Variant report

Variant	rs34114657
Chromosome Location	chr16:30584430-30584431
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:30584104-30584479	HepG2	liver:	n/a	n/a

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:30566138..30571776-chr16:30580042..30586389,14	K562	blood:
2	chr16:30345231..30348064-chr16:30583285..30585199,2	MCF-7	breast:
3	chr16:30581816..30584865-chr16:30620426..30623412,3	MCF-7	breast:
4	chr16:30581443..30584852-chr16:30667885..30670811,3	MCF-7	breast:
5	chr16:30580685..30586607-chr16:30594028..30599624,16	MCF-7	breast:
6	chr16:30545719..30548048-chr16:30583510..30586476,3	MCF-7	breast:
7	chr16:30567962..30575227-chr16:30576961..30586002,21	MCF-7	breast:
8	chr16:30520336..30522151-chr16:30582062..30584438,2	MCF-7	breast:
9	chr16:30536816..30539624-chr16:30583341..30586431,3	K562	blood:
10	chr16:30583091..30585681-chr16:30668404..30671562,3	K562	blood:
11	chr16:30441006..30444833-chr16:30580955..30584682,5	MCF-7	breast:
12	chr16:30581984..30585990-chr16:30619553..30622837,7	MCF-7	breast:
13	chr16:30454042..30458733-chr16:30581507..30584845,9	MCF-7	breast:
14	chr16:30537304..30542390-chr16:30581808..30586488,7	K562	blood:
15	chr16:30578114..30586052-chr16:30592731..30598818,24	MCF-7	breast:
16	chr16:30583050..30589314-chr16:30592212..30597849,11	K562	blood:
17	chr16:30101487..30103615-chr16:30581761..30584517,2	K562	blood:
18	chr16:30534593..30542459-chr16:30576363..30586049,22	MCF-7	breast:
19	chr16:30544644..30549200-chr16:30579756..30585399,7	K562	blood:
20	chr16:30545798..30549380-chr16:30578344..30585176,6	K562	blood:
21	chr16:30567520..30571513-chr16:30580042..30586732,13	K562	blood:
22	chr16:30455559..30458329-chr16:30583217..30585158,2	MCF-7	breast:
23	chr16:30535183..30540797-chr16:30579748..30584975,15	MCF-7	breast:

No data

Variant related genes	Relation type
ZNF688	TF binding region
ENSG00000169957	Chromatin interaction
ENSG00000183604	Chromatin interaction
ENSG00000197162	Chromatin interaction
ENSG00000169951	Chromatin interaction
ENSG00000179918	Chromatin interaction
ENSG00000261459	Chromatin interaction
ENSG00000261588	Chromatin interaction
ENSG00000169955	Chromatin interaction
ENSG00000149922	Chromatin interaction
ENSG00000260167	Chromatin interaction
ENSG00000005844	Chromatin interaction
ENSG00000235560	Chromatin interaction
ENSG00000156853	Chromatin interaction
ENSG00000156860	Chromatin interaction
ENSG00000179958	Chromatin interaction
ENSG00000260869	Chromatin interaction

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

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

rs_ID	r²[population]
rs12918327	0.89[EUR][1000 genomes]
rs34699226	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35661204	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs55875685	0.83[ASN][1000 genomes]
rs6565192	0.98[ASN][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:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30582000-30584800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr16:30582200-30584800	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr16:30583600-30584800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr16:30583800-30585200	Flanking Active TSS	Dnd41	blood
5	chr16:30583800-30585200	Flanking Active TSS	K562	blood
6	chr16:30583800-30588200	Weak transcription	Ovary	ovary
7	chr16:30583800-30590600	Weak transcription	Left Ventricle	heart
8	chr16:30583800-30592600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr16:30583800-30593000	Weak transcription	Aorta	Aorta
10	chr16:30583800-30593000	Weak transcription	Esophagus	oesophagus
11	chr16:30584000-30584800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr16:30584000-30584800	Enhancers	Fetal Brain Male	brain
13	chr16:30584000-30585000	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr16:30584000-30585000	Flanking Active TSS	HepG2	liver
15	chr16:30584000-30586200	Weak transcription	Stomach Mucosa	stomach
16	chr16:30584000-30587200	Weak transcription	Fetal Intestine Small	intestine
17	chr16:30584000-30588000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr16:30584000-30588200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr16:30584000-30589400	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr16:30584000-30589400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr16:30584000-30589400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr16:30584000-30589400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr16:30584000-30589600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr16:30584000-30589600	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr16:30584000-30589600	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr16:30584000-30589600	Weak transcription	Osteobl	bone
27	chr16:30584000-30589800	Weak transcription	Brain Cingulate Gyrus	brain
28	chr16:30584000-30589800	Weak transcription	Colon Smooth Muscle	Colon
29	chr16:30584000-30589800	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr16:30584000-30590200	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr16:30584000-30590200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr16:30584000-30590200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr16:30584000-30590200	Weak transcription	Brain Substantia Nigra	brain
34	chr16:30584000-30590200	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr16:30584000-30590400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr16:30584000-30590400	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr16:30584000-30590400	Weak transcription	HSMMtube	muscle
38	chr16:30584000-30590600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr16:30584000-30592600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr16:30584000-30592600	Weak transcription	Lung	lung
41	chr16:30584000-30592800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr16:30584000-30592800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr16:30584000-30592800	Weak transcription	NHEK	skin
44	chr16:30584000-30593000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr16:30584000-30593000	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr16:30584000-30593000	Weak transcription	Right Ventricle	heart
47	chr16:30584000-30593000	Weak transcription	NHLF	lung
48	chr16:30584000-30593200	Weak transcription	Brain Angular Gyrus	brain
49	chr16:30584000-30593800	Weak transcription	Psoas Muscle	Psoas
50	chr16:30584000-30596000	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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