Variant report

Variant	rs41509648
Chromosome Location	chr11:63579982-63579983
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	YY1	chr11:63579982-63580372	K562	blood:	n/a	n/a
2	E2F6	chr11:63579940-63581635	K562	blood:	n/a	chr11:63580762-63580774 chr11:63581426-63581440 chr11:63581429-63581443
3	ZNF384	chr11:63579875-63580156	K562	blood:	n/a	n/a
4	BHLHE40	chr11:63579674-63580295	K562	blood:	n/a	n/a
5	NR2F2	chr11:63579897-63580782	K562	blood:	n/a	n/a
6	POLR2A	chr11:63579734-63580044	HepG2	liver:	n/a	n/a
7	E2F6	chr11:63579840-63580211	K562	blood:	n/a	n/a
8	MAX	chr11:63579611-63581761	K562	blood:	n/a	chr11:63580766-63580776 chr11:63581079-63581089 chr11:63580907-63580917 chr11:63580219-63580228 chr11:63581504-63581514
9	MXI1	chr11:63579850-63582705	SK-N-SH	brain:	n/a	n/a
10	TEAD4	chr11:63579850-63580714	K562	blood:	n/a	chr11:63580161-63580170
11	MXI1	chr11:63579952-63582400	IMR90	lung:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr11:63579552..63584409-chr11:63604789..63609677,6	K562	blood:
2	chr11:63525704..63527853-chr11:63578506..63580593,2	K562	blood:
3	chr11:63579193..63582428-chr11:63682051..63685961,4	K562	blood:
4	chr11:63532131..63535124-chr11:63579146..63582872,4	K562	blood:
5	chr11:63577221..63582686-chr11:63583021..63587487,9	MCF-7	breast:
6	chr11:63533773..63537846-chr11:63579275..63583196,6	MCF-7	breast:
7	chr11:63448233..63451551-chr11:63578408..63582128,5	K562	blood:
8	chr11:63532131..63538052-chr11:63579345..63585604,10	K562	blood:
9	chr11:63436319..63439202-chr11:63579775..63581446,2	MCF-7	breast:
10	chr11:63532069..63539323-chr11:63579489..63583130,14	MCF-7	breast:
11	chr11:63579430..63582335-chr11:63993670..63995611,2	K562	blood:
12	chr11:62520403..62522717-chr11:63579678..63581641,2	MCF-7	breast:
13	chr11:63579621..63581291-chr11:63753774..63755303,2	MCF-7	breast:
14	chr11:63579552..63583589-chr11:63604564..63608557,6	K562	blood:

No data

Variant related genes	Relation type
C11orf84	TF binding region
ENSG00000188070	Chromatin interaction
ENSG00000168005	Chromatin interaction
ENSG00000184743	Chromatin interaction
ENSG00000167770	Chromatin interaction
ENSG00000255651	Chromatin interaction
ENSG00000133318	Chromatin interaction
ENSG00000149743	Chromatin interaction
ENSG00000072518	Chromatin interaction
ENSG00000167771	Chromatin interaction
ENSG00000149761	Chromatin interaction
ENSG00000185670	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10897442	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11231674	1.00[CHB][hapmap]
rs11551215	0.89[EUR][1000 genomes]
rs1186605	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12291587	1.00[EUR][1000 genomes]
rs12361815	1.00[CHB][hapmap]
rs1404500	1.00[JPT][hapmap];0.89[TSI][hapmap]
rs17615385	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1789218	1.00[CHB][hapmap]
rs2508191	1.00[CHB][hapmap]
rs3758647	1.00[CHB][hapmap]
rs474548	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs520908	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap]
rs542966	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs542998	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs547526	1.00[ASN][1000 genomes]
rs554164	1.00[ASN][1000 genomes]
rs566255	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs58508927	0.84[EUR][1000 genomes]
rs687631	1.00[ASN][1000 genomes]
rs7122132	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	esv3413647	chr11:63550425-63582789	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63567600-63580000	Weak transcription	Brain Cingulate Gyrus	brain
2	chr11:63570600-63580000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr11:63571000-63580000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr11:63571000-63580000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr11:63571000-63580000	Weak transcription	A549	lung
6	chr11:63571800-63580000	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr11:63572000-63580000	Weak transcription	Osteobl	bone
8	chr11:63572200-63580000	Weak transcription	HMEC	breast
9	chr11:63572400-63580000	Weak transcription	Duodenum Mucosa	Duodenum
10	chr11:63572600-63580000	Weak transcription	Fetal Intestine Small	intestine
11	chr11:63572600-63580200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr11:63572800-63580000	Weak transcription	Colonic Mucosa	Colon
13	chr11:63573800-63580000	Weak transcription	Ovary	ovary
14	chr11:63573800-63580200	Weak transcription	Left Ventricle	heart
15	chr11:63574000-63580000	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr11:63574000-63580200	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr11:63575200-63580000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr11:63575400-63580000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr11:63575800-63580200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr11:63578600-63580000	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr11:63578800-63580200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr11:63578800-63580200	Weak transcription	Lung	lung
23	chr11:63578800-63580400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr11:63579000-63580000	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr11:63579000-63580200	Weak transcription	Placenta	Placenta
26	chr11:63579000-63580600	Flanking Active TSS	Hela-S3	cervix
27	chr11:63579200-63580000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr11:63579200-63580000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr11:63579200-63580000	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr11:63579200-63580000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr11:63579200-63580000	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr11:63579200-63580000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr11:63579200-63580000	Weak transcription	Fetal Intestine Large	intestine
34	chr11:63579200-63580000	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr11:63579200-63581800	Active TSS	Brain Inferior Temporal Lobe	brain
36	chr11:63579400-63580000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr11:63579400-63580000	Enhancers	Brain Germinal Matrix	brain
38	chr11:63579400-63580000	Enhancers	Fetal Brain Male	brain
39	chr11:63579400-63580200	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr11:63579400-63580200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr11:63579400-63580200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr11:63579400-63580200	Enhancers	Fetal Muscle Trunk	muscle
43	chr11:63579400-63580400	Enhancers	Liver	Liver
44	chr11:63579400-63582200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
45	chr11:63579600-63580000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr11:63579600-63580000	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr11:63579600-63580000	Active TSS	iPS-18 Cell Line	embryonic stem cell
48	chr11:63579600-63580000	Active TSS	iPS-20b Cell Line	embryonic stem cell
49	chr11:63579600-63580000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr11:63579600-63580000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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