Variant report

Variant	rs35386949
Chromosome Location	chr16:81889563-81889564
allele	A/C
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	CTCF	chr16:81889417-81889749	H1-hESC	embryonic stem cell:	n/a	chr16:81889566-81889574 chr16:81889559-81889577
2	CTCF	chr16:81889480-81889630	K562	blood:	n/a	chr16:81889566-81889574 chr16:81889559-81889577
3	CTCF	chr16:81889500-81889650	GM12871	blood:	n/a	chr16:81889566-81889574 chr16:81889559-81889577
4	CTCF	chr16:81889520-81889670	BE2_C	brain:	n/a	chr16:81889566-81889574 chr16:81889559-81889577
5	CTCF	chr16:81889484-81889591	GM12892	blood:	n/a	chr16:81889566-81889574 chr16:81889559-81889577
6	CTCF	chr16:81889540-81889690	GM12872	blood:	n/a	chr16:81889566-81889574 chr16:81889559-81889577
7	CTCF	chr16:81889500-81889650	GM06990	blood:	n/a	chr16:81889566-81889574 chr16:81889559-81889577
8	CTCF	chr16:81889560-81889710	GM06990	blood:	n/a	chr16:81889566-81889574
9	CTCF	chr16:81889460-81889610	GM12873	blood:	n/a	chr16:81889566-81889574 chr16:81889559-81889577
10	CTCF	chr16:81889460-81889610	HEK293	kidney:	n/a	chr16:81889566-81889574 chr16:81889559-81889577
11	SMC3	chr16:81889467-81889703	GM12878	blood:	n/a	chr16:81889561-81889571
12	CTCF	chr16:81889420-81889570	HEK293	kidney:	n/a	n/a
13	CTCF	chr16:81889452-81889711	K562	blood:	n/a	chr16:81889566-81889574 chr16:81889559-81889577
14	CTCF	chr16:81889540-81889690	GM12873	blood:	n/a	chr16:81889566-81889574 chr16:81889559-81889577
15	CTCF	chr16:81889420-81889570	GM12873	blood:	n/a	n/a
16	CTCF	chr16:81889460-81889610	HepG2	liver:	n/a	chr16:81889566-81889574 chr16:81889559-81889577
17	CTCF	chr16:81889420-81889570	GM12872	blood:	n/a	n/a
18	CTCF	chr16:81889480-81889630	GM12875	blood:	n/a	chr16:81889566-81889574 chr16:81889559-81889577
19	CTCF	chr16:81889420-81889570	GM12864	blood:	n/a	n/a
20	CTCF	chr16:81889440-81889590	GM12872	blood:	n/a	chr16:81889566-81889574 chr16:81889559-81889577
21	CTCF	chr16:81889483-81889577	GM19239	blood:	n/a	chr16:81889566-81889574 chr16:81889559-81889577
22	CTCF	chr16:81889485-81889636	K562	blood:	n/a	chr16:81889566-81889574 chr16:81889559-81889577
23	CTCF	chr16:81889440-81889590	GM12875	blood:	n/a	chr16:81889566-81889574 chr16:81889559-81889577
24	RAD21	chr16:81889354-81889747	H1-hESC	embryonic stem cell:	n/a	chr16:81889561-81889575
25	CTCF	chr16:81889480-81889630	GM12874	blood:	n/a	chr16:81889566-81889574 chr16:81889559-81889577
26	CTCF	chr16:81889464-81889657	GM19238	blood:	n/a	chr16:81889566-81889574 chr16:81889559-81889577
27	CTCF	chr16:81889495-81889656	GM10266	blood:	n/a	chr16:81889566-81889574 chr16:81889559-81889577
28	CTCF	chr16:81889481-81889619	MCF-7	breast:	n/a	chr16:81889566-81889574 chr16:81889559-81889577
29	RAD21	chr16:81889469-81889604	GM12878	blood:	n/a	chr16:81889561-81889575
30	CTCF	chr16:81889420-81889570	GM12871	blood:	n/a	n/a
31	RAD21	chr16:81889403-81889630	HepG2	liver:	n/a	chr16:81889561-81889575
32	RAD21	chr16:81889245-81889670	H1-hESC	embryonic stem cell:	n/a	chr16:81889561-81889575
33	CTCF	chr16:81889549-81889573	MCF-7	breast:	n/a	n/a
34	RAD21	chr16:81889415-81889717	GM12878	blood:	n/a	chr16:81889561-81889575
35	CTCF	chr16:81889472-81889617	HepG2	liver:	n/a	chr16:81889566-81889574 chr16:81889559-81889577
36	RAD21	chr16:81889385-81889761	H1-hESC	embryonic stem cell:	n/a	chr16:81889561-81889575
37	CTCF	chr16:81889440-81889590	NB4	blood:	n/a	chr16:81889566-81889574 chr16:81889559-81889577
38	CTCF	chr16:81889477-81889637	GM12878	blood:	n/a	chr16:81889566-81889574 chr16:81889559-81889577
39	CTCF	chr16:81889458-81889650	GM12891	blood:	n/a	chr16:81889566-81889574 chr16:81889559-81889577
40	CTCF	chr16:81889460-81889610	GM12869	blood:	n/a	chr16:81889566-81889574 chr16:81889559-81889577
41	POLR2A	chr16:81889035-81890199	GM12891	blood:	n/a	n/a
42	CTCF	chr16:81889403-81889711	GM12878	blood:	n/a	chr16:81889566-81889574 chr16:81889559-81889577
43	CTCF	chr16:81889480-81889630	MCF-7	breast:	n/a	chr16:81889566-81889574 chr16:81889559-81889577
44	CTCF	chr16:81889480-81889630	GM12878	blood:	n/a	chr16:81889566-81889574 chr16:81889559-81889577
45	CTCF	chr16:81889509-81889586	MCF-7	breast:	n/a	chr16:81889566-81889574 chr16:81889559-81889577
46	CTCF	chr16:81889521-81889620	HepG2	liver:	n/a	chr16:81889566-81889574 chr16:81889559-81889577
47	CTCF	chr16:81889444-81889657	H1-hESC	embryonic stem cell:	n/a	chr16:81889566-81889574 chr16:81889559-81889577
48	CTCF	chr16:81889473-81889658	GM19240	blood:	n/a	chr16:81889566-81889574 chr16:81889559-81889577

