Variant report

Variant	rs3731962
Chromosome Location	chr2:64321823-64321824
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:64316021..64319950-chr2:64320900..64323334,4	K562	blood:
2	chr2:64320691..64322318-chr2:64328074..64330423,2	MCF-7	breast:
3	chr2:64315474..64318085-chr2:64320703..64322833,2	MCF-7	breast:

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	PELI1	hsa-miR-374b-5p	chr2:64321805-64321826

Variant related genes	Relation type
PELI1	miRNA target site

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10165165	0.81[ASN][1000 genomes]
rs10169847	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10170224	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10175483	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10176596	0.90[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap]
rs10183513	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10191854	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10192104	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10192378	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10201191	0.80[AMR][1000 genomes]
rs10204631	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13385515	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13408188	0.90[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13412068	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13418461	0.81[ASN][1000 genomes]
rs13419918	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13428357	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28757314	0.81[ASN][1000 genomes]
rs28798530	0.81[ASN][1000 genomes]
rs3755112	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56028117	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56301411	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60338887	0.93[ASN][1000 genomes]
rs60882934	1.00[ASN][1000 genomes]
rs7579828	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531376	chr2:64094322-64521876	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv1013132	chr2:64235175-64631084	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv2757803	chr2:64253005-64539556	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	esv2759055	chr2:64253005-64539556	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv428396	chr2:64253005-64539556	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	esv34698	chr2:64312142-64521366	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	esv34955	chr2:64312182-64521290	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
8	nsv834243	chr2:64316514-64476935	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
9	nsv961783	chr2:64320136-64321949	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
10	nsv961784	chr2:64320136-64323699	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64313200-64341800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:64313600-64323000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:64314400-64325000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:64315600-64322000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr2:64316200-64323200	Weak transcription	Fetal Kidney	kidney
6	chr2:64316600-64324800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr2:64316800-64326200	Strong transcription	Primary T cells from cord blood	blood
8	chr2:64316800-64327400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr2:64316800-64327800	Strong transcription	Fetal Thymus	thymus
10	chr2:64317000-64322000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr2:64317000-64322000	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr2:64317000-64323200	Weak transcription	Fetal Brain Male	brain
13	chr2:64317000-64328000	Strong transcription	Rectal Mucosa Donor 29	rectum
14	chr2:64317200-64322000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr2:64317200-64322000	Weak transcription	NHEK	skin
16	chr2:64317200-64335600	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr2:64317600-64327000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr2:64317800-64333200	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr2:64318200-64322000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr2:64318200-64323200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr2:64318200-64324600	Strong transcription	Fetal Intestine Large	intestine
22	chr2:64318200-64333600	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr2:64318400-64322000	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr2:64318400-64323200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:64318400-64327000	Strong transcription	Liver	Liver
26	chr2:64318400-64327400	Strong transcription	Placenta	Placenta
27	chr2:64318400-64327600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr2:64318400-64327800	Strong transcription	H1 Cell Line	embryonic stem cell
29	chr2:64318400-64327800	Strong transcription	Rectal Mucosa Donor 31	rectum
30	chr2:64318400-64328000	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr2:64318400-64335600	Strong transcription	HUES48 Cell Line	embryonic stem cell
32	chr2:64318800-64327000	Strong transcription	Primary T helper cells PMA-I stimulated	--
33	chr2:64318800-64336400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr2:64319600-64327600	Strong transcription	HUVEC	blood vessel
35	chr2:64319800-64327000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr2:64320200-64322000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr2:64320200-64328000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
38	chr2:64320400-64322000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr2:64320400-64324200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr2:64320400-64326200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr2:64320400-64339200	Weak transcription	NHLF	lung
42	chr2:64320600-64323000	Weak transcription	Fetal Heart	heart
43	chr2:64320600-64323200	Strong transcription	Fetal Lung	lung
44	chr2:64320600-64323200	Weak transcription	HSMM	muscle
45	chr2:64320600-64323600	Strong transcription	Brain Hippocampus Middle	brain
46	chr2:64320600-64323800	Strong transcription	Colonic Mucosa	Colon
47	chr2:64320600-64324400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr2:64320600-64324400	Strong transcription	Adipose Nuclei	Adipose
49	chr2:64320600-64324400	Strong transcription	Fetal Muscle Trunk	muscle
50	chr2:64320600-64324400	Strong transcription	Fetal Muscle Leg	muscle

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