Variant report

Variant	rs11642818
Chromosome Location	chr16:81726584-81726585
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	POLR2A	chr16:81726348-81727122	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr16:81726442-81730059	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr16:81726429-81732366	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr16:81726538-81727505	HUVEC	blood vessel:	n/a	n/a
5	POLR2A	chr16:81726170-81726777	K562	blood:	n/a	n/a

Variant related genes	Relation type
CMIP	TF binding region

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11150400	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11644382	0.81[CEU][hapmap];0.83[JPT][hapmap]
rs11646472	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11647444	0.92[CEU][hapmap];0.90[CHB][hapmap];0.81[CHD][hapmap];0.94[GIH][hapmap];0.88[MEX][hapmap];0.88[TSI][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2873480	0.86[CHD][hapmap];0.84[GIH][hapmap];0.90[JPT][hapmap]
rs3751857	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4421970	0.90[JPT][hapmap]
rs4888165	0.91[ASW][hapmap];0.86[CHD][hapmap];0.80[GIH][hapmap];0.90[JPT][hapmap];0.87[YRI][hapmap]
rs4888167	0.84[CEU][hapmap];0.86[CHD][hapmap];0.90[GIH][hapmap];0.90[JPT][hapmap];0.91[TSI][hapmap];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4889362	0.82[MEX][hapmap]
rs4889364	0.83[AFR][1000 genomes]
rs4889365	0.81[AFR][1000 genomes]
rs4889366	0.91[JPT][hapmap];0.87[YRI][hapmap]
rs57869567	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs67084911	0.80[AMR][1000 genomes]
rs68056614	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72831113	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs74031237	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs74031241	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs753108	0.84[GIH][hapmap];0.90[JPT][hapmap];0.82[AMR][1000 genomes]
rs8055386	0.83[AMR][1000 genomes];0.83[EUR][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	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
2	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
3	nsv907011	chr16:81639190-81757252	Genic enhancers Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81688400-81736800	Weak transcription	NHDF-Ad	bronchial
2	chr16:81713200-81727200	Weak transcription	NHLF	lung
3	chr16:81713200-81740600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr16:81713200-81744400	Weak transcription	Fetal Kidney	kidney
5	chr16:81713400-81726600	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr16:81715200-81726800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr16:81721600-81727000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr16:81721800-81748400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr16:81722000-81726800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr16:81722000-81738400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr16:81722200-81726800	Weak transcription	GM12878-XiMat	blood
12	chr16:81724000-81743400	Strong transcription	HepG2	liver
13	chr16:81724400-81745800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr16:81724600-81727200	Strong transcription	A549	lung
15	chr16:81724600-81727200	Strong transcription	Hela-S3	cervix
16	chr16:81724600-81727600	Strong transcription	Spleen	Spleen
17	chr16:81724600-81733000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr16:81724600-81734000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr16:81724600-81743400	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr16:81724600-81746000	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr16:81724800-81726800	Strong transcription	Rectal Mucosa Donor 29	rectum
22	chr16:81724800-81726800	Genic enhancers	Stomach Smooth Muscle	stomach
23	chr16:81724800-81727800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr16:81724800-81727800	Strong transcription	Fetal Thymus	thymus
25	chr16:81724800-81728200	Genic enhancers	Stomach Mucosa	stomach
26	chr16:81724800-81728400	Genic enhancers	Lung	lung
27	chr16:81724800-81732000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr16:81724800-81736400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr16:81724800-81740600	Strong transcription	Gastric	stomach
30	chr16:81724800-81741400	Strong transcription	Liver	Liver
31	chr16:81724800-81743200	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr16:81724800-81743400	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr16:81724800-81743400	Strong transcription	Primary B cells from peripheral blood	blood
34	chr16:81724800-81743400	Strong transcription	Dnd41	blood
35	chr16:81724800-81744400	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr16:81724800-81744600	Strong transcription	Primary T cells from cord blood	blood
37	chr16:81725000-81727400	Genic enhancers	Placenta Amnion	Placenta Amnion
38	chr16:81725000-81727800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr16:81725000-81728200	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr16:81725000-81728800	Strong transcription	Primary hematopoietic stem cells	blood
41	chr16:81725000-81728800	Strong transcription	Fetal Intestine Large	intestine
42	chr16:81725000-81731600	Genic enhancers	Adipose Nuclei	Adipose
43	chr16:81725000-81733200	Strong transcription	Primary T helper cells PMA-I stimulated	--
44	chr16:81725000-81744400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr16:81725000-81744600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr16:81725000-81746000	Strong transcription	Thymus	Thymus
47	chr16:81725200-81727000	Genic enhancers	HUVEC	blood vessel
48	chr16:81725200-81727600	Strong transcription	Duodenum Smooth Muscle	Duodenum
49	chr16:81725200-81727800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr16:81725200-81727800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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