Variant report

Variant	rs2071313
Chromosome Location	chr11:64572602-64572603
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:64572478-64572643	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr11:64572173-64572748	K562	blood:	n/a	n/a
3	POLR2A	chr11:64572597-64572603	ProgFib	skin:	n/a	n/a
4	POLR2A	chr11:64572542-64572621	HepG2	liver:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:64567558..64572906-chr11:64572928..64575629,5	MCF-7	breast:
2	chr11:64570822..64573255-chr11:64603149..64605696,2	K562	blood:
3	chr11:64571157..64572955-chr11:64582092..64585314,3	K562	blood:
4	chr11:64542437..64548103-chr11:64565883..64573066,9	K562	blood:
5	chr11:64569062..64575536-chr11:64608720..64614805,15	MCF-7	breast:
6	chr11:64569782..64572996-chr11:64862581..64865602,3	K562	blood:
7	chr11:64568677..64572675-chr11:64611050..64613930,4	K562	blood:
8	chr11:64571014..64575800-chr11:64609684..64614421,7	K562	blood:
9	chr11:64552481..64554054-chr11:64570042..64572639,2	MCF-7	breast:
10	chr11:64569309..64573413-chr11:64882963..64885967,3	K562	blood:
11	chr11:64568489..64574764-chr11:64609155..64613913,19	MCF-7	breast:
12	chr11:64568159..64573413-chr11:64882450..64885409,5	K562	blood:
13	chr11:64509857..64513722-chr11:64571129..64574033,3	MCF-7	breast:

No data

Variant related genes	Relation type
MAP4K2	TF binding region
ENSG00000255173	Chromatin interaction
ENSG00000133895	Chromatin interaction
ENSG00000168066	Chromatin interaction
ENSG00000171219	Chromatin interaction
ENSG00000068831	Chromatin interaction
ENSG00000269038	Chromatin interaction
ENSG00000269290	Chromatin interaction
ENSG00000149823	Chromatin interaction
ENSG00000174276	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs559566	0.85[EUR][1000 genomes]
rs7936532	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 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	nsv555198	chr11:64373899-64573589	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	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
9	nsv555202	chr11:64477050-64573589	Strong transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	nsv897703	chr11:64538346-64574200	Strong transcription Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
18	nsv519117	chr11:64546391-64573589	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
19	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
20	nsv555204	chr11:64561200-64574200	Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
21	nsv555205	chr11:64561200-64575505	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
22	nsv555206	chr11:64563757-64574200	Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 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	chr11:64571600-64572800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr11:64571600-64572800	Genic enhancers	Fetal Muscle Trunk	muscle
4	chr11:64571600-64572800	Genic enhancers	Placenta	Placenta
5	chr11:64571600-64573000	Genic enhancers	Right Ventricle	heart
6	chr11:64571600-64574400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr11:64571600-64576600	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr11:64571800-64572800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr11:64571800-64572800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr11:64571800-64572800	Genic enhancers	Pancreas	Pancrea
11	chr11:64571800-64573200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr11:64571800-64573200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr11:64571800-64573400	Strong transcription	Primary T helper cells PMA-I stimulated	--
14	chr11:64571800-64573600	Genic enhancers	Stomach Smooth Muscle	stomach
15	chr11:64571800-64574400	Genic enhancers	Spleen	Spleen
16	chr11:64571800-64575000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr11:64571800-64575200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr11:64571800-64575600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr11:64571800-64575800	Strong transcription	Thymus	Thymus
20	chr11:64571800-64576200	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr11:64571800-64576600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr11:64571800-64576600	Weak transcription	GM12878-XiMat	blood
23	chr11:64571800-64576800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr11:64571800-64576800	Weak transcription	Psoas Muscle	Psoas
25	chr11:64571800-64576800	Weak transcription	HUVEC	blood vessel
26	chr11:64571800-64576800	Weak transcription	NH-A	brain
27	chr11:64571800-64577000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr11:64571800-64577000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr11:64571800-64577000	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr11:64571800-64577000	Weak transcription	HSMMtube	muscle
31	chr11:64572000-64572800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr11:64572000-64572800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr11:64572000-64572800	Strong transcription	Muscle Satellite Cultured Cells	--
34	chr11:64572000-64573000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr11:64572000-64573400	Strong transcription	Duodenum Smooth Muscle	Duodenum
36	chr11:64572000-64573400	Strong transcription	A549	lung
37	chr11:64572000-64573600	Weak transcription	Rectal Smooth Muscle	rectum
38	chr11:64572000-64573800	Weak transcription	HepG2	liver
39	chr11:64572000-64574400	Weak transcription	NHDF-Ad	bronchial
40	chr11:64572000-64575000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr11:64572000-64575000	Strong transcription	Brain Germinal Matrix	brain
42	chr11:64572000-64575000	Strong transcription	Duodenum Mucosa	Duodenum
43	chr11:64572000-64575200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr11:64572000-64575200	Strong transcription	Fetal Brain Female	brain
45	chr11:64572000-64575200	Weak transcription	Fetal Kidney	kidney
46	chr11:64572000-64575200	Strong transcription	Lung	lung
47	chr11:64572000-64575400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr11:64572000-64575400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr11:64572000-64575400	Strong transcription	Sigmoid Colon	Sigmoid Colon
50	chr11:64572000-64575600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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