Variant report

Variant	rs4980510
Chromosome Location	chr11:63706843-63706844
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:63682242..63690244-chr11:63703955..63713214,18	K562	blood:
2	chr11:63531277..63535286-chr11:63705300..63707994,3	MCF-7	breast:
3	chr11:63655390..63658583-chr11:63705235..63708313,3	K562	blood:
4	chr11:63683456..63690158-chr11:63704393..63714412,17	K562	blood:
5	chr11:63601389..63603149-chr11:63706339..63708895,2	K562	blood:
6	chr11:63703471..63707661-chr11:63741980..63743610,3	K562	blood:
7	chr11:63704888..63707484-chr11:63951709..63953319,2	MCF-7	breast:
8	chr11:63705424..63708366-chr11:63719461..63721078,2	MCF-7	breast:
9	chr11:63683018..63687693-chr11:63704987..63708969,9	MCF-7	breast:
10	chr11:63683295..63687930-chr11:63703819..63708534,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000176340	Chromatin interaction
ENSG00000168439	Chromatin interaction
ENSG00000256280	Chromatin interaction
ENSG00000188070	Chromatin interaction
ENSG00000256100	Chromatin interaction
ENSG00000072518	Chromatin interaction
ENSG00000167771	Chromatin interaction
ENSG00000110583	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1187867	1.00[AMR][1000 genomes]
rs1211783	1.00[AMR][1000 genomes]
rs12291411	1.00[EUR][1000 genomes]
rs161053	1.00[ASW][hapmap]
rs224174	1.00[ASW][hapmap]
rs3019784	1.00[AMR][1000 genomes]
rs3132752	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs320119	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs320120	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs320123	1.00[AMR][1000 genomes]
rs320127	1.00[ASW][hapmap];0.87[YRI][hapmap]
rs320147	1.00[AMR][1000 genomes]
rs320148	1.00[AMR][1000 genomes]
rs320149	1.00[YRI][hapmap]
rs320153	1.00[AMR][1000 genomes]
rs34036129	1.00[AMR][1000 genomes]
rs35352499	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4472946	1.00[ASW][hapmap]
rs497037	1.00[ASW][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs4980513	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs565004	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs576548	0.85[YRI][hapmap];1.00[AMR][1000 genomes]
rs60969355	1.00[AMR][1000 genomes]
rs7116315	1.00[AMR][1000 genomes]
rs7126106	1.00[AMR][1000 genomes]
rs7126239	1.00[AMR][1000 genomes]
rs7130472	1.00[AMR][1000 genomes]
rs901492	0.84[AFR][1000 genomes];1.00[AMR][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	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	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
5	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
6	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
7	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
8	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
9	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
10	esv3321721	chr11:63705201-63707749	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63705000-63707400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:63705200-63707200	Active TSS	Colonic Mucosa	Colon
3	chr11:63705200-63707600	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr11:63705200-63707600	Active TSS	H9 Cell Line	embryonic stem cell
5	chr11:63705200-63707600	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr11:63705200-63707600	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr11:63705200-63708400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr11:63705400-63707000	Active TSS	H1 Cell Line	embryonic stem cell
9	chr11:63705400-63707200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
10	chr11:63705400-63707600	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr11:63705400-63707600	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr11:63705400-63707600	Active TSS	Fetal Intestine Large	intestine
13	chr11:63705400-63707800	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr11:63705400-63708000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr11:63705400-63708200	Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr11:63705600-63707000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
17	chr11:63705600-63707000	Active TSS	Brain Germinal Matrix	brain
18	chr11:63705600-63707000	Active TSS	Gastric	stomach
19	chr11:63705600-63707200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr11:63705600-63707200	Active TSS	Duodenum Smooth Muscle	Duodenum
21	chr11:63705600-63707200	Active TSS	Rectal Smooth Muscle	rectum
22	chr11:63705600-63707400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr11:63705600-63707400	Active TSS	Psoas Muscle	Psoas
24	chr11:63705600-63707600	Active TSS	iPS-18 Cell Line	embryonic stem cell
25	chr11:63705600-63707600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr11:63705600-63707600	Active TSS	Fetal Kidney	kidney
27	chr11:63705800-63707000	Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr11:63705800-63707000	Active TSS	Esophagus	oesophagus
29	chr11:63705800-63707000	Active TSS	Placenta Amnion	Placenta Amnion
30	chr11:63705800-63707000	Active TSS	Sigmoid Colon	Sigmoid Colon
31	chr11:63705800-63707200	Active TSS	Ovary	ovary
32	chr11:63705800-63707200	Active TSS	Small Intestine	intestine
33	chr11:63705800-63707400	Active TSS	Aorta	Aorta
34	chr11:63705800-63707400	Active TSS	Colon Smooth Muscle	Colon
35	chr11:63705800-63707400	Active TSS	Lung	lung
36	chr11:63705800-63707400	Active TSS	NHDF-Ad	bronchial
37	chr11:63705800-63707600	Active TSS	A549	lung
38	chr11:63706000-63707000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr11:63706000-63707000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr11:63706000-63707000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr11:63706000-63707000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
42	chr11:63706000-63707000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
43	chr11:63706000-63707000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr11:63706000-63707000	Active TSS	Brain Angular Gyrus	brain
45	chr11:63706000-63707000	Active TSS	Brain Anterior Caudate	brain
46	chr11:63706000-63707000	Active TSS	Brain Cingulate Gyrus	brain
47	chr11:63706000-63707000	Active TSS	Brain Inferior Temporal Lobe	brain
48	chr11:63706000-63707000	Active TSS	Duodenum Mucosa	Duodenum
49	chr11:63706000-63707000	Active TSS	Fetal Muscle Leg	muscle
50	chr11:63706000-63707000	Active TSS	Fetal Stomach	stomach

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