Variant report

Variant	rs74015016
Chromosome Location	chr16:30593444-30593445
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:30578114..30586052-chr16:30592731..30598818,24	MCF-7	breast:
2	chr16:30583050..30589314-chr16:30592212..30597849,11	K562	blood:
3	chr16:30545917..30548270-chr16:30592742..30594990,2	K562	blood:

Variant related genes	Relation type
ENSG00000261459	Chromatin interaction
ENSG00000235560	Chromatin interaction
ENSG00000229809	Chromatin interaction
ENSG00000239791	Chromatin interaction
ENSG00000169955	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11859342	1.00[EUR][1000 genomes]
rs11862680	1.00[EUR][1000 genomes]
rs11865829	1.00[EUR][1000 genomes]
rs34007971	1.00[EUR][1000 genomes]
rs34326943	1.00[EUR][1000 genomes]
rs34874849	1.00[EUR][1000 genomes]
rs35512295	1.00[EUR][1000 genomes]
rs35977794	1.00[EUR][1000 genomes]
rs58223373	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58223875	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60048183	1.00[EUR][1000 genomes]
rs60393747	1.00[AMR][1000 genomes]
rs60584290	1.00[EUR][1000 genomes]
rs61745791	1.00[EUR][1000 genomes]
rs6565206	1.00[EUR][1000 genomes]
rs7191097	1.00[EUR][1000 genomes]
rs7196067	1.00[EUR][1000 genomes]
rs74015017	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74015019	1.00[EUR][1000 genomes]
rs8044106	1.00[EUR][1000 genomes]
rs8051182	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8061986	1.00[EUR][1000 genomes]
rs8062907	1.00[EUR][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	nsv1062456	chr16:30442166-31253997	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
2	nsv542898	chr16:30442166-31253997	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
3	nsv905727	chr16:30564526-30689696	Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
4	nsv542899	chr16:30575260-30612385	Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30584000-30593800	Weak transcription	Psoas Muscle	Psoas
2	chr16:30584000-30596000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr16:30584000-30596000	Weak transcription	Fetal Kidney	kidney
4	chr16:30584000-30596000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr16:30584000-30596000	Weak transcription	Rectal Smooth Muscle	rectum
6	chr16:30584000-30596000	Weak transcription	NHDF-Ad	bronchial
7	chr16:30584000-30596200	Weak transcription	Right Atrium	heart
8	chr16:30584200-30593800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr16:30584200-30596000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr16:30584200-30596000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr16:30584200-30596000	Weak transcription	NH-A	brain
12	chr16:30584400-30596000	Weak transcription	Primary hematopoietic stem cells	blood
13	chr16:30584400-30596200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr16:30584800-30596200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr16:30585000-30594200	Weak transcription	Fetal Heart	heart
16	chr16:30587200-30595800	Strong transcription	Fetal Intestine Small	intestine
17	chr16:30587400-30593600	Weak transcription	Hela-S3	cervix
18	chr16:30587800-30595600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr16:30587800-30595600	Strong transcription	Fetal Stomach	stomach
20	chr16:30588000-30595600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr16:30588400-30595400	Strong transcription	Fetal Muscle Trunk	muscle
22	chr16:30588400-30595400	Strong transcription	Fetal Thymus	thymus
23	chr16:30588600-30601600	Weak transcription	HepG2	liver
24	chr16:30589200-30594800	Strong transcription	Ovary	ovary
25	chr16:30589200-30595200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr16:30590200-30595400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr16:30590200-30595600	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr16:30590400-30594600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr16:30590800-30593600	Weak transcription	Brain Substantia Nigra	brain
30	chr16:30591200-30596000	Weak transcription	HSMMtube	muscle
31	chr16:30591800-30595600	Strong transcription	Brain Anterior Caudate	brain
32	chr16:30592000-30595000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr16:30592000-30596000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr16:30592200-30593800	Strong transcription	Primary B cells from cord blood	blood
35	chr16:30592200-30595400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr16:30592200-30595600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr16:30592400-30595200	Strong transcription	H9 Cell Line	embryonic stem cell
38	chr16:30592400-30595200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr16:30592400-30595400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr16:30592400-30595400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr16:30592600-30594800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
42	chr16:30592600-30595000	Strong transcription	Lung	lung
43	chr16:30592600-30595200	Strong transcription	Sigmoid Colon	Sigmoid Colon
44	chr16:30592600-30595400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr16:30592600-30595600	Strong transcription	Adipose Nuclei	Adipose
46	chr16:30592800-30593600	Strong transcription	Primary T cells fromperipheralblood	blood
47	chr16:30592800-30593800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
48	chr16:30592800-30593800	Genic enhancers	Duodenum Mucosa	Duodenum
49	chr16:30592800-30594000	Strong transcription	Fetal Intestine Large	intestine
50	chr16:30592800-30594200	Genic enhancers	Stomach Smooth Muscle	stomach

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