Variant report

Variant	rs11647444
Chromosome Location	chr16:81716880-81716881
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:81709931..81712989-chr16:81713808..81717096,4	K562	blood:
2	chr16:81715171..81717714-chr16:81719737..81721979,2	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1017238	0.83[GIH][hapmap]
rs11150400	0.87[EUR][1000 genomes]
rs11642818	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]
rs11644382	0.81[CEU][hapmap];0.80[AMR][1000 genomes]
rs11646472	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3751857	0.86[EUR][1000 genomes]
rs4888167	0.84[GIH][hapmap];0.88[TSI][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4889362	0.82[MEX][hapmap];0.80[AMR][1000 genomes]
rs4889363	0.81[AMR][1000 genomes]
rs57869567	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs67084911	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs68056614	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72831113	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs74031237	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs74031241	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8055386	0.91[AMR][1000 genomes];0.91[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	chr16:81682400-81722400	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr16:81683800-81721800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr16:81684400-81722200	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr16:81684400-81722200	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr16:81686600-81721600	Weak transcription	NH-A	brain
6	chr16:81686600-81725000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr16:81688400-81736800	Weak transcription	NHDF-Ad	bronchial
8	chr16:81689800-81722200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr16:81689800-81722400	Strong transcription	Fetal Intestine Large	intestine
10	chr16:81691200-81721200	Strong transcription	Liver	Liver
11	chr16:81695200-81717000	Strong transcription	NHEK	skin
12	chr16:81698800-81721400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr16:81699200-81725600	Weak transcription	Osteobl	bone
14	chr16:81699400-81726000	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr16:81701000-81725200	Weak transcription	Aorta	Aorta
16	chr16:81701200-81722200	Strong transcription	Fetal Intestine Small	intestine
17	chr16:81702200-81721800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr16:81702200-81722200	Strong transcription	HepG2	liver
19	chr16:81702600-81721600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr16:81703200-81722200	Strong transcription	Primary B cells from peripheral blood	blood
21	chr16:81703400-81719000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr16:81703800-81717000	Strong transcription	Fetal Thymus	thymus
23	chr16:81703800-81717200	Strong transcription	Thymus	Thymus
24	chr16:81704200-81724600	Weak transcription	Hela-S3	cervix
25	chr16:81706600-81725200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr16:81708000-81721200	Weak transcription	GM12878-XiMat	blood
27	chr16:81709200-81717400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr16:81711000-81717000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr16:81713000-81718000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr16:81713200-81717000	Strong transcription	Spleen	Spleen
31	chr16:81713200-81719600	Weak transcription	Fetal Heart	heart
32	chr16:81713200-81721000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr16:81713200-81721400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr16:81713200-81721400	Weak transcription	K562	blood
35	chr16:81713200-81721600	Weak transcription	HSMM	muscle
36	chr16:81713200-81721600	Weak transcription	HSMMtube	muscle
37	chr16:81713200-81722400	Strong transcription	A549	lung
38	chr16:81713200-81724800	Weak transcription	Stomach Mucosa	stomach
39	chr16:81713200-81725200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr16:81713200-81726000	Weak transcription	Fetal Brain Male	brain
41	chr16:81713200-81726200	Weak transcription	Small Intestine	intestine
42	chr16:81713200-81727200	Weak transcription	NHLF	lung
43	chr16:81713200-81740600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr16:81713200-81744400	Weak transcription	Fetal Kidney	kidney
45	chr16:81713400-81717000	Strong transcription	Rectal Mucosa Donor 31	rectum
46	chr16:81713400-81717800	Weak transcription	HUVEC	blood vessel
47	chr16:81713400-81722000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr16:81713400-81725600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr16:81713400-81726600	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr16:81713800-81721400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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