Variant report

Variant	rs2317238
Chromosome Location	chr16:81480147-81480148
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:81347539..81350872-chr16:81478035..81482618,4	MCF-7	breast:
2	chr16:81479233..81481383-chr16:81669168..81671118,2	MCF-7	breast:
3	chr16:81480040..81482006-chr16:81671001..81673698,2	K562	blood:
4	chr16:81477150..81481169-chr16:81642368..81644770,3	MCF-7	breast:
5	chr16:81479204..81482002-chr16:81562835..81564936,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000153815	Chromatin interaction
ENSG00000261609	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs310008	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs310010	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs60193157	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62043925	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62043926	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7193107	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9923364	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532569	chr16:80980356-81700149	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv1058519	chr16:81177767-81735333	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
3	nsv948448	chr16:81198147-81906766	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	37 gene(s)	inside rSNPs	diseases
4	esv34108	chr16:81469090-81510471	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
5	esv3364489	chr16:81476951-81480349	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81477400-81481000	Active TSS	H9 Cell Line	embryonic stem cell
2	chr16:81477600-81480400	Active TSS	Thymus	Thymus
3	chr16:81477600-81480600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr16:81477600-81480800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr16:81477600-81481800	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr16:81477800-81480200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr16:81477800-81480400	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr16:81477800-81480400	Active TSS	HSMMtube	muscle
9	chr16:81477800-81480600	Active TSS	Small Intestine	intestine
10	chr16:81477800-81480800	Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr16:81477800-81480800	Active TSS	Ovary	ovary
12	chr16:81477800-81481000	Active TSS	Fetal Brain Female	brain
13	chr16:81477800-81481200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr16:81477800-81481600	Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr16:81478000-81480200	Active TSS	Primary monocytes fromperipheralblood	blood
16	chr16:81478000-81480200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
17	chr16:81478000-81480200	Active TSS	Stomach Smooth Muscle	stomach
18	chr16:81478000-81480400	Active TSS	Colonic Mucosa	Colon
19	chr16:81478000-81480400	Active TSS	Fetal Stomach	stomach
20	chr16:81478000-81480600	Active TSS	H1 Cell Line	embryonic stem cell
21	chr16:81478000-81480600	Active TSS	Left Ventricle	heart
22	chr16:81478000-81480600	Active TSS	Pancreas	Pancrea
23	chr16:81478000-81480600	Active TSS	Sigmoid Colon	Sigmoid Colon
24	chr16:81478000-81480800	Active TSS	Psoas Muscle	Psoas
25	chr16:81478000-81481000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr16:81478000-81481000	Active TSS	Esophagus	oesophagus
27	chr16:81478000-81481000	Active TSS	Fetal Intestine Large	intestine
28	chr16:81478000-81481000	Active TSS	Fetal Intestine Small	intestine
29	chr16:81478000-81481000	Active TSS	Lung	lung
30	chr16:81478000-81481000	Active TSS	HMEC	breast
31	chr16:81478000-81481200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr16:81478200-81480200	Active TSS	Primary T cells from cord blood	blood
33	chr16:81478600-81480600	Active TSS	Monocytes-CD14+_RO01746	blood
34	chr16:81478800-81480200	Active TSS	iPS-18 Cell Line	embryonic stem cell
35	chr16:81478800-81480200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr16:81478800-81480200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
37	chr16:81478800-81480200	Active TSS	Liver	Liver
38	chr16:81478800-81480200	Active TSS	Duodenum Smooth Muscle	Duodenum
39	chr16:81478800-81480200	Active TSS	Fetal Brain Male	brain
40	chr16:81478800-81480200	Active TSS	Fetal Lung	lung
41	chr16:81478800-81480200	Active TSS	Fetal Thymus	thymus
42	chr16:81478800-81480200	Active TSS	Gastric	stomach
43	chr16:81478800-81480200	Active TSS	Placenta Amnion	Placenta Amnion
44	chr16:81478800-81480200	Active TSS	Rectal Mucosa Donor 29	rectum
45	chr16:81478800-81480200	Active TSS	Spleen	Spleen
46	chr16:81478800-81480400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr16:81478800-81480400	Active TSS	GM12878-XiMat	blood
48	chr16:81478800-81480800	Active TSS	iPS-15b Cell Line	embryonic stem cell
49	chr16:81478800-81480800	Active TSS	Brain Anterior Caudate	brain
50	chr16:81478800-81480800	Active TSS	Colon Smooth Muscle	Colon

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