Variant report

Variant	rs154276
Chromosome Location	chr5:40779691-40779692
allele	C/T
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:40778589..40781225-chr5:40798736..40800242,2	K562	blood:
2	chr5:40768771..40770676-chr5:40779295..40780803,2	K562	blood:
3	chr5:40772521..40774883-chr5:40778723..40781622,3	K562	blood:
4	chr5:40773032..40774883-chr5:40778723..40781622,2	K562	blood:
5	chr5:40778589..40781833-chr5:40798494..40800242,3	K562	blood:
6	chr5:40779573..40785197-chr5:40796111..40799754,6	MCF-7	breast:
7	chr5:40755924..40758676-chr5:40778215..40780297,2	K562	blood:
8	chr5:40755376..40758160-chr5:40779658..40781584,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000113638	Chromatin interaction
ENSG00000132356	Chromatin interaction

Extended variants
information (count: 98 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs1070444	1.00[JPT][hapmap]
rs1070445	1.00[JPT][hapmap]
rs1097592	1.00[JPT][hapmap];1.00[AMR][1000 genomes]
rs152374	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs152376	0.94[ASN][1000 genomes]
rs1530811	1.00[JPT][hapmap]
rs154269	1.00[ASN][1000 genomes]
rs154270	0.94[ASN][1000 genomes]
rs154271	0.94[ASN][1000 genomes]
rs154272	0.81[ASN][1000 genomes]
rs154274	1.00[JPT][hapmap]
rs154277	1.00[ASN][1000 genomes]
rs154278	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs154282	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs154283	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1645509	0.81[ASN][1000 genomes]
rs166282	1.00[JPT][hapmap];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]
rs185381	1.00[ASN][1000 genomes]
rs187274	1.00[JPT][hapmap]
rs192962	1.00[JPT][hapmap]
rs249408	0.87[ASN][1000 genomes]
rs249409	0.87[ASN][1000 genomes]
rs249411	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs249412	0.87[ASN][1000 genomes]
rs249421	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs249424	1.00[ASN][1000 genomes]
rs249426	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs249427	1.00[ASN][1000 genomes]
rs249431	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs249432	0.94[ASN][1000 genomes]
rs249433	0.94[ASN][1000 genomes]
rs249434	0.94[ASN][1000 genomes]
rs249435	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs249439	0.81[ASN][1000 genomes]
rs29737	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs29741	1.00[ASN][1000 genomes]
rs29762	1.00[JPT][hapmap]
rs29763	1.00[JPT][hapmap]
rs29764	1.00[JPT][hapmap]
rs323556	1.00[JPT][hapmap]
rs323562	1.00[JPT][hapmap]
rs34236150	0.81[ASN][1000 genomes]
rs35672368	1.00[AMR][1000 genomes]
rs370346	0.81[ASN][1000 genomes]
rs380334	1.00[CHB][hapmap];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]
rs42515	1.00[JPT][hapmap]
rs438604	0.81[ASN][1000 genomes]
rs441016	0.81[ASN][1000 genomes]
rs445367	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs455374	0.81[ASN][1000 genomes]
rs455519	1.00[CHB][hapmap];1.00[JPT][hapmap];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	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs459794	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs460752	0.81[ASN][1000 genomes]
rs461612	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs463040	0.81[ASN][1000 genomes]
rs463675	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs463905	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs464045	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs464191	0.81[ASN][1000 genomes]
rs465467	0.81[ASN][1000 genomes]
rs467438	0.81[ASN][1000 genomes]
rs57237835	1.00[AMR][1000 genomes]
rs58170129	1.00[AMR][1000 genomes]
rs60805058	1.00[AMR][1000 genomes]
rs6451550	1.00[EUR][1000 genomes]
rs694217	1.00[JPT][hapmap]
rs704032	0.94[ASN][1000 genomes]
rs704033	0.94[ASN][1000 genomes]
rs704034	1.00[JPT][hapmap]
rs837100	1.00[ASN][1000 genomes]
rs837102	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs837105	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs837109	1.00[CHB][hapmap]
rs837119	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs837267	1.00[ASN][1000 genomes]
rs837279	0.94[ASN][1000 genomes]
rs837378	1.00[JPT][hapmap]
rs837385	1.00[JPT][hapmap]

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:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:40756000-40780600	Weak transcription	Spleen	Spleen
2	chr5:40756200-40797200	Weak transcription	Gastric	stomach
3	chr5:40756400-40780600	Weak transcription	Esophagus	oesophagus
4	chr5:40756400-40785200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr5:40756400-40797400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr5:40756600-40780600	Weak transcription	Pancreas	Pancrea
7	chr5:40756600-40781200	Weak transcription	Fetal Brain Male	brain
8	chr5:40765400-40796600	Weak transcription	Right Ventricle	heart
9	chr5:40765600-40796600	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr5:40766000-40782200	Weak transcription	Brain Substantia Nigra	brain
11	chr5:40771600-40788600	Weak transcription	Fetal Stomach	stomach
12	chr5:40771800-40781400	Weak transcription	HSMMtube	muscle
13	chr5:40773000-40788200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr5:40774400-40780800	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr5:40774800-40782200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr5:40776200-40782000	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr5:40776200-40797000	Weak transcription	Colonic Mucosa	Colon
18	chr5:40776400-40781800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr5:40776400-40782000	Weak transcription	Colon Smooth Muscle	Colon
20	chr5:40776400-40784800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr5:40776600-40782000	Weak transcription	Small Intestine	intestine
22	chr5:40776600-40786200	Weak transcription	GM12878-XiMat	blood
23	chr5:40776600-40787600	Weak transcription	Hela-S3	cervix
24	chr5:40776800-40781000	Weak transcription	NHDF-Ad	bronchial
25	chr5:40776800-40782000	Weak transcription	Brain Germinal Matrix	brain
26	chr5:40776800-40782800	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr5:40776800-40784600	Weak transcription	HUVEC	blood vessel
28	chr5:40777000-40779800	Weak transcription	HepG2	liver
29	chr5:40777000-40780400	Weak transcription	A549	lung
30	chr5:40777000-40780400	Weak transcription	NHEK	skin
31	chr5:40777000-40780600	Weak transcription	Aorta	Aorta
32	chr5:40777000-40780600	Weak transcription	Left Ventricle	heart
33	chr5:40777000-40780800	Weak transcription	Adipose Nuclei	Adipose
34	chr5:40777000-40781600	Weak transcription	HSMM	muscle
35	chr5:40777000-40781800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr5:40777000-40781800	Weak transcription	NHLF	lung
37	chr5:40777000-40782000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr5:40777000-40782000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr5:40777000-40782000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr5:40777000-40782000	Weak transcription	Brain Hippocampus Middle	brain
41	chr5:40777000-40782000	Weak transcription	Duodenum Mucosa	Duodenum
42	chr5:40777000-40782000	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr5:40777000-40782000	Weak transcription	Fetal Lung	lung
44	chr5:40777000-40782000	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr5:40777000-40782200	Weak transcription	Brain Cingulate Gyrus	brain
46	chr5:40777000-40784000	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr5:40777000-40784200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr5:40777000-40784400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr5:40777000-40784400	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr5:40777000-40784400	Weak transcription	Fetal Kidney	kidney

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