Variant report

Variant	rs674363
Chromosome Location	chr11:65699134-65699135
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:65685795..65689650-chr11:65696551..65700484,6	MCF-7	breast:
2	chr11:65657110..65659660-chr11:65699000..65702275,4	MCF-7	breast:
3	chr11:65687555..65689497-chr11:65697887..65700261,3	MCF-7	breast:
4	chr11:65654434..65656570-chr11:65699058..65700716,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175550	Chromatin interaction
ENSG00000172500	Chromatin interaction
ENSG00000175602	Chromatin interaction
ENSG00000175573	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1151523	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12361552	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs500161	0.81[EUR][1000 genomes]
rs526631	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs556872	0.86[ASN][1000 genomes]
rs574586	0.81[EUR][1000 genomes]
rs575479	0.82[EUR][1000 genomes]
rs589253	0.81[EUR][1000 genomes]
rs590318	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs590871	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs617791	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61893932	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs634534	0.82[ASN][1000 genomes]
rs653236	0.82[EUR][1000 genomes]
rs669371	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs689274	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs694156	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[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	nsv430401	chr11:65419324-65788024	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	224 gene(s)	inside rSNPs	diseases
2	esv2758274	chr11:65559893-65722363	Genic enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
3	esv2759834	chr11:65559893-65722363	Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
4	nsv427890	chr11:65559893-65722363	Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
5	nsv897761	chr11:65580638-65738566	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	186 gene(s)	inside rSNPs	diseases
6	nsv897762	chr11:65613218-65758854	Active TSS Flanking Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	185 gene(s)	inside rSNPs	diseases
7	nsv897765	chr11:65623708-65758854	Strong transcription Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
8	nsv832191	chr11:65632329-65806120	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
9	esv3444925	chr11:65687425-65714023	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
10	nsv948711	chr11:65692760-65949674	Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65687800-65699800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:65688800-65715000	Weak transcription	Right Atrium	heart
3	chr11:65690400-65699400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr11:65690400-65699600	Weak transcription	NH-A	brain
5	chr11:65690400-65699800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:65690400-65702000	Weak transcription	Fetal Brain Male	brain
7	chr11:65690600-65705000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr11:65690800-65701000	Weak transcription	Esophagus	oesophagus
9	chr11:65691000-65699600	Weak transcription	A549	lung
10	chr11:65691200-65699800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr11:65691200-65700000	Weak transcription	Brain Anterior Caudate	brain
12	chr11:65691200-65708600	Weak transcription	HSMM	muscle
13	chr11:65692600-65699400	Weak transcription	Fetal Lung	lung
14	chr11:65692600-65701600	Weak transcription	NHLF	lung
15	chr11:65692800-65699400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr11:65692800-65700200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr11:65693000-65699400	Weak transcription	Fetal Muscle Trunk	muscle
18	chr11:65693200-65699400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr11:65693400-65699400	Weak transcription	Placenta	Placenta
20	chr11:65693600-65701600	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr11:65694000-65708200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr11:65695400-65699400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr11:65695600-65699400	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr11:65695600-65699400	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr11:65695800-65699400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr11:65695800-65699600	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr11:65695800-65699800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr11:65695800-65699800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr11:65695800-65699800	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr11:65695800-65700000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr11:65695800-65705000	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr11:65696000-65699400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr11:65696200-65699400	Weak transcription	Osteobl	bone
34	chr11:65696400-65699600	Weak transcription	Fetal Muscle Leg	muscle
35	chr11:65696600-65699400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr11:65696600-65705000	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr11:65696800-65699800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr11:65696800-65699800	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr11:65696800-65700800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr11:65697000-65699200	Weak transcription	GM12878-XiMat	blood
41	chr11:65697000-65700000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr11:65697200-65699400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr11:65697600-65699400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr11:65698600-65700400	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr11:65698800-65699200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr11:65698800-65699600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr11:65698800-65700000	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr11:65698800-65700200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr11:65698800-65700200	Enhancers	Fetal Thymus	thymus
50	chr11:65698800-65700800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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