Variant report

Variant	rs111556798
Chromosome Location	chr16:75528729-75528730
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	chr16:75527053..75529439-chr16:75537012..75541443,4	K562	blood:

Variant related genes	Relation type
ENSG00000262583	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:22 , 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	nsv525955	chr16:75473332-75628345	Strong transcription Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
8	nsv457521	chr16:75487758-75603925	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
9	nsv572979	chr16:75487758-75603925	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
10	esv3485939	chr16:75497453-75550284	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
11	esv3485940	chr16:75497453-75550284	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
12	nsv572980	chr16:75505046-75549885	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
13	esv3313995	chr16:75512166-75566404	Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
14	esv3313996	chr16:75512166-75566404	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
15	nsv532561	chr16:75519574-75636977	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
16	nsv572981	chr16:75521030-75581160	Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
17	nsv1059777	chr16:75522954-75572713	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
18	nsv516675	chr16:75528511-75572012	Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
19	nsv906914	chr16:75528511-75573884	Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
20	nsv906915	chr16:75528511-75574729	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
21	nsv906916	chr16:75528511-75579233	Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
22	nsv906917	chr16:75528511-75581160	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75526200-75529000	Weak transcription	A549	lung
2	chr16:75526800-75531600	Weak transcription	Hela-S3	cervix
3	chr16:75528000-75528800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr16:75528000-75529200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr16:75528200-75528800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
6	chr16:75528200-75528800	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
7	chr16:75528200-75528800	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
8	chr16:75528200-75529000	Active TSS	Psoas Muscle	Psoas
9	chr16:75528200-75529200	Enhancers	Lung	lung
10	chr16:75528200-75529200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
11	chr16:75528200-75529200	Flanking Bivalent TSS/Enh	HepG2	liver
12	chr16:75528200-75529400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr16:75528200-75529400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr16:75528200-75529400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr16:75528200-75529400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr16:75528200-75529400	Active TSS	Brain Angular Gyrus	brain
17	chr16:75528200-75529400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
18	chr16:75528200-75529600	Active TSS	H9 Cell Line	embryonic stem cell
19	chr16:75528200-75529600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr16:75528400-75528800	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr16:75528400-75528800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr16:75528400-75528800	Bivalent Enhancer	Primary B cells from cord blood	blood
23	chr16:75528400-75528800	Bivalent Enhancer	Primary hematopoietic stem cells	blood
24	chr16:75528400-75528800	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr16:75528400-75528800	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
26	chr16:75528400-75528800	Bivalent Enhancer	Fetal Lung	lung
27	chr16:75528400-75529000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
28	chr16:75528400-75529000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr16:75528400-75529000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
30	chr16:75528400-75529000	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
31	chr16:75528400-75529200	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr16:75528400-75529200	Enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr16:75528400-75529200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr16:75528400-75529200	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
35	chr16:75528400-75529200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
36	chr16:75528400-75529200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
37	chr16:75528400-75529200	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
38	chr16:75528400-75529200	Flanking Active TSS	Right Ventricle	heart
39	chr16:75528400-75529200	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
40	chr16:75528400-75529400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr16:75528400-75529400	Active TSS	HUES48 Cell Line	embryonic stem cell
42	chr16:75528400-75529400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
43	chr16:75528400-75529400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
44	chr16:75528400-75529400	Active TSS	Aorta	Aorta
45	chr16:75528400-75529400	Active TSS	Brain Substantia Nigra	brain
46	chr16:75528400-75529400	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
47	chr16:75528400-75529400	Enhancers	Pancreas	Pancrea
48	chr16:75528400-75529400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
49	chr16:75528400-75529400	Flanking Active TSS	HMEC	breast
50	chr16:75528400-75529400	Bivalent/Poised TSS	NHEK	skin

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