Variant report

Variant	rs3813011
Chromosome Location	chr16:81966562-81966563
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	CTCF	chr16:81966445-81966592	MCF-7	breast:	n/a	chr16:81966554-81966567 chr16:81966507-81966528
2	CTCF	chr16:81966420-81966570	HCPEpiC	choroid plexus:	n/a	chr16:81966554-81966567 chr16:81966507-81966528
3	CTCF	chr16:81966463-81966615	K562	blood:	n/a	chr16:81966554-81966567 chr16:81966507-81966528
4	RAD21	chr16:81966409-81966624	HepG2	liver:	n/a	chr16:81966510-81966529
5	CTCF	chr16:81966436-81966591	NHEK	skin:	n/a	chr16:81966554-81966567 chr16:81966507-81966528
6	CTCF	chr16:81966480-81966630	HUVEC	blood vessel:	n/a	chr16:81966554-81966567 chr16:81966507-81966528
7	CTCF	chr16:81966420-81966570	HVMF	connective:	n/a	chr16:81966554-81966567 chr16:81966507-81966528
8	RAD21	chr16:81966371-81966676	H1-hESC	embryonic stem cell:	n/a	chr16:81966510-81966529
9	CTCF	chr16:81966480-81966630	HRPEpiC	eye:	n/a	chr16:81966554-81966567 chr16:81966507-81966528
10	CTCF	chr16:81966455-81966587	MCF-7	breast:	n/a	chr16:81966554-81966567 chr16:81966507-81966528
11	CTCF	chr16:81966456-81966596	MCF-7	breast:	n/a	chr16:81966554-81966567 chr16:81966507-81966528
12	CTCF	chr16:81966440-81966590	AG09319	gingival:	n/a	chr16:81966554-81966567 chr16:81966507-81966528
13	CTCF	chr16:81966436-81966611	MCF-7	breast:	n/a	chr16:81966554-81966567 chr16:81966507-81966528
14	CTCF	chr16:81966428-81966627	HUVEC	blood vessel:	n/a	chr16:81966554-81966567 chr16:81966507-81966528
15	CTCF	chr16:81966308-81966691	MCF-7	breast:	n/a	chr16:81966554-81966567 chr16:81966507-81966528
16	CTCF	chr16:81966465-81966567	Gliobla	brain:	n/a	chr16:81966554-81966567 chr16:81966507-81966528
17	CTCF	chr16:81966400-81966620	HepG2	liver:	n/a	chr16:81966554-81966567 chr16:81966507-81966528
18	CTCF	chr16:81966440-81966590	HMEC	breast:	n/a	chr16:81966554-81966567 chr16:81966507-81966528
19	CTCF	chr16:81966440-81966590	HCPEpiC	choroid plexus:	n/a	chr16:81966554-81966567 chr16:81966507-81966528
20	CTCF	chr16:81966460-81966610	MCF-7	breast:	n/a	chr16:81966554-81966567 chr16:81966507-81966528
21	CTCF	chr16:81966466-81966587	HepG2	liver:	n/a	chr16:81966554-81966567 chr16:81966507-81966528
22	POLR2A	chr16:81964714-81966605	GM12892	blood:	n/a	n/a
23	CTCF	chr16:81966450-81966582	MCF-7	breast:	n/a	chr16:81966554-81966567 chr16:81966507-81966528
24	CTCF	chr16:81966460-81966610	HBMEC	blood vessel:	n/a	chr16:81966554-81966567 chr16:81966507-81966528
25	CTCF	chr16:81966440-81966590	MCF-7	breast:	n/a	chr16:81966554-81966567 chr16:81966507-81966528
26	RAD21	chr16:81966257-81966719	H1-hESC	embryonic stem cell:	n/a	chr16:81966510-81966529 chr16:81966322-81966334
27	POLR2A	chr16:81966069-81966605	GM12892	blood:	n/a	n/a
28	CTCF	chr16:81966480-81966630	AG10803	skin:	n/a	chr16:81966554-81966567 chr16:81966507-81966528
29	CTCF	chr16:81966460-81966610	HEK293	kidney:	n/a	chr16:81966554-81966567 chr16:81966507-81966528
30	CTCF	chr16:81966440-81966590	SAEC	small airway:	n/a	chr16:81966554-81966567 chr16:81966507-81966528
31	CTCF	chr16:81966358-81966695	H1-hESC	embryonic stem cell:	n/a	chr16:81966554-81966567 chr16:81966507-81966528
32	CTCF	chr16:81966440-81966590	HCT-116	colon:	n/a	chr16:81966554-81966567 chr16:81966507-81966528
33	POLR2A	chr16:81966114-81966646	GM12878	blood:	n/a	n/a
34	CTCF	chr16:81966420-81966570	Hela-S3	cervix:	n/a	chr16:81966554-81966567 chr16:81966507-81966528
35	POLR2A	chr16:81966120-81966750	GM12891	blood:	n/a	n/a
36	CTCF	chr16:81966420-81966570	HepG2	liver:	n/a	chr16:81966554-81966567 chr16:81966507-81966528
37	CTCF	chr16:81966420-81966570	HUVEC	blood vessel:	n/a	chr16:81966554-81966567 chr16:81966507-81966528
38	RAD21	chr16:81966380-81966694	H1-hESC	embryonic stem cell:	n/a	chr16:81966510-81966529
39	CTCF	chr16:81966520-81966670	HVMF	connective:	n/a	chr16:81966554-81966567
40	POLR2A	chr16:81965159-81966598	GM12892	blood:	n/a	n/a
41	CTCF	chr16:81966448-81966597	H1-hESC	embryonic stem cell:	n/a	chr16:81966554-81966567 chr16:81966507-81966528
42	CTCF	chr16:81966460-81966610	HEEpiC	esophagus:	n/a	chr16:81966554-81966567 chr16:81966507-81966528
43	CTCF	chr16:81966440-81966590	HEEpiC	esophagus:	n/a	chr16:81966554-81966567 chr16:81966507-81966528
44	CTCF	chr16:81966460-81966610	AG10803	skin:	n/a	chr16:81966554-81966567 chr16:81966507-81966528

