Variant report

Variant	rs558444521
Chromosome Location	chr17:16570408-16570409
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3446844	chr17:15654843-16572246	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
2	nsv1063764	chr17:16171649-16662914	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	120 gene(s)	inside rSNPs	diseases
3	nsv1058448	chr17:16389870-16926287	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
4	esv2758442	chr17:16527056-16817437	Active TSS Bivalent Enhancer ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	esv2758676	chr17:16527056-16817437	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv427991	chr17:16527056-16817437	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
7	nsv907720	chr17:16557606-16758204	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
8	nsv978372	chr17:16559570-16587380	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	nsv962373	chr17:16568919-16576327	Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16569600-16571000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr17:16569800-16570600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
3	chr17:16570000-16570600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr17:16570000-16570600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
5	chr17:16570000-16570600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
6	chr17:16570000-16570600	Enhancers	Liver	Liver
7	chr17:16570000-16570600	Bivalent/Poised TSS	Fetal Intestine Small	intestine
8	chr17:16570000-16570800	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
9	chr17:16570000-16570800	Flanking Bivalent TSS/Enh	Psoas Muscle	Psoas
10	chr17:16570000-16570800	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
11	chr17:16570000-16570800	Flanking Bivalent TSS/Enh	HMEC	breast
12	chr17:16570000-16571000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
13	chr17:16570000-16571000	Active TSS	H9 Cell Line	embryonic stem cell
14	chr17:16570000-16571000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
15	chr17:16570000-16571000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
16	chr17:16570000-16571000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
17	chr17:16570000-16571000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr17:16570000-16571000	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
19	chr17:16570000-16571000	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr17:16570000-16571000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
21	chr17:16570000-16571000	Bivalent/Poised TSS	Cortex derived primary cultured neurospheres	brain
22	chr17:16570000-16571000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr17:16570000-16571000	Active TSS	Brain Angular Gyrus	brain
24	chr17:16570000-16571000	Active TSS	Brain Anterior Caudate	brain
25	chr17:16570000-16571000	Bivalent/Poised TSS	Brain Germinal Matrix	brain
26	chr17:16570000-16571000	Active TSS	Brain Inferior Temporal Lobe	brain
27	chr17:16570000-16571000	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
28	chr17:16570000-16571000	Active TSS	Brain Substantia Nigra	brain
29	chr17:16570000-16571000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
30	chr17:16570000-16571000	Bivalent/Poised TSS	Fetal Brain Female	brain
31	chr17:16570000-16571000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
32	chr17:16570000-16571000	Active TSS	Rectal Smooth Muscle	rectum
33	chr17:16570000-16571000	Bivalent/Poised TSS	HepG2	liver
34	chr17:16570000-16571000	Bivalent/Poised TSS	HSMM	muscle
35	chr17:16570000-16571000	Bivalent/Poised TSS	Osteobl	bone
36	chr17:16570000-16571400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
37	chr17:16570000-16571400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
38	chr17:16570000-16572200	Active TSS	A549	lung
39	chr17:16570200-16570600	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr17:16570200-16570600	Bivalent/Poised TSS	Fetal Intestine Large	intestine
41	chr17:16570200-16570800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
42	chr17:16570200-16570800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr17:16570200-16570800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr17:16570200-16570800	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr17:16570200-16570800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr17:16570200-16570800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr17:16570200-16570800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr17:16570200-16570800	Flanking Active TSS	Adipose Nuclei	Adipose
49	chr17:16570200-16570800	Active TSS	Colon Smooth Muscle	Colon
50	chr17:16570200-16570800	Flanking Active TSS	Gastric	stomach

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