Variant report

Variant	rs55794634
Chromosome Location	chr16:30868064-30868065
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:30865944..30868816-chr16:30876902..30878907,2	MCF-7	breast:
2	chr16:30858636..30860732-chr16:30865792..30868221,2	MCF-7	breast:
3	chr16:30866357..30873992-chr16:30883788..30889320,16	MCF-7	breast:
4	chr16:30866900..30870320-chr16:30883342..30886355,3	MCF-7	breast:
5	chr16:30860894..30863329-chr16:30866893..30870535,3	K562	blood:
6	chr16:30866277..30869586-chr16:30933014..30934701,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000099364	Chromatin interaction
ENSG00000265991	Chromatin interaction
ENSG00000260083	Chromatin interaction
ENSG00000260852	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs55764844	1.00[AMR][1000 genomes]
rs56371701	1.00[AMR][1000 genomes]
rs59674151	1.00[AMR][1000 genomes]
rs60854012	1.00[AMR][1000 genomes]
rs74015013	1.00[AMR][1000 genomes]
rs74015021	1.00[AMR][1000 genomes]
rs74015027	1.00[AMR][1000 genomes]
rs74015028	1.00[AMR][1000 genomes]
rs74015042	1.00[AMR][1000 genomes]
rs74015052	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74015064	1.00[AMR][1000 genomes]
rs74015067	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062456	chr16:30442166-31253997	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
2	nsv542898	chr16:30442166-31253997	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
3	nsv1064134	chr16:30640293-31087327	Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	238 gene(s)	inside rSNPs	diseases
4	nsv905728	chr16:30642867-30928970	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	171 gene(s)	inside rSNPs	diseases
5	nsv905729	chr16:30642867-31247924	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	387 gene(s)	inside rSNPs	diseases
6	esv1825223	chr16:30669091-30971810	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
7	nsv431451	chr16:30682399-31340999	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
8	nsv905733	chr16:30796919-31004812	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	112 gene(s)	inside rSNPs	diseases
9	nsv869652	chr16:30799471-30951038	Bivalent Enhancer Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	70 gene(s)	inside rSNPs	diseases
10	nsv1060384	chr16:30802415-30878838	Flanking Active TSS Strong transcription Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
11	nsv833189	chr16:30819708-30960795	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	79 gene(s)	inside rSNPs	diseases
12	nsv833190	chr16:30845051-31007863	Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent/Poised 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 miRNA target site	105 gene(s)	inside rSNPs	diseases
13	nsv833191	chr16:30864242-31048051	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	115 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30845800-30884800	Weak transcription	Brain Germinal Matrix	brain
2	chr16:30846400-30883400	Weak transcription	Fetal Brain Female	brain
3	chr16:30846800-30885600	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr16:30856200-30885800	Weak transcription	NH-A	brain
5	chr16:30856400-30883400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr16:30856600-30869200	Weak transcription	HSMM	muscle
7	chr16:30856600-30883400	Weak transcription	Lung	lung
8	chr16:30856600-30885000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr16:30856800-30869600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr16:30856800-30871200	Weak transcription	Aorta	Aorta
11	chr16:30856800-30882400	Weak transcription	Brain Substantia Nigra	brain
12	chr16:30856800-30883400	Weak transcription	Pancreas	Pancrea
13	chr16:30856800-30883600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr16:30856800-30883600	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr16:30856800-30883600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr16:30856800-30885600	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr16:30856800-30885600	Weak transcription	Brain Cingulate Gyrus	brain
18	chr16:30856800-30885600	Weak transcription	Esophagus	oesophagus
19	chr16:30856800-30885600	Weak transcription	Spleen	Spleen
20	chr16:30856800-30885800	Weak transcription	Brain Angular Gyrus	brain
21	chr16:30857000-30868200	Weak transcription	Primary T cells from cord blood	blood
22	chr16:30857000-30868200	Weak transcription	Right Ventricle	heart
23	chr16:30857000-30869600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr16:30857000-30883200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr16:30857000-30883400	Weak transcription	Ovary	ovary
26	chr16:30857000-30883800	Weak transcription	Duodenum Mucosa	Duodenum
27	chr16:30857000-30885400	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr16:30857000-30885600	Weak transcription	Brain Hippocampus Middle	brain
29	chr16:30858800-30869400	Weak transcription	Psoas Muscle	Psoas
30	chr16:30858800-30869800	Weak transcription	HSMMtube	muscle
31	chr16:30858800-30885800	Weak transcription	NHDF-Ad	bronchial
32	chr16:30863600-30885600	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr16:30864400-30869800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr16:30864600-30868200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr16:30865400-30884400	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr16:30865400-30885800	Weak transcription	Fetal Kidney	kidney
37	chr16:30865600-30885400	Weak transcription	Stomach Smooth Muscle	stomach
38	chr16:30865600-30885600	Weak transcription	Adipose Nuclei	Adipose
39	chr16:30865800-30868400	Enhancers	Fetal Heart	heart
40	chr16:30865800-30882200	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr16:30866000-30870000	Weak transcription	Fetal Intestine Large	intestine
42	chr16:30866000-30885600	Weak transcription	Fetal Lung	lung
43	chr16:30866200-30869600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr16:30866400-30882400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr16:30866400-30883000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr16:30866400-30885600	Weak transcription	Brain Anterior Caudate	brain
47	chr16:30866600-30869600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr16:30866600-30881000	Weak transcription	Fetal Muscle Trunk	muscle
49	chr16:30866600-30884400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr16:30866600-30885600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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