871-12066316	HepG2	liver:	n/a	n/a
31	CTCF	chr16:12065980-12066130	GM12874	blood:	n/a	n/a
32	RAD21	chr16:12065942-12066342	MCF-7	breast:	n/a	n/a
33	CTCF	chr16:12066020-12066170	GM12878	blood:	n/a	n/a
34	CTCF	chr16:12066020-12066170	A549	lung:	n/a	n/a
35	CTCF	chr16:12066000-12066150	HRE	kidney:	n/a	n/a
36	RAD21	chr16:12065950-12066307	A549	lung:	n/a	n/a
37	CTCF	chr16:12065980-12066130	HVMF	connective:	n/a	n/a
38	CTCF	chr16:12066000-12066150	HepG2	liver:	n/a	n/a
39	CTCF	chr16:12066000-12066150	NHEK	skin:	n/a	n/a
40	SMC3	chr16:12065917-12066270	Hela-S3	cervix:	n/a	n/a
41	RAD21	chr16:12065965-12066205	H1-hESC	embryonic stem cell:	n/a	n/a
42	CTCF	chr16:12066040-12066190	BE2_C	brain:	n/a	n/a
43	ARID3A	chr16:12065959-12066292	HepG2	liver:	n/a	n/a
44	RAD21	chr16:12065986-12066170	GM12878	blood:	n/a	n/a
45	CTCF	chr16:12065980-12066130	HUVEC	blood vessel:	n/a	n/a
46	CTCF	chr16:12066000-12066150	NB4	blood:	n/a	n/a
47	CTCF	chr16:12066000-12066150	Hela-S3	cervix:	n/a	n/a
48	CTCF	chr16:12066043-12066129	Gliobla	brain:	n/a	n/a
49	POLR2A	chr16:12066053-12066615	GM12892	blood:	n/a	n/a
50	CTCF	chr16:12066000-12066150	GM12866	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:12063141..12068645-chr16:12069062..12072358,5	K562	blood:
2	chr16:12065230..12068702-chr16:12068954..12072616,4	MCF-7	breast:
3	chr16:12054203..12056050-chr16:12064634..12067549,2	MCF-7	breast:
4	chr16:12065745..12068664-chr16:12070251..12071956,2	K562	blood:
5	chr16:12065623..12066578-chr16:12161490..12162277,2	K562	blood:

No data

Variant related genes	Relation type
UBL5P4	TF binding region
ENSG00000269121	TF binding region
SNX29	TF binding region
ENSG00000260488	Chromatin interaction
ENSG00000234719	Chromatin interaction
ENSG00000048471	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10451099	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10468251	0.89[ASN][1000 genomes]
rs10852346	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11075035	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11075036	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11075037	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11570137	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11570173	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11864397	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12597378	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12926535	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12927256	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12928141	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12929036	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12929544	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12929852	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12933691	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12934607	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2017662	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35965279	0.82[ASN][1000 genomes]
rs365423	0.87[ASN][1000 genomes]
rs366262	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3743591	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3851002	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3851003	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs387871	0.88[ASN][1000 genomes]
rs3916675	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57171695	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58398910	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59320000	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6498255	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6498256	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6498257	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7189024	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7190636	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7191310	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7195514	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs72782778	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs8046211	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8047277	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8051343	0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs8055129	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8060611	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8062121	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9922422	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9922795	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042660	chr16:11846873-12110435	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv571458	chr16:11925008-12087282	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	nsv905347	chr16:12010444-12243329	Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv1043096	chr16:12013915-12840769	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv482458	chr16:12014925-12145977	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	nsv1043959	chr16:12039346-12285269	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
7	nsv962195	chr16:12053526-12071576	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12052200-12067600	Weak transcription	Osteobl	bone
2	chr16:12052200-12069600	Weak transcription	Primary T cells from cord blood	blood
3	chr16:12052400-12066800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr16:12054600-12069400	Weak transcription	Stomach Smooth Muscle	stomach
5	chr16:12056800-12069400	Weak transcription	Primary hematopoietic stem cells	blood
6	chr16:12057000-12067600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr16:12057000-12067600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr16:12058800-12067600	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr16:12058800-12069400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr16:12059000-12069400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr16:12059000-12069400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr16:12059000-12069400	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr16:12059200-12069400	Weak transcription	Adipose Nuclei	Adipose
14	chr16:12059400-12067200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr16:12059400-12069400	Weak transcription	Brain Cingulate Gyrus	brain
16	chr16:12059400-12069400	Weak transcription	NHEK	skin
17	chr16:12059400-12069600	Weak transcription	Brain Anterior Caudate	brain
18	chr16:12059400-12069600	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr16:12059400-12069600	Weak transcription	Brain Substantia Nigra	brain
20	chr16:12059400-12069600	Weak transcription	HSMMtube	muscle
21	chr16:12059600-12069400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr16:12059600-12069600	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr16:12059800-12069600	Weak transcription	Fetal Thymus	thymus
24	chr16:12060000-12067600	Weak transcription	Left Ventricle	heart
25	chr16:12061600-12069400	Weak transcription	Pancreas	Pancrea
26	chr16:12061800-12069200	Weak transcription	K562	blood
27	chr16:12061800-12069600	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr16:12062000-12067000	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr16:12063200-12067200	Weak transcription	Fetal Muscle Trunk	muscle
30	chr16:12063600-12069400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr16:12064200-12069600	Weak transcription	Colonic Mucosa	Colon
32	chr16:12064400-12068800	Strong transcription	Fetal Stomach	stomach
33	chr16:12064600-12067000	Weak transcription	Fetal Muscle Leg	muscle
34	chr16:12064800-12068400	Strong transcription	Thymus	Thymus
35	chr16:12065000-12069600	Weak transcription	Spleen	Spleen
36	chr16:12065200-12068600	Strong transcription	Primary B cells from peripheral blood	blood
37	chr16:12065200-12069600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr16:12065400-12066200	Strong transcription	GM12878-XiMat	blood
39	chr16:12065400-12068400	Strong transcription	Fetal Intestine Small	intestine
40	chr16:12065400-12069400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr16:12065600-12066400	Strong transcription	Fetal Intestine Large	intestine
42	chr16:12065600-12069400	Weak transcription	Primary B cells from cord blood	blood
43	chr16:12065800-12066200	Enhancers	Placenta	Placenta
44	chr16:12065800-12068400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr16:12065800-12069400	Weak transcription	Colon Smooth Muscle	Colon
46	chr16:12065800-12069600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr16:12066000-12066400	Flanking Active TSS	HepG2	liver
48	chr16:12066000-12067600	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr16:12066000-12069400	Weak transcription	Brain Germinal Matrix	brain

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