Variant report

Variant	rs11866017
Chromosome Location	chr16:30534092-30534093
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:30533190..30536551-chr16:30566417..30568142,3	K562	blood:
2	chr16:30521353..30524779-chr16:30533679..30536842,3	K562	blood:
3	chr16:30453602..30463168-chr16:30533711..30543502,36	MCF-7	breast:
4	chr16:30533016..30535468-chr16:30641770..30643758,2	K562	blood:
5	chr16:30485159..30487195-chr16:30532329..30534499,2	K562	blood:
6	chr16:30505908..30508207-chr16:30532104..30535939,4	K562	blood:
7	chr16:30458013..30461181-chr16:30533597..30537188,4	K562	blood:
8	chr16:30412061..30413626-chr16:30533151..30535430,2	K562	blood:
9	chr16:30521063..30523608-chr16:30533658..30535271,2	MCF-7	breast:
10	chr16:30533019..30535927-chr16:30549702..30551377,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000005844	Chromatin interaction
ENSG00000179918	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11860431	1.00[AMR][1000 genomes]
rs11865041	1.00[AMR][1000 genomes]
rs11867032	0.83[AMR][1000 genomes]
rs17839547	1.00[AMR][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	nsv532531	chr16:30370550-30581820	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	113 gene(s)	inside rSNPs	diseases
2	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
3	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
4	nsv905726	chr16:30528272-30546488	Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30487000-30534800	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr16:30490800-30534600	Strong transcription	Thymus	Thymus
3	chr16:30492200-30534600	Strong transcription	Fetal Thymus	thymus
4	chr16:30503600-30534600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr16:30505000-30534400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr16:30508800-30535600	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr16:30510800-30535800	Weak transcription	Right Atrium	heart
8	chr16:30514400-30534600	Strong transcription	Primary B cells from peripheral blood	blood
9	chr16:30516800-30535600	Weak transcription	Brain Hippocampus Middle	brain
10	chr16:30518200-30537200	Weak transcription	Brain Substantia Nigra	brain
11	chr16:30519800-30536400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr16:30522400-30536000	Weak transcription	Rectal Smooth Muscle	rectum
13	chr16:30524800-30535600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr16:30524800-30537200	Weak transcription	Dnd41	blood
15	chr16:30527600-30537000	Weak transcription	Primary hematopoietic stem cells	blood
16	chr16:30528400-30535600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr16:30529200-30535800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr16:30530200-30534800	Weak transcription	Fetal Stomach	stomach
19	chr16:30530200-30537400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr16:30531200-30535600	Weak transcription	Placenta	Placenta
21	chr16:30531200-30537200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr16:30531400-30535600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr16:30531400-30537200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr16:30532000-30534600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr16:30532000-30535400	Weak transcription	Fetal Brain Female	brain
26	chr16:30532000-30536800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr16:30532000-30537200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr16:30532200-30535200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr16:30532200-30535200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr16:30532200-30537200	Weak transcription	NHEK	skin
31	chr16:30532400-30537200	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr16:30532600-30535600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr16:30532600-30537200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr16:30532800-30534400	Enhancers	Right Ventricle	heart
35	chr16:30532800-30534600	Enhancers	Fetal Intestine Large	intestine
36	chr16:30532800-30535600	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr16:30532800-30535600	Weak transcription	Osteobl	bone
38	chr16:30532800-30537000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr16:30532800-30537400	Enhancers	Liver	Liver
40	chr16:30533000-30534400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr16:30533000-30534400	Enhancers	Fetal Intestine Small	intestine
42	chr16:30533000-30534600	Enhancers	Rectal Mucosa Donor 31	rectum
43	chr16:30533200-30534400	Enhancers	A549	lung
44	chr16:30533200-30535200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr16:30533200-30535600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr16:30533400-30535200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr16:30533400-30535800	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr16:30533400-30537000	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr16:30533600-30534200	Flanking Active TSS	HepG2	liver
50	chr16:30533600-30534600	Weak transcription	Brain Germinal Matrix	brain

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