Variant report

Variant	rs71392077
Chromosome Location	chr16:75427651-75427652
allele	AAAAAAAAATGTGGGGCCA/GTGGGGCCG
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:75426315..75428728-chr16:75451819..75454335,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 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	esv2422358	chr16:75381762-75456763	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	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
6	nsv525232	chr16:75402361-75439132	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv525466	chr16:75402361-75439132	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	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
9	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
10	nsv1062023	chr16:75427013-75461626	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
11	esv1257299	chr16:75427650-75427671	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75406000-75453400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr16:75407200-75454200	Weak transcription	Stomach Mucosa	stomach
3	chr16:75409200-75445400	Weak transcription	Colonic Mucosa	Colon
4	chr16:75412200-75428000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr16:75412600-75446000	Weak transcription	Brain Substantia Nigra	brain
6	chr16:75415400-75443200	Weak transcription	Small Intestine	intestine
7	chr16:75415600-75453400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr16:75421000-75429800	Strong transcription	Primary T cells from cord blood	blood
9	chr16:75421200-75429200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr16:75421200-75429200	Strong transcription	Fetal Muscle Trunk	muscle
11	chr16:75421400-75429000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr16:75421400-75429200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr16:75421400-75429200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr16:75421400-75429200	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr16:75421400-75429200	Strong transcription	HUES6 Cell Line	embryonic stem cell
16	chr16:75421400-75429200	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr16:75421400-75429200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr16:75421400-75429200	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr16:75421600-75430000	Strong transcription	HepG2	liver
20	chr16:75422200-75429400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr16:75422600-75429800	Strong transcription	Dnd41	blood
22	chr16:75423000-75429200	Strong transcription	Primary T helper cells PMA-I stimulated	--
23	chr16:75423000-75429400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr16:75423400-75429400	Strong transcription	Fetal Thymus	thymus
25	chr16:75423600-75429400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr16:75423600-75429400	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr16:75423800-75429000	Strong transcription	Cortex derived primary cultured neurospheres	brain
28	chr16:75423800-75429200	Strong transcription	Primary B cells from peripheral blood	blood
29	chr16:75423800-75429200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr16:75423800-75429200	Strong transcription	NH-A	brain
31	chr16:75423800-75429400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr16:75424000-75427800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr16:75424000-75429200	Strong transcription	H1 Cell Line	embryonic stem cell
34	chr16:75424000-75429200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr16:75424000-75429200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr16:75424000-75429400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr16:75424000-75429400	Strong transcription	Fetal Intestine Small	intestine
38	chr16:75424200-75429000	Strong transcription	Skeletal Muscle Female	skeletal muscle
39	chr16:75424200-75429200	Strong transcription	Primary B cells from cord blood	blood
40	chr16:75424200-75429200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr16:75424400-75429000	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr16:75424400-75429200	Strong transcription	Osteobl	bone
43	chr16:75424600-75429200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr16:75424600-75429200	Strong transcription	Rectal Mucosa Donor 31	rectum
45	chr16:75424600-75435600	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr16:75424800-75428000	Weak transcription	Aorta	Aorta
47	chr16:75424800-75429200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr16:75424800-75429600	Strong transcription	Fetal Muscle Leg	muscle
49	chr16:75424800-75430000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr16:75425000-75429000	Strong transcription	Primary monocytes fromperipheralblood	blood

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