Variant report

Variant	rs185381
Chromosome Location	chr5:40773954-40773955
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:12)
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	CCNT2	chr5:40773847-40774047	K562	blood:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:40772744..40775681-chr5:40786682..40789617,2	K562	blood:
2	chr5:40772314..40777301-chr5:40833033..40836995,8	MCF-7	breast:
3	chr5:40773952..40776932-chr5:40826531..40828937,3	MCF-7	breast:
4	chr5:40772685..40774717-chr5:40780854..40782861,2	MCF-7	breast:
5	chr5:40773032..40774883-chr5:40778723..40781622,2	K562	blood:
6	chr5:40773648..40776497-chr5:40822684..40825519,3	K562	blood:
7	chr5:40773379..40776613-chr5:40796671..40799412,4	MCF-7	breast:
8	chr5:40772780..40774832-chr5:40834969..40837036,3	K562	blood:
9	chr5:40772521..40774883-chr5:40778723..40781622,3	K562	blood:
10	chr5:40771614..40774420-chr5:40796699..40798889,2	MCF-7	breast:
11	chr5:40760022..40761857-chr5:40773793..40775649,2	K562	blood:
12	chr5:40773088..40775822-chr5:40794513..40796616,2	MCF-7	breast:

No data

Variant related genes	Relation type
PRKAA1	TF binding region
ENSG00000145592	Chromatin interaction
ENSG00000132356	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs152374	1.00[ASN][1000 genomes]
rs152376	0.94[ASN][1000 genomes]
rs154269	1.00[ASN][1000 genomes]
rs154270	0.94[ASN][1000 genomes]
rs154271	0.94[ASN][1000 genomes]
rs154272	0.81[ASN][1000 genomes]
rs154276	1.00[ASN][1000 genomes]
rs154277	1.00[ASN][1000 genomes]
rs154278	1.00[ASN][1000 genomes]
rs154282	1.00[ASN][1000 genomes]
rs154283	1.00[ASN][1000 genomes]
rs1645509	0.81[ASN][1000 genomes]
rs166282	0.81[ASN][1000 genomes]
rs173618	0.94[ASN][1000 genomes]
rs173619	0.81[ASN][1000 genomes]
rs181818	0.83[ASN][1000 genomes]
rs181820	0.81[ASN][1000 genomes]
rs181821	0.81[ASN][1000 genomes]
rs183138	0.94[ASN][1000 genomes]
rs185114	1.00[ASN][1000 genomes]
rs185115	1.00[ASN][1000 genomes]
rs249408	0.87[ASN][1000 genomes]
rs249409	0.87[ASN][1000 genomes]
rs249411	0.87[ASN][1000 genomes]
rs249412	0.87[ASN][1000 genomes]
rs249421	1.00[ASN][1000 genomes]
rs249424	1.00[ASN][1000 genomes]
rs249426	1.00[ASN][1000 genomes]
rs249427	1.00[ASN][1000 genomes]
rs249431	1.00[ASN][1000 genomes]
rs249432	0.94[ASN][1000 genomes]
rs249433	0.94[ASN][1000 genomes]
rs249434	0.94[ASN][1000 genomes]
rs249435	0.94[ASN][1000 genomes]
rs249439	0.81[ASN][1000 genomes]
rs29737	1.00[ASN][1000 genomes]
rs29741	1.00[ASN][1000 genomes]
rs34236150	0.81[ASN][1000 genomes]
rs370346	0.81[ASN][1000 genomes]
rs380334	1.00[ASN][1000 genomes]
rs382916	1.00[ASN][1000 genomes]
rs396412	0.81[ASN][1000 genomes]
rs4129381	0.87[ASN][1000 genomes]
rs424787	0.81[ASN][1000 genomes]
rs438604	0.81[ASN][1000 genomes]
rs441016	0.81[ASN][1000 genomes]
rs445367	0.81[ASN][1000 genomes]
rs455374	0.81[ASN][1000 genomes]
rs455519	1.00[ASN][1000 genomes]
rs456929	1.00[ASN][1000 genomes]
rs456995	1.00[ASN][1000 genomes]
rs457111	0.81[ASN][1000 genomes]
rs458884	0.81[ASN][1000 genomes]
rs459491	0.81[ASN][1000 genomes]
rs459794	0.81[ASN][1000 genomes]
rs460752	0.81[ASN][1000 genomes]
rs461612	1.00[ASN][1000 genomes]
rs463040	0.81[ASN][1000 genomes]
rs463675	0.81[ASN][1000 genomes]
rs463905	0.81[ASN][1000 genomes]
rs464045	0.81[ASN][1000 genomes]
rs464191	0.81[ASN][1000 genomes]
rs465467	0.81[ASN][1000 genomes]
rs467438	0.81[ASN][1000 genomes]
rs704032	0.94[ASN][1000 genomes]
rs704033	0.94[ASN][1000 genomes]
rs837100	1.00[ASN][1000 genomes]
rs837102	0.83[ASN][1000 genomes]
rs837105	1.00[ASN][1000 genomes]
rs837119	0.87[ASN][1000 genomes]
rs837267	1.00[ASN][1000 genomes]