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:81771673..81772257-chr16:81889054..81889638,2	MCF-7	breast:

Variant related genes	Relation type
PLCG2	TF binding region
ENSG00000261218	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1143686	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12443578	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs12446549	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12446576	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs12446621	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs12447177	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs12917936	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12917955	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12922252	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12926118	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12930443	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12930760	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12931199	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12931725	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12932333	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs28668056	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs34107670	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35554443	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4072683	0.90[ASN][1000 genomes]
rs4072828	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4072830	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4072831	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs41309272	0.90[ASN][1000 genomes]
rs4522412	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55829397	0.93[ASN][1000 genomes]
rs55856197	0.88[ASN][1000 genomes]
rs56188311	0.83[ASN][1000 genomes]
rs7184243	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7185362	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7186146	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7188868	0.81[ASN][1000 genomes]
rs7191743	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7192115	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7192266	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7193477	0.83[ASN][1000 genomes]
rs7500467	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv573365	chr16:81804972-81975892	Strong transcription Bivalent/Poised TSS Weak transcription ZNF genes & repeats Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv1065088	chr16:81878481-81953248	Enhancers ZNF genes & repeats Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81866800-81898600	Weak transcription	Right Atrium	heart
2	chr16:81871200-81897200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr16:81876200-81918200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr16:81877800-81890400	Genic enhancers	Primary B cells from peripheral blood	blood
5	chr16:81880000-81911200	Weak transcription	Pancreas	Pancrea
6	chr16:81880400-81908200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr16:81882800-81897200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr16:81884400-81897200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr16:81886000-81889600	Weak transcription	Right Ventricle	heart
10	chr16:81886200-81894400	Weak transcription	Small Intestine	intestine
11	chr16:81886400-81892800	Strong transcription	GM12878-XiMat	blood
12	chr16:81886400-81896400	Strong transcription	Primary B cells from cord blood	blood
13	chr16:81886600-81892400	Weak transcription	Placenta	Placenta
14	chr16:81886600-81894600	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr16:81887400-81894800	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr16:81887600-81897000	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr16:81887600-81901800	Weak transcription	Fetal Kidney	kidney
18	chr16:81887800-81897400	Weak transcription	Rectal Smooth Muscle	rectum
19	chr16:81887800-81899000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr16:81888000-81890200	Strong transcription	Duodenum Mucosa	Duodenum
21	chr16:81888000-81894000	Weak transcription	Liver	Liver
22	chr16:81888000-81894200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr16:81888000-81896800	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr16:81888200-81897600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr16:81888400-81889600	Strong transcription	Fetal Intestine Small	intestine
26	chr16:81889000-81893200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr16:81889000-81893200	Strong transcription	Primary hematopoietic stem cells	blood
28	chr16:81889200-81890000	Strong transcription	Thymus	Thymus
29	chr16:81889200-81890200	Strong transcription	Adipose Nuclei	Adipose
30	chr16:81889200-81890200	ZNF genes & repeats	Lung	lung
31	chr16:81889200-81896200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr16:81889400-81889600	Genic enhancers	Spleen	Spleen
33	chr16:81889400-81890200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr16:81889400-81896000	Strong transcription	Primary neutrophils fromperipheralblood	blood
35	chr16:81889400-81896400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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