Variant report

Variant	rs61886106
Chromosome Location	chr11:63612706-63612707
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr11:63612686-63613101	MCF10A-Er-Src	breast:	n/a	chr11:63613067-63613074
2	FOSL2	chr11:63612686-63613251	SK-N-SH	brain:	n/a	chr11:63612983-63612993 chr11:63612983-63612993 chr11:63612983-63612993
3	STAT3	chr11:63612655-63613078	MCF10A-Er-Src	breast:	n/a	chr11:63613067-63613074
4	JUND	chr11:63612677-63613271	SK-N-SH	brain:	n/a	chr11:63612983-63612993 chr11:63612983-63612993 chr11:63612983-63612993
5	SPI1	chr11:63612656-63613233	HL-60	blood:	n/a	chr11:63613078-63613091 chr11:63612714-63612721 chr11:63612711-63612724

No.	Distal block	Cell Line	Cell type
1	chr11:63611016..63612895-chr11:63666514..63669248,2	MCF-7	breast:
2	chr11:63612581..63617250-chr11:63617280..63622514,6	MCF-7	breast:
3	chr11:63534922..63537623-chr11:63610692..63612852,2	MCF-7	breast:
4	chr11:63603344..63615182-chr11:63634321..63647771,46	MCF-7	breast:
5	chr11:63579371..63582235-chr11:63612121..63615192,3	K562	blood:
6	chr11:63610591..63619595-chr11:63634759..63639809,13	MCF-7	breast:
7	chr11:63612426..63613195-chr11:63639079..63639705,2	MCF-7	breast:
8	chr11:63605094..63609854-chr11:63611414..63617957,11	K562	blood:

Variant related genes	Relation type
MARK2	TF binding region
ENSG00000168005	Chromatin interaction
ENSG00000255651	Chromatin interaction
ENSG00000072518	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10897457	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11231605	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11231615	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11231619	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11231620	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11231621	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11231630	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11231631	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3850942	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61886103	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61886104	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61886131	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61886132	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61886133	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61886134	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7933791	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7949291	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7952270	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs958333	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9735314	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63608200-63613400	Enhancers	Stomach Mucosa	stomach
2	chr11:63608400-63618600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:63609000-63613200	Enhancers	Primary T killer memory cells from peripheral blood	blood
4	chr11:63609000-63613200	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
5	chr11:63609200-63613000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr11:63609200-63613400	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr11:63609200-63613400	Genic enhancers	Primary T cells fromperipheralblood	blood
8	chr11:63609200-63613600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr11:63609200-63613600	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr11:63609200-63613800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr11:63609200-63616600	Genic enhancers	Fetal Intestine Small	intestine
12	chr11:63609400-63613000	Weak transcription	Psoas Muscle	Psoas
13	chr11:63609400-63613400	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr11:63609400-63613400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr11:63609400-63613400	Genic enhancers	Thymus	Thymus
16	chr11:63609400-63613600	Strong transcription	Fetal Muscle Trunk	muscle
17	chr11:63609400-63613800	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr11:63609400-63613800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
19	chr11:63609400-63613800	Genic enhancers	Fetal Intestine Large	intestine
20	chr11:63609400-63615400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
21	chr11:63609400-63618400	Weak transcription	Ovary	ovary
22	chr11:63609600-63612800	Weak transcription	HUVEC	blood vessel
23	chr11:63609600-63613200	Enhancers	H1 Cell Line	embryonic stem cell
24	chr11:63609600-63613400	Genic enhancers	Primary B cells from cord blood	blood
25	chr11:63609600-63613400	Genic enhancers	Primary T cells from cord blood	blood
26	chr11:63609600-63613400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr11:63609600-63613400	Genic enhancers	Duodenum Mucosa	Duodenum
28	chr11:63609600-63613600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr11:63609600-63613600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
30	chr11:63609600-63613800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr11:63609600-63619200	Weak transcription	HSMMtube	muscle
32	chr11:63609600-63629600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr11:63610200-63614800	Weak transcription	Fetal Kidney	kidney
34	chr11:63610200-63633200	Weak transcription	Fetal Brain Male	brain
35	chr11:63610400-63616600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr11:63610600-63612800	Genic enhancers	Spleen	Spleen
37	chr11:63610600-63613000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr11:63610600-63613000	Genic enhancers	Brain Anterior Caudate	brain
39	chr11:63610600-63613200	Strong transcription	Fetal Brain Female	brain
40	chr11:63610800-63613000	Strong transcription	Fetal Lung	lung
41	chr11:63610800-63613200	Genic enhancers	GM12878-XiMat	blood
42	chr11:63610800-63614800	Weak transcription	Colon Smooth Muscle	Colon
43	chr11:63611000-63614400	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr11:63611000-63620200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr11:63611200-63613000	Strong transcription	Stomach Smooth Muscle	stomach
46	chr11:63611400-63612800	Strong transcription	Rectal Smooth Muscle	rectum
47	chr11:63611400-63613400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr11:63611400-63613600	Enhancers	Placenta Amnion	Placenta Amnion
49	chr11:63611400-63613800	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr11:63611600-63612800	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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