Variant report

Variant	rs7108380
Chromosome Location	chr11:62276372-62276373
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:62274977..62278202-chr11:62299637..62302170,3	MCF-7	breast:
2	chr11:62274768..62277804-chr11:62311507..62316657,6	MCF-7	breast:
3	chr11:62275811..62278092-chr11:62326912..62329535,2	MCF-7	breast:
4	chr11:62270607..62282151-chr11:62305075..62317987,34	MCF-7	breast:
5	chr11:62274660..62277446-chr11:62443371..62446014,2	MCF-7	breast:
6	chr11:62274579..62277992-chr11:62305357..62311305,7	MCF-7	breast:
7	chr11:62274872..62277646-chr11:62281160..62283730,2	K562	blood:
8	chr11:62275860..62278195-chr11:62302595..62304915,2	MCF-7	breast:
9	chr11:62275856..62280048-chr11:62301692..62305667,4	K562	blood:
10	chr11:62275619..62276391-chr11:62327954..62328806,2	MCF-7	breast:
11	chr11:62264606..62266453-chr11:62274794..62277331,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000257058	Chromatin interaction
ENSG00000124942	Chromatin interaction
ENSG00000250659	Chromatin interaction
ENSG00000162191	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11231120	0.87[AMR][1000 genomes]
rs11231121	0.85[EUR][1000 genomes]
rs11231128	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11231130	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11822224	1.00[CEU][hapmap]
rs12281588	0.95[EUR][1000 genomes]
rs12281651	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12291805	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12292433	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17157363	0.81[EUR][1000 genomes]
rs17157365	0.85[EUR][1000 genomes]
rs56234858	0.85[EUR][1000 genomes]
rs61312994	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61625484	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7105793	0.81[EUR][1000 genomes]
rs7123692	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7124130	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7127582	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7937521	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7951639	0.95[EUR][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	nsv915636	chr11:62016992-62713565	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1441 gene(s)	inside rSNPs	diseases
2	nsv532283	chr11:62201358-62863475	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1433 gene(s)	inside rSNPs	diseases
3	nsv832180	chr11:62201605-62364828	Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
4	nsv532284	chr11:62220043-62630253	Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1401 gene(s)	inside rSNPs	diseases
5	nsv897621	chr11:62230309-62290170	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	esv3584599	chr11:62262742-62398050	Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
7	esv1801128	chr11:62276347-62329897	Flanking Active TSS Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
8	esv1831183	chr11:62276347-62329897	Transcr. at gene 5' and 3' Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:62267000-62277400	Enhancers	Fetal Heart	heart
2	chr11:62270800-62281600	Weak transcription	Liver	Liver
3	chr11:62271800-62277200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr11:62272000-62276400	Enhancers	Left Ventricle	heart
5	chr11:62272000-62277800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr11:62273200-62276400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr11:62273200-62277400	Enhancers	Placenta	Placenta
8	chr11:62273400-62280600	Weak transcription	Aorta	Aorta
9	chr11:62273600-62276800	Enhancers	Duodenum Smooth Muscle	Duodenum
10	chr11:62274200-62276400	Enhancers	Ovary	ovary
11	chr11:62274200-62276600	Enhancers	Fetal Stomach	stomach
12	chr11:62274200-62281200	Weak transcription	Gastric	stomach
13	chr11:62274600-62277000	Enhancers	Fetal Muscle Leg	muscle
14	chr11:62274600-62280600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr11:62275200-62276600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr11:62275200-62276600	Enhancers	Brain Cingulate Gyrus	brain
17	chr11:62275200-62277400	Enhancers	Right Atrium	heart
18	chr11:62275400-62276600	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr11:62275400-62276600	Enhancers	Fetal Kidney	kidney
20	chr11:62275600-62276400	Enhancers	Primary B cells from cord blood	blood
21	chr11:62275600-62276400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr11:62275600-62276400	Flanking Active TSS	Duodenum Mucosa	Duodenum
23	chr11:62275600-62276600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
24	chr11:62275600-62276600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr11:62275600-62276600	Enhancers	Primary B cells from peripheral blood	blood
26	chr11:62275600-62276600	Flanking Active TSS	Brain Hippocampus Middle	brain
27	chr11:62275600-62276600	Flanking Active TSS	Colon Smooth Muscle	Colon
28	chr11:62275600-62276600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
29	chr11:62275600-62276600	Flanking Active TSS	Rectal Smooth Muscle	rectum
30	chr11:62275600-62276600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
31	chr11:62275600-62276600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
32	chr11:62275600-62276600	Flanking Active TSS	HepG2	liver
33	chr11:62275600-62276600	Flanking Active TSS	HSMMtube	muscle
34	chr11:62275600-62276800	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr11:62275600-62276800	Enhancers	Stomach Mucosa	stomach
36	chr11:62275600-62277400	Flanking Active TSS	A549	lung
37	chr11:62275600-62279600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr11:62275800-62276400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr11:62275800-62276400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr11:62275800-62276400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
41	chr11:62275800-62276400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
42	chr11:62275800-62276400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr11:62275800-62276400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr11:62275800-62276400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr11:62275800-62276400	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr11:62275800-62276400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr11:62275800-62276400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
48	chr11:62275800-62276400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr11:62275800-62276400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr11:62275800-62276400	Flanking Active TSS	Adipose Nuclei	Adipose

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