Variant report

Variant	rs538380993
Chromosome Location	chr11:64575630-64575631
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:64574793-64575907	SK-N-MC	brain:	n/a	n/a
2	POLR2A	chr11:64575363-64575917	HepG2	liver:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:64575575..64578460-chr11:64644399..64646025,3	MCF-7	breast:
2	chr11:64563150..64565307-chr11:64574970..64577233,2	K562	blood:
3	chr11:64575180..64578002-chr11:65268196..65269989,2	K562	blood:
4	chr11:64574843..64581404-chr11:64607394..64613763,11	MCF-7	breast:
5	chr11:64571014..64575800-chr11:64609684..64614421,7	K562	blood:
6	chr11:64573809..64575910-chr11:64600616..64603270,2	K562	blood:
7	chr11:64544159..64547610-chr11:64575495..64579776,5	K562	blood:
8	chr11:64526958..64529001-chr11:64574985..64577155,2	MCF-7	breast:
9	chr11:64574624..64577319-chr11:64601791..64604479,3	MCF-7	breast:
10	chr11:64543661..64548104-chr11:64572931..64579605,12	MCF-7	breast:
11	chr11:64556435..64558836-chr11:64573959..64576941,2	MCF-7	breast:
12	chr11:64575458..64578440-chr11:64655373..64657012,2	MCF-7	breast:

No data

Variant related genes	Relation type
MEN1	TF binding region
MAP4K2	TF binding region
ENSG00000110047	Chromatin interaction
ENSG00000068976	Chromatin interaction
ENSG00000168067	Chromatin interaction
ENSG00000168066	Chromatin interaction
ENSG00000251562	Chromatin interaction
ENSG00000269038	Chromatin interaction
ENSG00000171219	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897694	chr11:64334114-64584959	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
2	nsv528506	chr11:64345448-64701030	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1075 gene(s)	inside rSNPs	diseases
3	nsv897695	chr11:64357072-64701030	Weak transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1075 gene(s)	inside rSNPs	diseases
4	nsv897697	chr11:64447420-64584959	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
5	nsv897698	chr11:64447420-64621573	Active TSS Bivalent Enhancer Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription 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	82 gene(s)	inside rSNPs	diseases
6	nsv897699	chr11:64447420-64638041	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
7	nsv897700	chr11:64447420-64701030	Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak 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	1071 gene(s)	inside rSNPs	diseases
8	nsv468597	chr11:64477050-64584959	Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
9	nsv468598	chr11:64477050-64584959	Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
10	nsv555203	chr11:64477050-64584959	Strong transcription Genic enhancers Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking 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	77 gene(s)	inside rSNPs	diseases
11	nsv1049744	chr11:64486615-64630149	Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
12	nsv832189	chr11:64487183-64620199	Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
13	nsv469962	chr11:64527080-64621573	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
14	nsv897702	chr11:64532579-64584231	Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
15	nsv519478	chr11:64546391-64584987	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
16	esv3446861	chr11:64575295-64575636	Enhancers Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	8 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	chr11:64571400-64577000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:64571600-64576600	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr11:64571800-64575800	Strong transcription	Thymus	Thymus
4	chr11:64571800-64576200	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:64571800-64576600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr11:64571800-64576600	Weak transcription	GM12878-XiMat	blood
7	chr11:64571800-64576800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr11:64571800-64576800	Weak transcription	Psoas Muscle	Psoas
9	chr11:64571800-64576800	Weak transcription	HUVEC	blood vessel
10	chr11:64571800-64576800	Weak transcription	NH-A	brain
11	chr11:64571800-64577000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr11:64571800-64577000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr11:64571800-64577000	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr11:64571800-64577000	Weak transcription	HSMMtube	muscle
15	chr11:64572000-64575800	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr11:64572000-64575800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr11:64572000-64575800	Strong transcription	Primary T cells from cord blood	blood
18	chr11:64572000-64576000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr11:64572000-64576000	Strong transcription	Brain Cingulate Gyrus	brain
20	chr11:64572000-64576000	Strong transcription	Fetal Lung	lung
21	chr11:64572000-64576000	Strong transcription	Fetal Thymus	thymus
22	chr11:64572000-64576000	Strong transcription	NHEK	skin
23	chr11:64572000-64576200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr11:64572000-64576200	Strong transcription	Brain Inferior Temporal Lobe	brain
25	chr11:64572000-64576400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr11:64572000-64576400	Strong transcription	Fetal Stomach	stomach
27	chr11:64572000-64576600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr11:64572000-64576800	Strong transcription	Fetal Intestine Small	intestine
29	chr11:64572000-64577000	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr11:64572000-64577000	Weak transcription	Small Intestine	intestine
31	chr11:64572000-64577400	Weak transcription	Aorta	Aorta
32	chr11:64572200-64575800	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr11:64572200-64575800	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr11:64572200-64575800	Strong transcription	Primary B cells from cord blood	blood
35	chr11:64572200-64576200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr11:64572200-64576200	Strong transcription	Fetal Intestine Large	intestine
37	chr11:64572200-64576600	Strong transcription	Fetal Muscle Leg	muscle
38	chr11:64572200-64576800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr11:64572200-64576800	Genic enhancers	Dnd41	blood
40	chr11:64572200-64576800	Weak transcription	HMEC	breast
41	chr11:64572400-64575800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr11:64572400-64575800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr11:64572400-64575800	Strong transcription	Adipose Nuclei	Adipose
44	chr11:64572400-64575800	Strong transcription	Liver	Liver
45	chr11:64572400-64576000	Strong transcription	Primary hematopoietic stem cells	blood
46	chr11:64572400-64576000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr11:64572400-64576800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr11:64572400-64576800	Weak transcription	Fetal Heart	heart
49	chr11:64572600-64575800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr11:64572600-64575800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell

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