Variant report

Variant	rs62157782
Chromosome Location	chr2:112813892-112813893
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:112653818..112657765-chr2:112811676..112815783,10	MCF-7	breast:
2	chr2:112640103..112643601-chr2:112810245..112815342,15	MCF-7	breast:
3	chr2:112812169..112814441-chr2:113238418..113240950,3	K562	blood:
4	chr2:112640495..112643597-chr2:112811494..112814256,4	K562	blood:
5	chr2:112687076..112688579-chr2:112812009..112814430,2	MCF-7	breast:
6	chr12:95396640..95398340-chr2:112811650..112814617,2	MCF-7	breast:
7	chr2:112813166..112815786-chr2:113032980..113035642,2	MCF-7	breast:
8	chr2:112813790..112815365-chr2:112920509..112922091,2	K562	blood:
9	chr1:231004196..231004880-chr2:112813757..112814547,2	Hela-S3	cervix:
10	chr2:112654612..112656528-chr2:112812544..112814421,2	MCF-7	breast:
11	chr2:112652127..112657107-chr2:112810449..112814378,4	K562	blood:
12	chr2:112640328..112643621-chr2:112811494..112814946,7	K562	blood:
13	chr2:112811397..112814190-chr2:113032583..113035282,3	K562	blood:
14	chr2:112640258..112642885-chr2:112811655..112814153,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000114999	Chromatin interaction
ENSG00000188177	Chromatin interaction
ENSG00000240183	Chromatin interaction
ENSG00000153107	Chromatin interaction
ENSG00000153208	Chromatin interaction
ENSG00000119280	Chromatin interaction
ENSG00000184752	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs34132287	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34589210	0.96[AFR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34853608	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34889979	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35049941	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35671911	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4848982	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57706057	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58122407	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58182983	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58552130	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59667312	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62157784	0.89[ASN][1000 genomes]
rs62157785	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62157786	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62157789	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62157792	0.83[ASN][1000 genomes]
rs62157795	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6710189	0.95[ASN][1000 genomes]
rs6727484	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6728297	0.89[ASN][1000 genomes]
rs71414621	0.81[ASN][1000 genomes]
rs7567461	0.98[AFR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874863	chr2:112591224-113157344	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv874864	chr2:112617280-113104142	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv874865	chr2:112623098-113049274	Enhancers Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
4	nsv1013218	chr2:112645633-112908416	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	esv3333591	chr2:112669320-112892618	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv1002027	chr2:112679182-112861534	Weak transcription Genic enhancers Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv1014787	chr2:112679182-112908416	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	nsv535893	chr2:112679182-112908416	Strong transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
9	nsv1003129	chr2:112691270-112816694	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	esv1793068	chr2:112784234-112816694	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
11	esv3409074	chr2:112811506-112814054	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs62157782	TMEM87B	cis	Whole Blood	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:112811200-112814000	Active TSS	iPS-18 Cell Line	embryonic stem cell
2	chr2:112811200-112814200	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr2:112811200-112814200	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr2:112811200-112814200	Active TSS	A549	lung
5	chr2:112811400-112814000	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr2:112811400-112814000	Active TSS	Fetal Brain Female	brain
7	chr2:112811400-112814200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr2:112811400-112814200	Active TSS	Psoas Muscle	Psoas
9	chr2:112811400-112814400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr2:112811400-112814400	Active TSS	Ovary	ovary
11	chr2:112811400-112814600	Active TSS	Left Ventricle	heart
12	chr2:112811400-112814800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr2:112811400-112814800	Active TSS	Fetal Muscle Trunk	muscle
14	chr2:112811400-112814800	Active TSS	HSMMtube	muscle
15	chr2:112811600-112814000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr2:112811600-112814000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:112811600-112814000	Active TSS	H9 Cell Line	embryonic stem cell
18	chr2:112811600-112814000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr2:112811600-112814000	Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr2:112811600-112814000	Active TSS	Colon Smooth Muscle	Colon
21	chr2:112811600-112814000	Active TSS	Fetal Stomach	stomach
22	chr2:112811600-112814000	Active TSS	Placenta Amnion	Placenta Amnion
23	chr2:112811600-112814000	Active TSS	GM12878-XiMat	blood
24	chr2:112811600-112814000	Bivalent/Poised TSS	HepG2	liver
25	chr2:112811600-112814200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr2:112811600-112814200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr2:112811600-112814200	Active TSS	HUES6 Cell Line	embryonic stem cell
28	chr2:112811600-112814200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr2:112811600-112814200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr2:112811600-112814200	Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr2:112811600-112814200	Active TSS	Esophagus	oesophagus
32	chr2:112811600-112814400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr2:112811600-112814600	Active TSS	Right Ventricle	heart
34	chr2:112811600-112814800	Active TSS	Fetal Kidney	kidney
35	chr2:112811800-112814000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr2:112811800-112814000	Active TSS	HUES64 Cell Line	embryonic stem cell
37	chr2:112811800-112814000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
38	chr2:112811800-112814000	Active TSS	Primary T killer memory cells from peripheral blood	blood
39	chr2:112811800-112814000	Active TSS	Muscle Satellite Cultured Cells	--
40	chr2:112811800-112814000	Active TSS	Cortex derived primary cultured neurospheres	brain
41	chr2:112811800-112814000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr2:112811800-112814000	Active TSS	Duodenum Mucosa	Duodenum
43	chr2:112811800-112814000	Active TSS	Placenta	Placenta
44	chr2:112811800-112814000	Active TSS	Rectal Mucosa Donor 31	rectum
45	chr2:112811800-112814000	Active TSS	Rectal Smooth Muscle	rectum
46	chr2:112811800-112814000	Active TSS	Stomach Mucosa	stomach
47	chr2:112811800-112814000	Active TSS	Thymus	Thymus
48	chr2:112811800-112814000	Active TSS	Hela-S3	cervix
49	chr2:112811800-112814000	Active TSS	HUVEC	blood vessel
50	chr2:112811800-112814000	Active TSS	K562	blood

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