Variant report

Variant	rs3748609
Chromosome Location	chr1:151546444-151546445
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:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	1:151496437-151509688..1:151546427-151553405	Hela-S3	cervix:
2	chr1:151524039..151526579-chr1:151544817..151547592,2	MCF-7	breast:
3	chr1:151511366..151514542-chr1:151545770..151549832,4	MCF-7	breast:
4	1:151270864-151283078..1:151546427-151553405	K562	blood:
5	chr1:151544037..151547863-chr1:151548190..151551893,4	K562	blood:
6	1:151516085-151535167..1:151546427-151553405	GM12878	blood:
7	1:151512437-151516085..1:151546427-151553405	Hela-S3	cervix:
8	chr1:151545407..151547863-chr1:151548190..151551142,2	K562	blood:
9	1:151254384-151268403..1:151546427-151553405	GM12878	blood:
10	chr1:151519556..151521326-chr1:151545350..151548109,3	MCF-7	breast:
11	1:151426875-151427826..1:151546427-151553405	Hela-S3	cervix:
12	1:151219411-151234038..1:151546427-151553405	GM12878	blood:
13	chr1:151538431..151540446-chr1:151543775..151547302,3	MCF-7	breast:
14	chr1:151546166..151547146-chr12:81205896..81206416,2	MCF-7	breast:
15	chr1:151546253..151548190-chr1:151557087..151559275,2	K562	blood:
16	chr1:151536968..151539573-chr1:151545297..151547107,2	K562	blood:
17	1:151203965-151215310..1:151546427-151553405	GM12878	blood:
18	1:151427826-151434310..1:151546427-151553405	Hela-S3	cervix:
19	1:151411623-151426875..1:151546427-151553405	GM12878	blood:
20	chr1:151541632..151544049-chr1:151545591..151549035,3	MCF-7	breast:
21	1:151368336-151375897..1:151546427-151553405	GM12878	blood:
22	chr1:151546166..151548100-chr1:151663525..151665692,2	K562	blood:
23	1:151309061-151322694..1:151546427-151553405	Hela-S3	cervix:
24	1:151546427-151553405..1:151618750-151636526	GM12878	blood:

No data

Variant related genes	Relation type
ENSG00000265753	Chromatin interaction
ENSG00000237976	Chromatin interaction
ENSG00000143398	Chromatin interaction
ENSG00000207606	Chromatin interaction
ENSG00000143442	Chromatin interaction
ENSG00000232536	Chromatin interaction
ENSG00000159352	Chromatin interaction
ENSG00000143375	Chromatin interaction
ENSG00000143376	Chromatin interaction
ENSG00000232671	Chromatin interaction
ENSG00000252840	Chromatin interaction
ENSG00000223861	Chromatin interaction
ENSG00000143393	Chromatin interaction
ENSG00000143373	Chromatin interaction
ENSG00000224645	Chromatin interaction
ENSG00000143390	Chromatin interaction
ENSG00000159377	Chromatin interaction
ENSG00000143367	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10218788	0.94[EUR][1000 genomes]
rs10494267	0.91[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11807809	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12090862	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12564097	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12723898	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12734011	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12734511	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12747024	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12747990	0.91[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12751350	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1539490	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1891592	0.87[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1935886	0.91[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34180474	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34690266	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3748608	1.00[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3748610	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4970919	0.87[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6587605	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6675022	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6679183	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6691958	0.95[CEU][hapmap];0.80[CHB][hapmap];0.83[JPT][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6698282	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6704177	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7554707	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][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	nsv916272	chr1:150961809-151557253	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases
2	nsv997511	chr1:151491765-151595902	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151514400-151556800	Weak transcription	Fetal Brain Male	brain
2	chr1:151521800-151559000	Weak transcription	Small Intestine	intestine
3	chr1:151532600-151551200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr1:151533000-151557200	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr1:151533800-151561600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr1:151534200-151549400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr1:151534200-151550200	Strong transcription	Stomach Smooth Muscle	stomach
8	chr1:151535000-151547000	Strong transcription	HSMMtube	muscle
9	chr1:151535600-151547000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr1:151535800-151561800	Weak transcription	Brain Substantia Nigra	brain
11	chr1:151536000-151546800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr1:151536000-151547000	Strong transcription	Placenta	Placenta
13	chr1:151537000-151556800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr1:151537400-151556000	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr1:151537400-151558400	Weak transcription	Fetal Kidney	kidney
16	chr1:151537600-151546800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr1:151538000-151557400	Weak transcription	Brain Hippocampus Middle	brain
18	chr1:151538600-151546800	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr1:151538800-151548800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr1:151539000-151556400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:151539000-151557000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr1:151539600-151546600	Weak transcription	Colon Smooth Muscle	Colon
23	chr1:151539600-151547000	Weak transcription	Brain Anterior Caudate	brain
24	chr1:151539600-151555400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr1:151541000-151552600	Strong transcription	Fetal Muscle Trunk	muscle
26	chr1:151541000-151553200	Strong transcription	Fetal Muscle Leg	muscle
27	chr1:151541200-151557000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr1:151541400-151556400	Strong transcription	Fetal Stomach	stomach
29	chr1:151542000-151557000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr1:151542200-151546800	Weak transcription	Colonic Mucosa	Colon
31	chr1:151542400-151547000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr1:151542400-151548400	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr1:151542400-151549800	Strong transcription	Gastric	stomach
34	chr1:151542600-151546600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr1:151542600-151546800	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr1:151542600-151546800	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr1:151542600-151546800	Weak transcription	Right Ventricle	heart
38	chr1:151542600-151547000	Weak transcription	Brain Cingulate Gyrus	brain
39	chr1:151542600-151547200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr1:151542600-151557400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr1:151542800-151546600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr1:151542800-151546600	Weak transcription	Adipose Nuclei	Adipose
43	chr1:151542800-151546600	Strong transcription	A549	lung
44	chr1:151542800-151546800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr1:151542800-151546800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr1:151542800-151546800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr1:151542800-151546800	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr1:151542800-151547000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr1:151542800-151547000	Weak transcription	Left Ventricle	heart
50	chr1:151542800-151547000	Strong transcription	HSMM	muscle

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