Variant report

Variant	rs7927718
Chromosome Location	chr11:34375880-34375881
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:34352862..34355628-chr11:34375081..34377214,3	MCF-7	breast:
2	chr11:34195960..34197951-chr11:34375178..34377158,2	MCF-7	breast:

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10742314	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10768059	0.82[AMR][1000 genomes]
rs10768060	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10768061	0.81[EUR][1000 genomes]
rs10768062	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10768063	0.81[EUR][1000 genomes]
rs10768064	0.81[EUR][1000 genomes]
rs10768065	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10768066	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10768067	0.81[EUR][1000 genomes]
rs10768068	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10768069	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10836190	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10836191	0.81[EUR][1000 genomes]
rs10836195	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10836196	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10836197	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11032621	0.82[AMR][1000 genomes]
rs11032624	0.81[EUR][1000 genomes]
rs11032625	0.81[EUR][1000 genomes]
rs11032627	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11032628	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11032631	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11032632	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11032634	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11032635	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11032642	0.84[EUR][1000 genomes]
rs12296013	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1810506	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1810507	0.81[EUR][1000 genomes]
rs1883736	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1925368	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1925371	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1925372	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1925374	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2001176	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2092485	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3740795	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3740796	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3817990	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3981191	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3981192	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4140544	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4993520	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6484710	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6484711	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7110380	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7124239	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs742634	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7927418	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs910088	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897205	chr11:34248229-34507213	Enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv897207	chr11:34253683-34621004	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv897208	chr11:34257064-34562247	Strong transcription Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv897209	chr11:34309519-34548906	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv897210	chr11:34349427-34381075	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34364200-34376600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:34367000-34376200	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr11:34367400-34376400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr11:34367800-34376400	Weak transcription	Pancreas	Pancrea
5	chr11:34368200-34376600	Weak transcription	Brain Angular Gyrus	brain
6	chr11:34368400-34376200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr11:34368400-34377800	Weak transcription	Gastric	stomach
8	chr11:34368600-34376400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr11:34368800-34376200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr11:34368800-34376200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr11:34370800-34376400	Weak transcription	Lung	lung
12	chr11:34371000-34376400	Weak transcription	Fetal Heart	heart
13	chr11:34371000-34376400	Weak transcription	Fetal Thymus	thymus
14	chr11:34371400-34376400	Weak transcription	Stomach Smooth Muscle	stomach
15	chr11:34371400-34376800	Weak transcription	Colon Smooth Muscle	Colon
16	chr11:34371600-34376200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr11:34371800-34376200	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr11:34371800-34376200	Weak transcription	Placenta	Placenta
19	chr11:34371800-34376200	Weak transcription	Hela-S3	cervix
20	chr11:34372000-34376200	Weak transcription	HSMM	muscle
21	chr11:34372000-34376200	Weak transcription	NH-A	brain
22	chr11:34372000-34377200	Weak transcription	Aorta	Aorta
23	chr11:34372200-34376200	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr11:34372800-34376400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr11:34373000-34376200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr11:34373000-34376200	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr11:34373000-34376200	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr11:34374600-34376400	Weak transcription	Psoas Muscle	Psoas
29	chr11:34374800-34376600	Enhancers	Liver	Liver
30	chr11:34375000-34376200	Enhancers	A549	lung
31	chr11:34375000-34376400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr11:34375000-34376400	Active TSS	GM12878-XiMat	blood
33	chr11:34375200-34376400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr11:34375200-34377000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr11:34375400-34376000	Flanking Active TSS	HepG2	liver
36	chr11:34375400-34377400	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr11:34375600-34377000	Enhancers	Brain Substantia Nigra	brain
38	chr11:34375600-34378000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr11:34375800-34376000	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr11:34375800-34376200	Weak transcription	Right Ventricle	heart
41	chr11:34375800-34376200	Enhancers	HSMMtube	muscle
42	chr11:34375800-34376400	Enhancers	Left Ventricle	heart
43	chr11:34375800-34376600	Weak transcription	Fetal Brain Female	brain
44	chr11:34375800-34376600	Enhancers	Right Atrium	heart
45	chr11:34375800-34378000	Flanking Active TSS	Brain Germinal Matrix	brain

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