Variant report

Variant	rs557231203
Chromosome Location	chr16:69977317-69977318
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062171	chr16:69854267-70188585	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv542941	chr16:69854267-70188585	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv1059249	chr16:69854467-70188446	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv542942	chr16:69854467-70188446	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
5	esv2758428	chr16:69855122-70313222	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
6	esv2758652	chr16:69855122-70313222	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
7	esv1792580	chr16:69950347-70005207	Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
8	esv1801278	chr16:69951043-70050770	Enhancers Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
9	esv1829103	chr16:69951043-70050770	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
10	nsv1853	chr16:69962296-70268856	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
11	esv1824931	chr16:69968850-70230516	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
12	esv1829372	chr16:69968850-70230516	Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
13	esv1830874	chr16:69968850-70298988	Strong transcription Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
14	esv15512	chr16:69970836-70032614	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
15	esv2754644	chr16:69971965-70191118	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
16	esv1823631	chr16:69975086-70103765	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
17	nsv1058789	chr16:69976021-70180213	Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
18	nsv9452	chr16:69976026-70008199	Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
19	esv2762188	chr16:69976033-70281778	Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
20	nsv974827	chr16:69976311-70006059	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
21	nsv906824	chr16:69976479-70191333	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription 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 miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
22	nsv906825	chr16:69976479-70242125	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
23	nsv827716	chr16:69976588-70237575	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
24	esv1821617	chr16:69976907-70103765	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
25	esv2122554	chr16:69977113-69977562	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	inside rSNPs	diseases
26	esv3433420	chr16:69977211-69977479	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	inside rSNPs	diseases
27	esv3375486	chr16:69977307-69977370	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:69948200-69977400	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr16:69948400-69977400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr16:69957400-69977400	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr16:69959000-69977600	Strong transcription	Primary T cells from cord blood	blood
5	chr16:69964400-69977400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr16:69970800-69977400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr16:69970800-69978800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr16:69974600-69977400	Weak transcription	Ovary	ovary
9	chr16:69974600-69977400	Weak transcription	HSMMtube	muscle
10	chr16:69974600-69978000	Weak transcription	NH-A	brain
11	chr16:69974600-69986600	Weak transcription	HepG2	liver
12	chr16:69975000-69977600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr16:69975000-69985200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr16:69975200-69977400	Weak transcription	NHLF	lung
15	chr16:69975200-69978200	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr16:69975400-69977400	Genic enhancers	Duodenum Mucosa	Duodenum
17	chr16:69975400-69977600	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr16:69975400-69978200	Weak transcription	Stomach Smooth Muscle	stomach
19	chr16:69975400-69978400	Weak transcription	Small Intestine	intestine
20	chr16:69975600-69977400	Enhancers	Fetal Muscle Trunk	muscle
21	chr16:69975600-69977800	Weak transcription	Brain Angular Gyrus	brain
22	chr16:69975600-69977800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr16:69975600-69978600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr16:69975600-69985200	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr16:69975800-69977400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr16:69975800-69977400	Weak transcription	Brain Germinal Matrix	brain
27	chr16:69975800-69977600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr16:69975800-69977600	Weak transcription	Pancreas	Pancrea
29	chr16:69975800-69978200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr16:69976000-69977400	Weak transcription	Aorta	Aorta
31	chr16:69976000-69977600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr16:69976000-69977600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr16:69976000-69977600	Weak transcription	Osteobl	bone
34	chr16:69976000-69977800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr16:69976000-69978200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr16:69976000-69979400	Weak transcription	Lung	lung
37	chr16:69976000-69982200	Weak transcription	Brain Hippocampus Middle	brain
38	chr16:69976200-69977800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr16:69976200-69978000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr16:69976200-69978000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr16:69976200-69978600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr16:69976200-69979200	Weak transcription	Gastric	stomach
43	chr16:69976200-69984200	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr16:69976400-69977400	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr16:69976400-69977600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr16:69976400-69978000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr16:69976400-69978000	Weak transcription	Esophagus	oesophagus
48	chr16:69976400-69978000	Weak transcription	Thymus	Thymus
49	chr16:69976400-69978200	Enhancers	Fetal Muscle Leg	muscle
50	chr16:69976400-69978800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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