Variant report

Variant	rs56353029
Chromosome Location	chr11:71939905-71939906
allele	C/G
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	chr11:71939879-71940001	K562	blood:	n/a	n/a
2	POLR2A	chr11:71938219-71940039	PANC-1	pancreas:	n/a	n/a
3	POLR2A	chr11:71937494-71944480	GM12878	blood:	n/a	n/a
4	POLR2A	chr11:71938346-71942335	K562	blood:	n/a	n/a
5	POLR2A	chr11:71937836-71940183	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr11:71938396-71939944	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:71938045..71940787-chr11:72145330..72147281,2	K562	blood:
2	chr11:71899258..71901849-chr11:71937862..71940065,2	MCF-7	breast:

Variant related genes	Relation type
INPPL1	TF binding region
ENSG00000162129	Chromatin interaction
ENSG00000110195	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs56057597	1.00[ASN][1000 genomes]
rs60658818	1.00[ASN][1000 genomes]
rs61484955	1.00[ASN][1000 genomes]
rs70940825	0.82[AFR][1000 genomes]
rs7129700	1.00[ASN][1000 genomes]
rs73530719	1.00[ASN][1000 genomes]
rs9282688	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv897908	chr11:71927468-71956890	ZNF genes & repeats Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv897909	chr11:71927468-71960554	Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	18 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	chr11:71937000-71940000	Weak transcription	NHDF-Ad	bronchial
2	chr11:71937000-71940800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr11:71937000-71941400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr11:71937000-71949200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr11:71937000-71950200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr11:71937000-71950600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr11:71937000-71950600	Weak transcription	Psoas Muscle	Psoas
8	chr11:71937200-71940400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr11:71937400-71949600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr11:71937400-71950000	Strong transcription	NHLF	lung
11	chr11:71937600-71940000	Genic enhancers	Placenta	Placenta
12	chr11:71937600-71949000	Weak transcription	Right Atrium	heart
13	chr11:71937600-71949400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr11:71937800-71946400	Strong transcription	K562	blood
15	chr11:71937800-71947400	Strong transcription	Fetal Lung	lung
16	chr11:71937800-71948400	Strong transcription	Fetal Intestine Large	intestine
17	chr11:71937800-71948800	Strong transcription	Aorta	Aorta
18	chr11:71937800-71948800	Strong transcription	Spleen	Spleen
19	chr11:71937800-71949400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr11:71937800-71949400	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr11:71937800-71949400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr11:71937800-71950000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr11:71938000-71940000	Weak transcription	Stomach Mucosa	stomach
24	chr11:71938000-71941000	Weak transcription	Small Intestine	intestine
25	chr11:71938000-71941600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr11:71938000-71948600	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr11:71938000-71949200	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr11:71938200-71940200	Weak transcription	Fetal Brain Female	brain
29	chr11:71938200-71944600	Strong transcription	GM12878-XiMat	blood
30	chr11:71938200-71945200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr11:71938200-71948200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
32	chr11:71938200-71948800	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr11:71938200-71949600	Strong transcription	Liver	Liver
34	chr11:71938200-71949600	Strong transcription	Dnd41	blood
35	chr11:71938400-71947000	Strong transcription	Pancreas	Pancrea
36	chr11:71938400-71948000	Strong transcription	Colonic Mucosa	Colon
37	chr11:71938400-71950000	Strong transcription	NHEK	skin
38	chr11:71938400-71950400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr11:71938600-71940000	Weak transcription	Fetal Kidney	kidney
40	chr11:71938600-71948200	Strong transcription	HUES48 Cell Line	embryonic stem cell
41	chr11:71938600-71948200	Strong transcription	Gastric	stomach
42	chr11:71938600-71948200	Strong transcription	Sigmoid Colon	Sigmoid Colon
43	chr11:71938600-71949000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr11:71938600-71950000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr11:71938800-71940000	Weak transcription	Brain Angular Gyrus	brain
46	chr11:71938800-71940200	Genic enhancers	Fetal Muscle Trunk	muscle
47	chr11:71938800-71941200	Weak transcription	Fetal Heart	heart
48	chr11:71938800-71944600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr11:71938800-71945200	Strong transcription	Primary B cells from cord blood	blood
50	chr11:71938800-71946800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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