Variant report

Variant	rs13330819
Chromosome Location	chr16:58767868-58767869
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:58663099..58664824-chr16:58766372..58767972,2	K562	blood:
2	chr16:58717131..58719457-chr16:58766765..58768365,2	K562	blood:
3	chr16:58662850..58664824-chr16:58766472..58768052,2	K562	blood:
4	chr16:58748643..58751250-chr16:58767584..58769117,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SETD6-1	chr16:58767816-58767886	ENSG00000245768.2

Variant related genes	Relation type
ENSG00000125107	Chromatin interaction
ENSG00000103042	Chromatin interaction
ENSG00000125166	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs28446209	1.00[AFR][1000 genomes]
rs28675359	0.91[AFR][1000 genomes]
rs9929476	1.00[AFR][1000 genomes]
rs9936177	1.00[AFR][1000 genomes]
rs9938536	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758427	chr16:58579005-58876037	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	esv2758650	chr16:58579005-58876037	ZNF genes & repeats Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers 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	22 gene(s)	inside rSNPs	diseases
3	nsv1065296	chr16:58738198-58837859	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	n/a
4	nsv1065269	chr16:58743487-58972224	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:58765800-58768600	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr16:58766400-58768200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr16:58766600-58768000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr16:58766600-58768000	Active TSS	Right Atrium	heart
5	chr16:58766600-58768400	Active TSS	H1 Cell Line	embryonic stem cell
6	chr16:58766600-58768400	Active TSS	Left Ventricle	heart
7	chr16:58766600-58768400	Active TSS	Rectal Smooth Muscle	rectum
8	chr16:58766800-58768200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr16:58766800-58768400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr16:58766800-58768400	Active TSS	Aorta	Aorta
11	chr16:58766800-58768400	Active TSS	Brain Germinal Matrix	brain
12	chr16:58766800-58768400	Active TSS	GM12878-XiMat	blood
13	chr16:58766800-58768600	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr16:58766800-58768600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr16:58766800-58768600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr16:58767000-58768000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
17	chr16:58767000-58768200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
18	chr16:58767000-58768200	Flanking Active TSS	Adipose Nuclei	Adipose
19	chr16:58767000-58768200	Active TSS	Esophagus	oesophagus
20	chr16:58767000-58768200	Active TSS	Skeletal Muscle Female	skeletal muscle
21	chr16:58767000-58768400	Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr16:58767000-58768400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr16:58767000-58768400	Active TSS	iPS-18 Cell Line	embryonic stem cell
24	chr16:58767000-58768400	Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr16:58767000-58768400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
26	chr16:58767000-58768400	Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr16:58767000-58768400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr16:58767000-58768400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr16:58767000-58768400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr16:58767000-58768400	Active TSS	Colon Smooth Muscle	Colon
31	chr16:58767000-58768400	Active TSS	Fetal Intestine Large	intestine
32	chr16:58767000-58768400	Active TSS	Fetal Kidney	kidney
33	chr16:58767000-58768400	Active TSS	Fetal Muscle Trunk	muscle
34	chr16:58767000-58768400	Active TSS	Pancreas	Pancrea
35	chr16:58767000-58768400	Active TSS	A549	lung
36	chr16:58767000-58768400	Active TSS	HMEC	breast
37	chr16:58767000-58768400	Active TSS	K562	blood
38	chr16:58767000-58768600	Active TSS	H9 Cell Line	embryonic stem cell
39	chr16:58767000-58768600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr16:58767000-58768600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr16:58767000-58768600	Active TSS	Pancreatic Islets	Pancreatic Islet
42	chr16:58767000-58768600	Active TSS	Psoas Muscle	Psoas
43	chr16:58767000-58768600	Active TSS	Right Ventricle	heart
44	chr16:58767000-58768600	Active TSS	NHLF	lung
45	chr16:58767200-58768000	Flanking Active TSS	Primary B cells from cord blood	blood
46	chr16:58767200-58768200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
47	chr16:58767200-58768400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr16:58767200-58768400	Active TSS	HUES48 Cell Line	embryonic stem cell
49	chr16:58767200-58768400	Active TSS	HUES64 Cell Line	embryonic stem cell
50	chr16:58767200-58768400	Active TSS	iPS-15b Cell Line	embryonic stem cell

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