Variant report

Variant	rs4647569
Chromosome Location	chr11:65106456-65106457
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:65106213-65106530	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr11:65104850..65107379-chr11:65266146..65268534,3	K562	blood:
2	chr11:65106450..65111070-chr11:65119360..65123401,6	K562	blood:
3	chr11:65105160..65107912-chr11:65564139..65566619,2	MCF-7	breast:
4	chr11:65100322..65103953-chr11:65104304..65109119,7	MCF-7	breast:
5	chr11:65104784..65106691-chr11:65276749..65278262,2	K562	blood:
6	chr11:65100243..65104610-chr11:65105410..65109851,8	K562	blood:
7	chr11:65105589..65107850-chr11:65341352..65343496,2	K562	blood:
8	chr11:65105171..65109589-chr11:65119360..65123181,4	K562	blood:
9	chr11:65027562..65030484-chr11:65105645..65108132,2	MCF-7	breast:
10	chr11:65103664..65107529-chr11:65109355..65112247,3	MCF-7	breast:

No data

Variant related genes	Relation type
DPF2	TF binding region
ENSG00000251562	Chromatin interaction
ENSG00000173825	Chromatin interaction
ENSG00000255404	Chromatin interaction
ENSG00000014138	Chromatin interaction
ENSG00000133884	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2307266	1.00[AMR][1000 genomes]
rs3218610	1.00[AMR][1000 genomes]
rs4647570	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4647593	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7117137	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526181	chr11:64638041-65257329	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription 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 miRNA miRNA target site	1539 gene(s)	inside rSNPs	diseases
2	nsv832190	chr11:64978144-65127613	Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	esv2422285	chr11:65013294-65254540	Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	474 gene(s)	inside rSNPs	diseases
4	nsv897715	chr11:65083491-65427346	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	984 gene(s)	inside rSNPs	diseases
5	nsv897716	chr11:65083491-65481166	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	999 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65102400-65107600	Weak transcription	Pancreas	Pancrea
2	chr11:65102400-65107800	Weak transcription	Esophagus	oesophagus
3	chr11:65102600-65107400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr11:65102600-65107800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:65102600-65107800	Weak transcription	Aorta	Aorta
6	chr11:65102600-65108400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr11:65102800-65107200	Weak transcription	Brain Substantia Nigra	brain
8	chr11:65103000-65107600	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr11:65103000-65107800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr11:65103000-65107800	Weak transcription	NHEK	skin
11	chr11:65103000-65108000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr11:65103200-65106600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr11:65103200-65107000	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr11:65103200-65107400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr11:65103200-65107400	Weak transcription	NH-A	brain
16	chr11:65103200-65107600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr11:65103200-65107600	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr11:65103200-65107600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr11:65103200-65107800	Weak transcription	Adipose Nuclei	Adipose
20	chr11:65103200-65107800	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr11:65103200-65107800	Weak transcription	Psoas Muscle	Psoas
22	chr11:65103200-65107800	Weak transcription	Rectal Smooth Muscle	rectum
23	chr11:65103200-65108000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr11:65103200-65108000	Weak transcription	Fetal Kidney	kidney
25	chr11:65103200-65110800	Weak transcription	Small Intestine	intestine
26	chr11:65103200-65112000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr11:65103200-65112800	Weak transcription	Stomach Mucosa	stomach
28	chr11:65103200-65121200	Strong transcription	Fetal Intestine Small	intestine
29	chr11:65103400-65107800	Weak transcription	NHLF	lung
30	chr11:65103400-65108600	Weak transcription	Fetal Brain Male	brain
31	chr11:65103400-65119600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr11:65103400-65120800	Strong transcription	Fetal Muscle Leg	muscle
33	chr11:65103400-65121200	Strong transcription	Fetal Stomach	stomach
34	chr11:65103600-65120200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr11:65103600-65120200	Strong transcription	Fetal Muscle Trunk	muscle
36	chr11:65103800-65117400	Strong transcription	Fetal Thymus	thymus
37	chr11:65104000-65106600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr11:65104400-65121400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr11:65105000-65114600	Strong transcription	GM12878-XiMat	blood
40	chr11:65105000-65119200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr11:65105000-65121000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr11:65105400-65106600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr11:65105400-65120200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr11:65105600-65106600	Enhancers	Left Ventricle	heart
45	chr11:65105600-65106600	Genic enhancers	Skeletal Muscle Male	skeletal muscle
46	chr11:65105600-65106600	Genic enhancers	Skeletal Muscle Female	skeletal muscle
47	chr11:65105600-65107400	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr11:65105600-65107600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
49	chr11:65105600-65120000	Strong transcription	Primary B cells from cord blood	blood
50	chr11:65105600-65120400	Strong transcription	Primary T cells from cord blood	blood

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