Variant report

Variant	rs2966091
Chromosome Location	chr16:81534483-81534484
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:81534254..81537068-chr16:81537419..81539023,2	MCF-7	breast:
2	chr16:81477821..81480197-chr16:81532680..81534893,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000153815	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11641142	0.87[ASN][1000 genomes]
rs12920728	0.90[ASN][1000 genomes]
rs12932649	0.87[ASN][1000 genomes]
rs16955074	1.00[YRI][hapmap]
rs2317415	1.00[YRI][hapmap]
rs2925994	0.86[ASN][1000 genomes]
rs2925995	0.90[ASN][1000 genomes]
rs2927311	0.90[ASN][1000 genomes]
rs2966090	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35137323	0.84[ASN][1000 genomes]
rs4889326	0.90[ASN][1000 genomes]
rs4889327	0.86[ASN][1000 genomes]
rs66710707	0.87[ASN][1000 genomes]
rs7193307	0.87[ASN][1000 genomes]
rs8182218	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532569	chr16:80980356-81700149	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	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
3	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
4	nsv907010	chr16:81488893-81534790	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
5	nsv1057791	chr16:81515036-81644651	Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
6	nsv542993	chr16:81515036-81644651	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
7	nsv457576	chr16:81525637-81579433	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
8	nsv573360	chr16:81525637-81579433	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81506000-81546600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr16:81506600-81547000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr16:81522400-81537000	Enhancers	HUVEC	blood vessel
4	chr16:81525200-81536000	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr16:81525400-81554800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr16:81526800-81534800	Enhancers	Primary hematopoietic stem cells	blood
7	chr16:81527200-81534600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr16:81527200-81534800	Enhancers	Primary T cells fromperipheralblood	blood
9	chr16:81527200-81536000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr16:81527400-81535200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr16:81527400-81544000	Genic enhancers	A549	lung
12	chr16:81527600-81535000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
13	chr16:81527800-81538400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr16:81527800-81546600	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr16:81527800-81546600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr16:81528200-81547000	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr16:81528800-81534600	Weak transcription	Primary T cells from cord blood	blood
18	chr16:81528800-81536400	Weak transcription	Fetal Kidney	kidney
19	chr16:81529000-81544000	Weak transcription	Hela-S3	cervix
20	chr16:81529000-81546800	Weak transcription	Dnd41	blood
21	chr16:81529200-81547000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr16:81529800-81535600	Weak transcription	Fetal Brain Female	brain
23	chr16:81530400-81535600	Weak transcription	Fetal Brain Male	brain
24	chr16:81530400-81536400	Weak transcription	Fetal Heart	heart
25	chr16:81530800-81535200	Enhancers	Placenta	Placenta
26	chr16:81530800-81537200	Enhancers	Adipose Nuclei	Adipose
27	chr16:81531000-81534800	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr16:81531200-81535000	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr16:81531200-81545800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr16:81531600-81534600	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr16:81531600-81535600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr16:81531800-81536000	Enhancers	Primary neutrophils fromperipheralblood	blood
33	chr16:81532200-81534800	Strong transcription	Fetal Intestine Small	intestine
34	chr16:81532200-81536000	Weak transcription	Fetal Intestine Large	intestine
35	chr16:81532200-81538600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr16:81532400-81535800	Weak transcription	Thymus	Thymus
37	chr16:81532400-81537000	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr16:81532400-81539800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr16:81532400-81546800	Weak transcription	Gastric	stomach
40	chr16:81532600-81538600	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr16:81532600-81539200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr16:81532800-81535000	Enhancers	NHDF-Ad	bronchial
43	chr16:81532800-81535200	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr16:81532800-81535800	Weak transcription	Brain Germinal Matrix	brain
45	chr16:81532800-81546600	Weak transcription	Stomach Smooth Muscle	stomach
46	chr16:81533000-81534800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr16:81533000-81534800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr16:81533000-81535000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr16:81533000-81535000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr16:81533000-81535200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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