Variant report

Variant	rs71134715
Chromosome Location	chr16:75466324-75466325
allele	-/CTGCAGTCCCAGCTAC
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:75465910..75469192-chr16:75654368..75658890,6	K562	blood:
2	chr16:75440851..75444308-chr16:75465493..75468084,3	MCF-7	breast:
3	chr16:75465991..75469604-chr16:75494524..75499996,12	MCF-7	breast:
4	chr16:75465449..75469390-chr16:75587663..75590801,6	K562	blood:
5	chr16:75466173..75469509-chr16:75680461..75683235,3	K562	blood:
6	chr16:75284907..75286555-chr16:75465225..75468013,2	MCF-7	breast:
7	chr16:75466075..75467662-chr16:75587828..75590094,2	MCF-7	breast:
8	chr16:75466031..75468931-chr16:75549812..75551653,2	K562	blood:
9	chr16:75279924..75282284-chr16:75466090..75468408,2	K562	blood:
10	chr16:75465566..75468619-chr16:75548282..75552307,4	MCF-7	breast:
11	chr16:75464062..75469543-chr16:75495268..75500189,14	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000166848	Chromatin interaction
ENSG00000065457	Chromatin interaction
ENSG00000261717	Chromatin interaction
ENSG00000065427	Chromatin interaction
ENSG00000205084	Chromatin interaction
ENSG00000262583	Chromatin interaction
ENSG00000166822	Chromatin interaction
ENSG00000252122	Chromatin interaction
ENSG00000050820	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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	nsv916502	chr16:74845880-75732365	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
2	nsv931939	chr16:75261354-75765025	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
3	nsv1065995	chr16:75373756-75626027	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
4	nsv1063718	chr16:75395969-75608071	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
5	esv2758432	chr16:75419614-75576971	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
6	esv2758657	chr16:75419614-75576971	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
7	esv32560	chr16:75465765-75471455	Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
8	esv1657246	chr16:75466323-75466339	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75432400-75466600	Weak transcription	Aorta	Aorta
2	chr16:75446600-75466400	Weak transcription	Brain Angular Gyrus	brain
3	chr16:75446600-75466400	Weak transcription	Right Ventricle	heart
4	chr16:75446800-75466400	Weak transcription	Fetal Brain Female	brain
5	chr16:75446800-75466400	Weak transcription	HSMM	muscle
6	chr16:75447000-75466400	Weak transcription	Liver	Liver
7	chr16:75453600-75466400	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr16:75453800-75466400	Weak transcription	Psoas Muscle	Psoas
9	chr16:75453800-75466600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr16:75455600-75466400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr16:75455600-75466400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr16:75455600-75466400	Weak transcription	Primary B cells from cord blood	blood
13	chr16:75455600-75466400	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr16:75455600-75466400	Weak transcription	NH-A	brain
15	chr16:75455800-75466400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr16:75455800-75466400	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr16:75455800-75466400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr16:75455800-75466400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr16:75455800-75466400	Weak transcription	Fetal Lung	lung
20	chr16:75455800-75466400	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr16:75455800-75466400	Weak transcription	A549	lung
22	chr16:75460600-75466400	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr16:75460600-75466400	Weak transcription	NHDF-Ad	bronchial
24	chr16:75460600-75466400	Weak transcription	Osteobl	bone
25	chr16:75460800-75466400	Weak transcription	NHLF	lung
26	chr16:75462000-75466400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr16:75463800-75466400	Enhancers	Primary T cells fromperipheralblood	blood
28	chr16:75464200-75466400	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr16:75464400-75466600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr16:75464600-75466400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr16:75465000-75466400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr16:75465000-75466400	Enhancers	Fetal Brain Male	brain
33	chr16:75465000-75466400	Enhancers	Fetal Muscle Trunk	muscle
34	chr16:75465200-75466400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr16:75465200-75466400	Weak transcription	Brain Hippocampus Middle	brain
36	chr16:75465200-75466400	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr16:75465200-75466600	Weak transcription	Esophagus	oesophagus
38	chr16:75465400-75466400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr16:75465400-75466400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr16:75465400-75466400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr16:75465400-75466400	Enhancers	Brain Anterior Caudate	brain
42	chr16:75465400-75466400	Enhancers	Fetal Thymus	thymus
43	chr16:75465400-75466400	Enhancers	Right Atrium	heart
44	chr16:75465400-75466600	Enhancers	Primary B cells from peripheral blood	blood
45	chr16:75465400-75466600	Enhancers	Pancreas	Pancrea
46	chr16:75465400-75468600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr16:75465600-75466400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr16:75465600-75466400	Enhancers	Fetal Stomach	stomach
49	chr16:75465600-75466400	Enhancers	Thymus	Thymus
50	chr16:75465600-75466400	Weak transcription	Spleen	Spleen

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