Variant report

Variant	rs12892204
Chromosome Location	chr14:68103993-68103994
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: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	chr14:68102169..68104966-chr14:68114666..68116181,2	K562	blood:
2	chr14:68065223..68067050-chr14:68103471..68105425,2	K562	blood:
3	chr14:68100621..68105331-chr14:68105570..68110001,8	K562	blood:
4	chr14:68103300..68104894-chr14:68106590..68108859,2	K562	blood:
5	chr14:68102031..68104777-chr14:68140238..68142866,2	K562	blood:
6	chr14:68091985..68094833-chr14:68101599..68105483,3	K562	blood:
7	chr14:68085085..68089308-chr14:68100128..68104989,9	K562	blood:
8	chr14:68102112..68105104-chr14:68115008..68116539,2	MCF-7	breast:
9	chr14:68085915..68088195-chr14:68103087..68104691,2	K562	blood:
10	chr14:68047959..68049675-chr14:68102282..68105238,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000100564	Chromatin interaction
ENSG00000054690	Chromatin interaction
ENSG00000100568	Chromatin interaction
ENSG00000081181	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs12147055	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12147616	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12879877	0.89[AFR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12880440	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12881351	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12882315	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12882897	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12884644	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12884764	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12884807	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12887092	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12888119	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12889011	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12889527	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12890397	0.89[AFR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12892919	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12893900	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12893907	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12894707	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12895014	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12895217	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12896052	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12898042	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17249649	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2145467	0.83[ASN][1000 genomes]
rs2273160	0.82[AFR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34970739	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3759762	0.89[AFR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7147925	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8007557	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470651	chr14:67732861-68113293	Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv902068	chr14:68083133-68204876	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68087200-68109600	Weak transcription	Gastric	stomach
2	chr14:68087200-68112400	Weak transcription	Aorta	Aorta
3	chr14:68087800-68112000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr14:68088000-68112400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr14:68088000-68112400	Weak transcription	Brain Angular Gyrus	brain
6	chr14:68088000-68112600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr14:68088800-68123000	Weak transcription	Fetal Brain Male	brain
8	chr14:68089400-68112200	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr14:68089600-68116200	Weak transcription	Fetal Kidney	kidney
10	chr14:68089800-68113400	Weak transcription	Brain Cingulate Gyrus	brain
11	chr14:68090000-68109800	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr14:68090000-68114800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr14:68090000-68115800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr14:68090200-68110400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr14:68090200-68111000	Weak transcription	Colon Smooth Muscle	Colon
16	chr14:68090200-68112000	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr14:68090200-68112200	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr14:68090200-68112400	Weak transcription	Brain Anterior Caudate	brain
19	chr14:68090400-68112200	Weak transcription	Stomach Smooth Muscle	stomach
20	chr14:68090800-68110000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr14:68090800-68111200	Weak transcription	HUVEC	blood vessel
22	chr14:68090800-68111800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr14:68090800-68112200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr14:68091800-68109000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr14:68091800-68111000	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr14:68091800-68112200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr14:68091800-68116600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr14:68092000-68112400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr14:68096600-68112400	Weak transcription	HepG2	liver
30	chr14:68098000-68110000	Weak transcription	Brain Germinal Matrix	brain
31	chr14:68100000-68112200	Weak transcription	Pancreas	Pancrea
32	chr14:68100600-68114600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr14:68100800-68109000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr14:68100800-68112200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr14:68100800-68112200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr14:68101000-68109800	Weak transcription	Fetal Brain Female	brain
37	chr14:68101600-68105200	Enhancers	K562	blood
38	chr14:68101600-68114200	Weak transcription	Primary B cells from peripheral blood	blood
39	chr14:68101800-68112200	Weak transcription	Placenta	Placenta
40	chr14:68102000-68112200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr14:68102600-68104800	Enhancers	Pancreatic Islets	Pancreatic Islet
42	chr14:68103400-68110200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr14:68103400-68112800	Weak transcription	HSMMtube	muscle
44	chr14:68103600-68105400	Weak transcription	Psoas Muscle	Psoas
45	chr14:68103600-68109400	Weak transcription	NHEK	skin
46	chr14:68103600-68110600	Weak transcription	Fetal Heart	heart
47	chr14:68103600-68111800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr14:68103600-68112200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr14:68103600-68112200	Weak transcription	Primary T cells from cord blood	blood
50	chr14:68103600-68112400	Weak transcription	Brain Hippocampus Middle	brain

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