No.	Distal block	Cell Line	Cell type
1	chr16:81924097..81924636-chr16:81965965..81966937,2	MCF-7	breast:
2	chr16:81959537..81963642-chr16:81965973..81970581,4	K562	blood:
3	chr16:81923808..81924601-chr16:81966050..81966774,2	MCF-7	breast:

Variant related genes	Relation type
PLCG2	TF binding region

Extended variants
information (count: 2 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs7499440	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81920400-81982000	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr16:81924400-81970000	Weak transcription	Fetal Intestine Large	intestine
3	chr16:81925800-81992600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr16:81933000-81983600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr16:81934800-81971600	Weak transcription	Right Atrium	heart
6	chr16:81936000-81982000	Weak transcription	Gastric	stomach
7	chr16:81936000-81984600	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr16:81937000-81969800	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr16:81945000-81984600	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr16:81946200-81985200	Weak transcription	Rectal Smooth Muscle	rectum
11	chr16:81947000-81969200	Weak transcription	Pancreas	Pancrea
12	chr16:81950600-81982000	Strong transcription	GM12878-XiMat	blood
13	chr16:81951400-81971400	Weak transcription	Left Ventricle	heart
14	chr16:81952000-81982800	Strong transcription	Primary B cells from peripheral blood	blood
15	chr16:81952400-81983000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr16:81952600-81970600	Strong transcription	Spleen	Spleen
17	chr16:81952600-81981800	Strong transcription	Primary B cells from cord blood	blood
18	chr16:81952800-81973000	Strong transcription	Duodenum Mucosa	Duodenum
19	chr16:81952800-81984600	Strong transcription	Liver	Liver
20	chr16:81953000-81977400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr16:81954800-81991800	Weak transcription	Fetal Thymus	thymus
22	chr16:81955400-81970200	Weak transcription	Brain Substantia Nigra	brain
23	chr16:81956400-81971400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr16:81956400-81971600	Weak transcription	Fetal Kidney	kidney
25	chr16:81957000-81971200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr16:81959600-81983800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr16:81960000-81969800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr16:81960200-81966600	Strong transcription	Primary hematopoietic stem cells	blood
29	chr16:81960600-81982400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr16:81961600-81984600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr16:81962000-81966600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr16:81962600-81995800	Weak transcription	Small Intestine	intestine
33	chr16:81962800-81971200	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr16:81962800-81972600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr16:81962800-81983600	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr16:81963000-81971400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr16:81963000-81982000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr16:81963000-81984600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr16:81963600-81970600	Weak transcription	Esophagus	oesophagus
40	chr16:81963600-81979600	Weak transcription	Colonic Mucosa	Colon
41	chr16:81963600-81983200	Strong transcription	Primary neutrophils fromperipheralblood	blood
42	chr16:81963800-81969600	Weak transcription	Adipose Nuclei	Adipose
43	chr16:81963800-81969800	Weak transcription	Thymus	Thymus
44	chr16:81964600-81968000	Strong transcription	Lung	lung
45	chr16:81965000-81968200	Strong transcription	Fetal Intestine Small	intestine
46	chr16:81965600-81969800	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr16:81966000-81967400	Strong transcription	Placenta	Placenta
48	chr16:81966000-81967600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr16:81966200-81966800	Enhancers	Fetal Stomach	stomach

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