Variant report

Variant	rs56785523
Chromosome Location	chr11:71628373-71628374
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:71628021-71628616	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000254469	TF binding region

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

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs55673306	1.00[AFR][1000 genomes]
rs55718460	0.86[AFR][1000 genomes]
rs55724289	0.86[AFR][1000 genomes]
rs56160537	1.00[AFR][1000 genomes]
rs56249089	0.86[AFR][1000 genomes]
rs56304359	0.86[AFR][1000 genomes]
rs57683667	0.86[AFR][1000 genomes]
rs58408933	1.00[AFR][1000 genomes]
rs58895750	0.86[AFR][1000 genomes]
rs59722863	0.86[AFR][1000 genomes]
rs61051812	1.00[AFR][1000 genomes]
rs61537950	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530623	chr11:71088949-72020418	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
2	esv2758276	chr11:71363639-71657576	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	esv2759836	chr11:71363639-71657576	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	nsv428262	chr11:71363639-71804055	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71591400-71638200	Weak transcription	Right Ventricle	heart
2	chr11:71600000-71635800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr11:71606600-71638200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr11:71612800-71639000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:71614400-71638200	Weak transcription	Fetal Brain Male	brain
6	chr11:71614600-71638000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr11:71615200-71638600	Weak transcription	HUVEC	blood vessel
8	chr11:71621000-71630000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr11:71621200-71630200	Strong transcription	Fetal Stomach	stomach
10	chr11:71621600-71630200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr11:71621600-71630400	Strong transcription	Primary T cells from cord blood	blood
12	chr11:71621800-71630000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr11:71621800-71630000	Strong transcription	Fetal Muscle Leg	muscle
14	chr11:71621800-71630200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr11:71622400-71630200	Strong transcription	Thymus	Thymus
16	chr11:71622800-71629800	Strong transcription	Duodenum Mucosa	Duodenum
17	chr11:71622800-71630000	Strong transcription	Adipose Nuclei	Adipose
18	chr11:71622800-71630200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr11:71622800-71630200	Strong transcription	Fetal Lung	lung
20	chr11:71622800-71638200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr11:71623000-71628800	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr11:71623000-71629200	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr11:71623000-71630000	Strong transcription	Primary T helper cells PMA-I stimulated	--
24	chr11:71623000-71630000	Strong transcription	Lung	lung
25	chr11:71623000-71630200	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr11:71623000-71630200	Strong transcription	Stomach Smooth Muscle	stomach
27	chr11:71623000-71630400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr11:71623200-71628400	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr11:71623200-71629200	Strong transcription	Sigmoid Colon	Sigmoid Colon
30	chr11:71623200-71630000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr11:71623200-71630200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr11:71623400-71629800	Strong transcription	Primary neutrophils fromperipheralblood	blood
33	chr11:71623400-71630200	Strong transcription	Fetal Intestine Large	intestine
34	chr11:71623600-71638200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr11:71623600-71638400	Weak transcription	NHEK	skin
36	chr11:71623800-71629200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr11:71623800-71630200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr11:71623800-71638400	Weak transcription	HMEC	breast
39	chr11:71624000-71629000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr11:71624000-71629400	Strong transcription	HUES48 Cell Line	embryonic stem cell
41	chr11:71624000-71629600	Strong transcription	Primary B cells from peripheral blood	blood
42	chr11:71624000-71629800	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr11:71624000-71630000	Strong transcription	Fetal Thymus	thymus
44	chr11:71624000-71630200	Strong transcription	Primary T cells fromperipheralblood	blood
45	chr11:71624000-71630200	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr11:71624000-71630200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr11:71624000-71638200	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr11:71624000-71638800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr11:71624200-71629800	Strong transcription	Skeletal Muscle Female	skeletal muscle
50	chr11:71624200-71630000	Strong transcription	Duodenum Smooth Muscle	Duodenum

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