Variant report

Variant	rs4980513
Chromosome Location	chr11:63720086-63720087
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:63705424..63708366-chr11:63719461..63721078,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000110583	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1187867	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1211783	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3019784	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3132752	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs320119	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs320120	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs320123	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs320147	1.00[AMR][1000 genomes]
rs320148	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs320149	0.86[AFR][1000 genomes]
rs320153	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34036129	1.00[AMR][1000 genomes]
rs35352499	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs497037	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4980510	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs565004	1.00[AMR][1000 genomes]
rs576548	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60969355	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6591828	0.90[AFR][1000 genomes]
rs6591829	0.92[AFR][1000 genomes]
rs7112935	0.81[AFR][1000 genomes]
rs7116315	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7126106	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7126239	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7130472	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7130979	0.90[AFR][1000 genomes]
rs901492	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	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
3	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
4	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
5	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
6	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
7	nsv897639	chr11:63691049-63844683	Bivalent Enhancer Active TSS Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
8	esv1849906	chr11:63719273-63880383	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63707200-63724200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:63707400-63721400	Weak transcription	Small Intestine	intestine
3	chr11:63707600-63720200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr11:63708200-63723400	Weak transcription	NH-A	brain
5	chr11:63713200-63725400	Weak transcription	Psoas Muscle	Psoas
6	chr11:63713200-63725800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr11:63713400-63721200	Weak transcription	Stomach Mucosa	stomach
8	chr11:63713400-63721600	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr11:63713400-63721600	Weak transcription	Ovary	ovary
10	chr11:63713400-63724200	Strong transcription	K562	blood
11	chr11:63713400-63725200	Strong transcription	Fetal Intestine Small	intestine
12	chr11:63713400-63725400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr11:63713400-63725800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:63713400-63726200	Strong transcription	Fetal Stomach	stomach
15	chr11:63713400-63726800	Weak transcription	Fetal Brain Male	brain
16	chr11:63713400-63733800	Weak transcription	Right Atrium	heart
17	chr11:63713600-63723000	Weak transcription	Fetal Heart	heart
18	chr11:63713600-63724200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chr11:63713600-63724200	Strong transcription	Cortex derived primary cultured neurospheres	brain
20	chr11:63713600-63724400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr11:63713600-63725200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr11:63713600-63726000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr11:63713800-63724400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr11:63713800-63726000	Strong transcription	Fetal Muscle Leg	muscle
25	chr11:63714000-63726200	Strong transcription	Fetal Muscle Trunk	muscle
26	chr11:63714600-63720200	Weak transcription	A549	lung
27	chr11:63714600-63720800	Weak transcription	Primary B cells from cord blood	blood
28	chr11:63714600-63720800	Weak transcription	Fetal Kidney	kidney
29	chr11:63714600-63721600	Weak transcription	Colon Smooth Muscle	Colon
30	chr11:63715200-63720800	Weak transcription	Rectal Smooth Muscle	rectum
31	chr11:63716400-63724000	Strong transcription	Sigmoid Colon	Sigmoid Colon
32	chr11:63717600-63726200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr11:63717600-63726200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr11:63717800-63724000	Strong transcription	HSMMtube	muscle
35	chr11:63717800-63726000	Strong transcription	Brain Germinal Matrix	brain
36	chr11:63717800-63726000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr11:63718200-63721000	Genic enhancers	Fetal Thymus	thymus
38	chr11:63718200-63721200	Enhancers	Primary T killer memory cells from peripheral blood	blood
39	chr11:63718200-63721600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr11:63718200-63724000	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr11:63718200-63725800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr11:63718400-63720400	Genic enhancers	Dnd41	blood
43	chr11:63718400-63720600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr11:63718800-63726000	Strong transcription	Fetal Brain Female	brain
45	chr11:63719000-63720600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
46	chr11:63719000-63720600	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr11:63719000-63721000	Enhancers	Primary T helper naive cells from peripheral blood	blood
48	chr11:63719000-63724000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr11:63719000-63724000	Strong transcription	Hela-S3	cervix
50	chr11:63719000-63724200	Strong transcription	Fetal Lung	lung

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