Variant report

Variant	rs13394094
Chromosome Location	chr2:112809565-112809566
allele	C/T
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:5)
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	POLR2A	chr2:112807236-112809929	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:112801843..112803949-chr2:112807499..112810301,2	K562	blood:
2	chr2:112809505..112811729-chr2:113340407..113342286,2	MCF-7	breast:
3	chr2:112804262..112806076-chr2:112808977..112811892,2	K562	blood:
4	chr2:112640405..112641964-chr2:112807881..112810741,2	K562	blood:
5	chr2:112806759..112810398-chr2:112810456..112813604,4	K562	blood:

No data

Variant related genes	Relation type
TMEM87B	TF binding region
ENSG00000153107	Chromatin interaction
ENSG00000125611	Chromatin interaction
ENSG00000153214	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10165940	0.90[EUR][1000 genomes]
rs10168067	0.84[EUR][1000 genomes]
rs10168915	1.00[ASN][1000 genomes]
rs10170258	1.00[ASN][1000 genomes]
rs10171359	1.00[ASN][1000 genomes]
rs10172310	1.00[ASN][1000 genomes]
rs10175344	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10179948	0.83[AFR][1000 genomes]
rs10180018	1.00[ASN][1000 genomes]
rs10180086	0.90[EUR][1000 genomes]
rs10182451	1.00[ASN][1000 genomes]
rs10182764	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10182931	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10183003	1.00[ASN][1000 genomes]
rs10185224	1.00[ASN][1000 genomes]
rs10190471	0.90[EUR][1000 genomes]
rs10197735	1.00[ASN][1000 genomes]
rs10201778	1.00[ASN][1000 genomes]
rs10204140	1.00[ASN][1000 genomes]
rs10204243	1.00[ASN][1000 genomes]
rs10204653	1.00[ASN][1000 genomes]
rs10205793	0.90[EUR][1000 genomes]
rs10206255	1.00[ASN][1000 genomes]
rs10211152	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs12328678	1.00[ASN][1000 genomes]
rs13313775	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13383743	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13387346	0.80[EUR][1000 genomes]
rs13391959	1.00[ASN][1000 genomes]
rs13396030	0.83[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs13401258	1.00[ASN][1000 genomes]
rs13402707	0.90[EUR][1000 genomes]
rs13411851	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13412743	1.00[ASN][1000 genomes]
rs13416895	0.88[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs13417413	1.00[ASN][1000 genomes]
rs13418394	1.00[ASN][1000 genomes]
rs13421261	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13422534	1.00[ASN][1000 genomes]
rs13424713	1.00[ASN][1000 genomes]
rs13431260	1.00[ASN][1000 genomes]
rs2230517	0.90[EUR][1000 genomes]
rs56371451	1.00[ASN][1000 genomes]
rs6705046	1.00[ASN][1000 genomes]
rs6723289	0.90[EUR][1000 genomes]
rs6723394	0.90[EUR][1000 genomes]
rs67246870	1.00[ASN][1000 genomes]
rs6735717	0.90[EUR][1000 genomes]
rs72825696	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72829620	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72829658	1.00[ASN][1000 genomes]
rs72943913	1.00[ASN][1000 genomes]
rs9631022	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9631023	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	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

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:112803200-112811200	Weak transcription	Fetal Stomach	stomach
2	chr2:112804400-112811000	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr2:112804600-112811200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:112805600-112811200	Weak transcription	Adipose Nuclei	Adipose
5	chr2:112805600-112811200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr2:112805600-112811400	Weak transcription	Right Ventricle	heart
7	chr2:112805600-112811600	Weak transcription	Aorta	Aorta
8	chr2:112805600-112811600	Weak transcription	Gastric	stomach
9	chr2:112805800-112811000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:112806000-112811400	Weak transcription	Right Atrium	heart
11	chr2:112806200-112811000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr2:112806200-112811200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:112806400-112810800	Weak transcription	K562	blood
14	chr2:112806400-112811000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr2:112806400-112811000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr2:112806400-112811000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr2:112806400-112811000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr2:112806400-112811000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr2:112806400-112811000	Weak transcription	Fetal Heart	heart
20	chr2:112806400-112811200	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr2:112806400-112811200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr2:112806400-112811200	Weak transcription	Brain Anterior Caudate	brain
23	chr2:112807000-112811000	Weak transcription	NHDF-Ad	bronchial
24	chr2:112807600-112811400	Weak transcription	Fetal Muscle Trunk	muscle
25	chr2:112807600-112811600	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr2:112807800-112811200	Weak transcription	Colonic Mucosa	Colon
27	chr2:112808000-112810200	Weak transcription	Duodenum Mucosa	Duodenum
28	chr2:112808200-112810800	Weak transcription	HepG2	liver
29	chr2:112808200-112811200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr2:112808400-112809600	Weak transcription	Small Intestine	intestine
31	chr2:112808600-112810600	Weak transcription	Fetal Intestine Small	intestine
32	chr2:112808600-112811000	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr2:112808600-112811000	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr2:112808600-112811200	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr2:112808600-112811200	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr2:112809000-112810800	Weak transcription	Fetal Intestine Large	intestine
37	chr2:112809400-112809800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr2:112809400-112811600	Weak transcription	Pancreas	Pancrea

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