Variant report

Variant	rs246135
Chromosome Location	chr16:69476697-69476698
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:69472640..69477581-chr16:69477709..69482572,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000261527	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11860154	0.93[AFR][1000 genomes]
rs153057	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs165970	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs246145	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58148393	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8055929	0.81[AMR][1000 genomes]
rs9929547	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064808	chr16:69271190-69552951	Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv542940	chr16:69271190-69552951	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv431514	chr16:69428599-69581699	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:69459200-69478000	Weak transcription	Aorta	Aorta
2	chr16:69459400-69477800	Weak transcription	Right Ventricle	heart
3	chr16:69459400-69500600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr16:69459600-69499000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr16:69459800-69477000	Weak transcription	HSMMtube	muscle
6	chr16:69459800-69478800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr16:69463200-69477800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr16:69463600-69478000	Weak transcription	Esophagus	oesophagus
9	chr16:69465200-69478000	Weak transcription	Ovary	ovary
10	chr16:69465600-69477800	Weak transcription	Colon Smooth Muscle	Colon
11	chr16:69465800-69477200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr16:69465800-69477200	Weak transcription	Brain Substantia Nigra	brain
13	chr16:69466000-69477200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr16:69466000-69481000	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr16:69466200-69477000	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr16:69466200-69480800	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr16:69466200-69482600	Weak transcription	Brain Germinal Matrix	brain
18	chr16:69466200-69496600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr16:69466400-69477600	Weak transcription	NHLF	lung
20	chr16:69466400-69478000	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr16:69466600-69477200	Weak transcription	NH-A	brain
22	chr16:69466600-69477400	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr16:69466800-69477800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr16:69467000-69486000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr16:69467000-69486200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr16:69467600-69477800	Weak transcription	Stomach Smooth Muscle	stomach
27	chr16:69467800-69477000	Weak transcription	K562	blood
28	chr16:69467800-69477000	Weak transcription	Osteobl	bone
29	chr16:69467800-69477800	Weak transcription	Rectal Smooth Muscle	rectum
30	chr16:69467800-69478000	Weak transcription	Colonic Mucosa	Colon
31	chr16:69467800-69478000	Weak transcription	Fetal Muscle Leg	muscle
32	chr16:69467800-69480600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr16:69467800-69480800	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr16:69468000-69477000	Weak transcription	NHDF-Ad	bronchial
35	chr16:69468000-69477800	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr16:69468000-69477800	Weak transcription	Thymus	Thymus
37	chr16:69468000-69480600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr16:69468000-69482000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr16:69468200-69477800	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr16:69468200-69480600	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr16:69468200-69480600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr16:69468200-69480600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr16:69468400-69476800	Weak transcription	HSMM	muscle
44	chr16:69468600-69477800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr16:69468600-69478000	Weak transcription	Psoas Muscle	Psoas
46	chr16:69469400-69477400	Weak transcription	Placenta	Placenta
47	chr16:69469400-69484000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr16:69470200-69477000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr16:69470400-69477000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr16:69470400-69477200	Weak transcription	Brain Hippocampus Middle	brain

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