Variant report

Variant	rs16975835
Chromosome Location	chr16:75589071-75589072
allele	A/G
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:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:75588984..75589674-chr5:149829113..149829684,2	Hela-S3	cervix:
2	chr16:75587108..75590001-chr17:56735204..56737947,2	MCF-7	breast:
3	chr16:75588622..75597419-chr16:75598326..75606239,14	K562	blood:
4	chr16:75588082..75590325-chr16:77223299..77225155,3	K562	blood:
5	chr16:75496580..75498737-chr16:75588829..75590831,2	MCF-7	breast:
6	chr16:75588035..75589877-chr16:75656645..75658476,2	K562	blood:
7	chr16:75588861..75589599-chr5:43121516..43122217,2	Hela-S3	cervix:
8	chr16:75568229..75570112-chr16:75587872..75589519,2	K562	blood:
9	chr16:75549686..75552508-chr16:75588605..75590350,2	MCF-7	breast:
10	chr16:75586208..75590870-chr16:75596068..75600585,8	K562	blood:
11	chr16:75574449..75576989-chr16:75588011..75589806,2	K562	blood:
12	chr16:75465449..75469390-chr16:75587663..75590801,6	K562	blood:
13	chr16:75587953..75591056-chr16:75597056..75601894,6	MCF-7	breast:
14	chr16:75549723..75552104-chr16:75587869..75590374,4	MCF-7	breast:
15	chr16:75588964..75589766-chr4:169931437..169932407,2	Hela-S3	cervix:
16	chr16:75587027..75591762-chr16:75651045..75658145,7	K562	blood:
17	chr16:75564094..75567077-chr16:75588072..75589709,2	K562	blood:
18	chr16:75466075..75467662-chr16:75587828..75590094,2	MCF-7	breast:
19	chr16:75588411..75591308-chr16:75680950..75683486,5	K562	blood:
20	chr16:75574262..75576234-chr16:75588612..75590836,2	MCF-7	breast:
21	chr16:75587491..75591972-chr16:75596703..75602966,17	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000034713	Chromatin interaction
ENSG00000202077	Chromatin interaction
ENSG00000172262	Chromatin interaction
ENSG00000103111	Chromatin interaction
ENSG00000261717	Chromatin interaction
ENSG00000135702	Chromatin interaction
ENSG00000065457	Chromatin interaction
ENSG00000166848	Chromatin interaction
ENSG00000153774	Chromatin interaction
ENSG00000164587	Chromatin interaction
ENSG00000262583	Chromatin interaction
ENSG00000166822	Chromatin interaction
ENSG00000065427	Chromatin interaction
ENSG00000205084	Chromatin interaction
ENSG00000251445	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs16975847	1.00[EUR][1000 genomes]
rs2242408	0.93[AFR][1000 genomes]
rs2453141	0.91[AFR][1000 genomes]
rs2550883	0.91[AFR][1000 genomes]
rs2550884	0.91[AFR][1000 genomes]
rs2550888	0.93[AFR][1000 genomes]
rs2738795	0.86[AFR][1000 genomes]
rs28571860	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916502	chr16:74845880-75732365	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
2	nsv931939	chr16:75261354-75765025	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
3	nsv1065995	chr16:75373756-75626027	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
4	nsv1063718	chr16:75395969-75608071	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
5	nsv525955	chr16:75473332-75628345	Strong transcription Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
6	nsv457521	chr16:75487758-75603925	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
7	nsv572979	chr16:75487758-75603925	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
8	nsv532561	chr16:75519574-75636977	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
9	nsv870450	chr16:75538457-75591359	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	41 gene(s)	inside rSNPs	diseases
10	nsv906929	chr16:75569739-75594918	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75551200-75589200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr16:75564200-75589200	Weak transcription	Lung	lung
3	chr16:75578400-75589200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr16:75578400-75589200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr16:75578400-75589200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr16:75578600-75589200	Weak transcription	Esophagus	oesophagus
7	chr16:75578600-75589200	Weak transcription	Left Ventricle	heart
8	chr16:75584400-75589200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr16:75584600-75589200	Weak transcription	Stomach Mucosa	stomach
10	chr16:75584600-75589200	Weak transcription	Spleen	Spleen
11	chr16:75588400-75590600	Active TSS	Brain Anterior Caudate	brain
12	chr16:75588600-75589200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
13	chr16:75588600-75589400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr16:75588600-75589800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr16:75588600-75590200	Active TSS	GM12878-XiMat	blood
16	chr16:75588600-75590400	Active TSS	K562	blood
17	chr16:75588600-75590400	Active TSS	NH-A	brain
18	chr16:75588600-75590600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr16:75588600-75590600	Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr16:75588600-75590600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
21	chr16:75588600-75590600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr16:75588600-75590600	Active TSS	Brain Germinal Matrix	brain
23	chr16:75588600-75590600	Active TSS	Brain Inferior Temporal Lobe	brain
24	chr16:75588600-75590800	Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr16:75588800-75589200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr16:75588800-75589200	Active TSS	Colonic Mucosa	Colon
27	chr16:75588800-75589200	Active TSS	Fetal Intestine Large	intestine
28	chr16:75588800-75589200	Active TSS	Fetal Muscle Leg	muscle
29	chr16:75588800-75589200	Active TSS	Rectal Mucosa Donor 29	rectum
30	chr16:75588800-75589200	Active TSS	HMEC	breast
31	chr16:75588800-75589400	Active TSS	Fetal Muscle Trunk	muscle
32	chr16:75588800-75589400	Active TSS	Stomach Smooth Muscle	stomach
33	chr16:75588800-75589800	Flanking Active TSS	Duodenum Mucosa	Duodenum
34	chr16:75588800-75590000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
35	chr16:75588800-75590000	Flanking Active TSS	Adipose Nuclei	Adipose
36	chr16:75588800-75590000	Flanking Active TSS	HUVEC	blood vessel
37	chr16:75588800-75590200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr16:75588800-75590200	Active TSS	Aorta	Aorta
39	chr16:75588800-75590400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr16:75588800-75590400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr16:75588800-75590400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr16:75588800-75590400	Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr16:75588800-75590400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr16:75588800-75590400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr16:75588800-75590400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr16:75588800-75590400	Active TSS	Brain Angular Gyrus	brain
47	chr16:75588800-75590400	Active TSS	Brain Hippocampus Middle	brain
48	chr16:75588800-75590400	Active TSS	Brain Substantia Nigra	brain
49	chr16:75588800-75590400	Active TSS	Duodenum Smooth Muscle	Duodenum
50	chr16:75588800-75590400	Active TSS	Fetal Brain Male	brain

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