rs837279	0.94[ASN][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	nsv881377	chr5:40753877-40810426	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv881070	chr5:40753877-40827307	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv880438	chr5:40753877-40900717	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	160 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:40756000-40776000	Weak transcription	Aorta	Aorta
2	chr5:40756000-40780600	Weak transcription	Spleen	Spleen
3	chr5:40756200-40775200	Weak transcription	Stomach Mucosa	stomach
4	chr5:40756200-40797200	Weak transcription	Gastric	stomach
5	chr5:40756400-40775000	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr5:40756400-40776200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr5:40756400-40776400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:40756400-40776800	Weak transcription	Psoas Muscle	Psoas
9	chr5:40756400-40780600	Weak transcription	Esophagus	oesophagus
10	chr5:40756400-40785200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr5:40756400-40797400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr5:40756600-40775800	Weak transcription	Fetal Heart	heart
13	chr5:40756600-40776000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr5:40756600-40780600	Weak transcription	Pancreas	Pancrea
15	chr5:40756600-40781200	Weak transcription	Fetal Brain Male	brain
16	chr5:40757200-40777200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:40758200-40777000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr5:40758400-40777800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr5:40759000-40776200	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr5:40759400-40777000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr5:40759400-40777200	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr5:40759600-40776000	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr5:40759800-40776000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr5:40760000-40777600	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr5:40760400-40776200	Strong transcription	Osteobl	bone
26	chr5:40760600-40776000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr5:40760600-40777600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr5:40760800-40777600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr5:40761000-40775600	Strong transcription	Primary neutrophils fromperipheralblood	blood
30	chr5:40761200-40776000	Strong transcription	Liver	Liver
31	chr5:40761400-40776000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr5:40761400-40777600	Strong transcription	Primary T helper cells PMA-I stimulated	--
33	chr5:40761600-40777600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chr5:40761800-40775200	Strong transcription	Fetal Intestine Large	intestine
35	chr5:40762000-40777800	Strong transcription	Primary B cells from peripheral blood	blood
36	chr5:40762000-40778400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr5:40763200-40777200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr5:40763400-40776000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr5:40763600-40777600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr5:40765200-40775400	Weak transcription	Brain Angular Gyrus	brain
41	chr5:40765200-40775800	Weak transcription	Brain Hippocampus Middle	brain
42	chr5:40765400-40775200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr5:40765400-40776000	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr5:40765400-40776000	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr5:40765400-40778200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr5:40765400-40796600	Weak transcription	Right Ventricle	heart
47	chr5:40765600-40776000	Weak transcription	Thymus	Thymus
48	chr5:40765600-40776200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr5:40765600-40796600	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr5:40766000-40782200	Weak transcription	Brain Substantia Nigra	brain

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