Variant report

Variant	rs12099085
Chromosome Location	chr11:63666944-63666945
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr11:63666837-63666993	A549	lung:	n/a	n/a
2	REST	chr11:63666784-63667024	K562	blood:	n/a	n/a
3	REST	chr11:63666789-63667051	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr11:63666873-63667200	K562	blood:	n/a	n/a
5	REST	chr11:63666773-63667030	H1-hESC	embryonic stem cell:	n/a	n/a
6	REST	chr11:63666717-63667149	HL-60	blood:	n/a	n/a
7	REST	chr11:63666851-63667028	H1-hESC	embryonic stem cell:	n/a	n/a
8	REST	chr11:63666727-63667049	ECC-1	luminal epithelium:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:63661037..63663942-chr11:63664316..63667301,4	K562	blood:
2	chr11:63664374..63669809-chr11:63669959..63673473,6	K562	blood:
3	chr11:63663375..63669809-chr11:63669959..63673473,8	K562	blood:
4	chr11:63665389..63667133-chr11:63704617..63706582,2	MCF-7	breast:
5	chr11:63653210..63656003-chr11:63665435..63667701,2	MCF-7	breast:
6	chr11:63666544..63671236-chr11:63682476..63685803,4	MCF-7	breast:
7	chr11:63662516..63665229-chr11:63666863..63668826,2	MCF-7	breast:
8	chr11:63611016..63612895-chr11:63666514..63669248,2	MCF-7	breast:
9	chr11:63655716..63660609-chr11:63666354..63669241,5	K562	blood:
10	chr11:63603311..63612666-chr11:63664740..63679491,25	MCF-7	breast:

No data

Variant related genes	Relation type
MARK2	TF binding region
ENSG00000110583	Chromatin interaction
ENSG00000167771	Chromatin interaction
ENSG00000072518	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10897460	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11231632	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11231634	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11822339	1.00[JPT][hapmap]
rs12271959	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12277386	1.00[EUR][1000 genomes]
rs12277838	1.00[EUR][1000 genomes]
rs12288290	1.00[EUR][1000 genomes]
rs12291042	1.00[EUR][1000 genomes]
rs12295918	1.00[EUR][1000 genomes]
rs13377315	1.00[EUR][1000 genomes]
rs1392118	0.91[ASN][1000 genomes]
rs17403349	0.83[MKK][hapmap];1.00[TSI][hapmap]
rs2133548	1.00[JPT][hapmap]
rs320110	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs320115	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[ASN][1000 genomes]
rs57219930	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57864399	1.00[EUR][1000 genomes]
rs58678024	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59423787	1.00[EUR][1000 genomes]
rs59642000	1.00[EUR][1000 genomes]
rs60107756	1.00[EUR][1000 genomes]
rs60791209	0.91[ASN][1000 genomes]
rs61141225	0.91[ASN][1000 genomes]
rs61475860	1.00[EUR][1000 genomes]
rs684865	1.00[TSI][hapmap]
rs7110433	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7123788	1.00[TSI][hapmap]
rs7127354	1.00[GIH][hapmap];1.00[JPT][hapmap]
rs7130187	1.00[GIH][hapmap];1.00[JPT][hapmap]
rs73494120	1.00[ASN][1000 genomes]
rs7929867	1.00[EUR][1000 genomes]
rs7933899	0.87[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7948681	0.87[LWK][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7952003	0.84[LWK][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs9630214	1.00[EUR][1000 genomes]
rs9630215	1.00[EUR][1000 genomes]
rs9804541	1.00[TSI][hapmap]
rs9888136	1.00[EUR][1000 genomes]
rs9888177	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051171	chr11:62987064-63835715	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
2	nsv468589	chr11:63515752-63713239	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv555180	chr11:63515752-63713239	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS 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 target site	39 gene(s)	inside rSNPs	diseases
4	esv1839119	chr11:63615554-63680052	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv468590	chr11:63639881-63783352	Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	nsv555181	chr11:63639881-63783352	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
7	nsv897629	chr11:63664882-63866959	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
8	nsv897630	chr11:63664882-63924446	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
9	nsv897631	chr11:63664882-64129722	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	254 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Response to methylphenidate treatment in attention-deficit/hyperactivity disorder (blood pressure)	21130132	GWAS catalog

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63657000-63670000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr11:63657400-63677800	Strong transcription	Dnd41	blood
3	chr11:63658800-63678400	Strong transcription	Primary B cells from cord blood	blood
4	chr11:63659400-63678600	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr11:63659600-63680600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr11:63659800-63678000	Strong transcription	Rectal Mucosa Donor 31	rectum
7	chr11:63659800-63682400	Strong transcription	Fetal Intestine Large	intestine
8	chr11:63660000-63674400	Strong transcription	Fetal Thymus	thymus
9	chr11:63660200-63673200	Strong transcription	Fetal Intestine Small	intestine
10	chr11:63660600-63674000	Strong transcription	Fetal Stomach	stomach
11	chr11:63660800-63669400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr11:63660800-63669800	Strong transcription	Hela-S3	cervix
13	chr11:63660800-63670000	Strong transcription	Fetal Muscle Trunk	muscle
14	chr11:63660800-63672600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr11:63660800-63674400	Strong transcription	Primary neutrophils fromperipheralblood	blood
16	chr11:63660800-63674400	Strong transcription	Fetal Lung	lung
17	chr11:63660800-63678000	Strong transcription	Primary B cells from peripheral blood	blood
18	chr11:63661000-63669800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr11:63661000-63673200	Strong transcription	Skeletal Muscle Female	skeletal muscle
20	chr11:63661000-63674000	Strong transcription	Stomach Smooth Muscle	stomach
21	chr11:63661000-63677800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr11:63661000-63678000	Strong transcription	Liver	Liver
23	chr11:63661200-63678600	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr11:63661400-63673600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr11:63661400-63675800	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr11:63661600-63677400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr11:63661600-63678000	Strong transcription	Thymus	Thymus
28	chr11:63661600-63678000	Strong transcription	NHEK	skin
29	chr11:63661800-63674000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr11:63662200-63669400	Strong transcription	Primary hematopoietic stem cells	blood
31	chr11:63662200-63669600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr11:63662200-63670000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr11:63662200-63670800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr11:63662200-63670800	Strong transcription	GM12878-XiMat	blood
35	chr11:63662200-63672200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr11:63662200-63672200	Strong transcription	HepG2	liver
37	chr11:63662200-63673000	Strong transcription	H1 Cell Line	embryonic stem cell
38	chr11:63662200-63673000	Strong transcription	Fetal Muscle Leg	muscle
39	chr11:63662200-63673800	Strong transcription	H9 Cell Line	embryonic stem cell
40	chr11:63662200-63674400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr11:63662200-63677400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr11:63662400-63672000	Strong transcription	Spleen	Spleen
43	chr11:63662400-63672600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr11:63662400-63672800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr11:63662400-63673000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
46	chr11:63662400-63673000	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr11:63662400-63673600	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr11:63662400-63674400	Strong transcription	HUES6 Cell Line	embryonic stem cell
49	chr11:63662400-63674400	Strong transcription	Placenta	Placenta
50	chr11:63662400-63675400	Strong transcription	Rectal Smooth Muscle	rectum

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