Variant report

Variant	rs560033221
Chromosome Location	chr16:72112117-72112118
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	chr16:72111604..72113887-chr16:72117079..72119613,2	K562	blood:
2	chr16:72105312..72108135-chr16:72111951..72113970,2	K562	blood:

Variant related genes	Relation type
ENSG00000260252	Chromatin interaction
ENSG00000261701	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948468	chr16:71727571-72651914	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
2	nsv833273	chr16:71971805-72152854	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	esv2758430	chr16:71976344-72274347	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	esv2758654	chr16:71976344-72274347	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
5	nsv428329	chr16:71976344-72274347	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
6	nsv1060983	chr16:72074832-72791629	Genic enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
7	nsv534588	chr16:72078262-72287230	ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	nsv1060804	chr16:72078486-72791629	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
9	nsv906896	chr16:72083318-72114002	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	n/a
10	nsv9456	chr16:72084761-72118322	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	n/a
11	esv1811716	chr16:72087405-72114457	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	n/a
12	esv1812265	chr16:72087405-72114457	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	n/a
13	esv1814276	chr16:72088169-72112372	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	n/a
14	nsv978167	chr16:72088322-72118671	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	n/a
15	esv1811283	chr16:72088397-72112220	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	n/a
16	esv11219	chr16:72088500-72112297	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	n/a
17	esv1809939	chr16:72088633-72112220	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	n/a
18	esv1808086	chr16:72088669-72128767	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	n/a
19	esv1812516	chr16:72091543-72114002	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a
20	esv3386036	chr16:72092851-72113249	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a
21	esv3443812	chr16:72093651-72112649	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a
22	esv1814859	chr16:72096633-72116467	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a
23	nsv514814	chr16:72109587-72112435	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
24	esv3343168	chr16:72111500-72128436	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:72090200-72118400	Weak transcription	Lung	lung
2	chr16:72093200-72118000	Weak transcription	Fetal Muscle Trunk	muscle
3	chr16:72093800-72118400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr16:72093800-72118400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr16:72096800-72118200	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr16:72097200-72118000	Weak transcription	Primary B cells from peripheral blood	blood
7	chr16:72102800-72118400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr16:72104200-72117800	Weak transcription	Thymus	Thymus
9	chr16:72104800-72117800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr16:72106400-72118200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr16:72106600-72126400	Weak transcription	Small Intestine	intestine
12	chr16:72106800-72117800	Weak transcription	Fetal Intestine Small	intestine
13	chr16:72106800-72118000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr16:72107000-72118200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr16:72107000-72118200	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr16:72107600-72117800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr16:72108000-72118000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr16:72108000-72118000	Weak transcription	Psoas Muscle	Psoas
19	chr16:72108000-72126400	Weak transcription	Fetal Heart	heart
20	chr16:72108200-72118000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr16:72108200-72118000	Weak transcription	Adipose Nuclei	Adipose
22	chr16:72108200-72118000	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr16:72108200-72118400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr16:72108200-72118400	Weak transcription	Fetal Brain Female	brain
25	chr16:72108400-72117800	Weak transcription	Primary B cells from cord blood	blood
26	chr16:72108400-72118400	Weak transcription	Brain Anterior Caudate	brain
27	chr16:72108400-72118400	Weak transcription	Fetal Muscle Leg	muscle
28	chr16:72108400-72118400	Weak transcription	Right Ventricle	heart
29	chr16:72108400-72118600	Weak transcription	Colon Smooth Muscle	Colon
30	chr16:72108400-72119000	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr16:72108600-72117800	Weak transcription	Brain Angular Gyrus	brain
32	chr16:72108600-72118400	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr16:72108600-72118400	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr16:72108600-72118400	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr16:72108800-72117800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr16:72108800-72118200	Weak transcription	Brain Substantia Nigra	brain
37	chr16:72108800-72118400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr16:72108800-72118600	Weak transcription	K562	blood
39	chr16:72108800-72118800	Weak transcription	Gastric	stomach
40	chr16:72109000-72117800	Weak transcription	Brain Hippocampus Middle	brain
41	chr16:72109000-72118200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr16:72109000-72118400	Weak transcription	Right Atrium	heart
43	chr16:72109000-72118600	Weak transcription	Brain Cingulate Gyrus	brain
44	chr16:72109000-72122600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr16:72109600-72118400	Weak transcription	Aorta	Aorta
46	chr16:72109600-72118400	Weak transcription	Pancreas	Pancrea
47	chr16:72109600-72118600	Weak transcription	Stomach Mucosa	stomach
48	chr16:72109800-72118000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr16:72110000-72118200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr16:72110000-72118600	Weak transcription	HSMM	muscle

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