Variant report

Variant	rs12417459
Chromosome Location	chr11:71947269-71947270
allele	A/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	MXI1	chr11:71947084-71947736	IMR90	lung:	n/a	n/a
2	POLR2A	chr11:71944622-71955431	SK-N-SH	brain:	n/a	n/a
3	YY1	chr11:71946802-71947473	SK-N-SH_RA	brain:	n/a	chr11:71947252-71947268
4	POLR2A	chr11:71945957-71952577	SK-N-SH	brain:	n/a	n/a
5	CTCF	chr11:71947120-71947270	SK-N-SH_RA	brain:	n/a	n/a
6	RAD21	chr11:71946953-71947431	SK-N-SH_RA	brain:	n/a	n/a
7	POLR2A	chr11:71947168-71947443	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:71944736..71947658-chr11:71947860..71951396,7	K562	blood:

Variant related genes	Relation type
INPPL1	TF binding region
ENSG00000165458	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12417751	0.92[CHB][hapmap];0.83[GIH][hapmap]
rs1540087	0.82[CHB][hapmap]
rs17162056	0.92[CHB][hapmap]
rs17162064	0.82[CHB][hapmap]
rs17162069	0.82[CHB][hapmap]
rs3763796	0.82[CHB][hapmap]
rs58453558	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs70940825	0.83[ASN][1000 genomes]
rs7109250	0.82[CHB][hapmap]
rs7125189	0.82[CHB][hapmap]

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	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
4	nsv555404	chr11:71944242-71949952	Strong transcription Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv555405	chr11:71944667-71952345	Strong transcription Bivalent/Poised TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	10 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	chr11:71937000-71949200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr11:71937000-71950200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr11:71937000-71950600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr11:71937000-71950600	Weak transcription	Psoas Muscle	Psoas
5	chr11:71937400-71949600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr11:71937400-71950000	Strong transcription	NHLF	lung
7	chr11:71937600-71949000	Weak transcription	Right Atrium	heart
8	chr11:71937600-71949400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr11:71937800-71947400	Strong transcription	Fetal Lung	lung
10	chr11:71937800-71948400	Strong transcription	Fetal Intestine Large	intestine
11	chr11:71937800-71948800	Strong transcription	Aorta	Aorta
12	chr11:71937800-71948800	Strong transcription	Spleen	Spleen
13	chr11:71937800-71949400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:71937800-71949400	Strong transcription	Primary neutrophils fromperipheralblood	blood
15	chr11:71937800-71949400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr11:71937800-71950000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr11:71938000-71948600	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr11:71938000-71949200	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr11:71938200-71948200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr11:71938200-71948800	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr11:71938200-71949600	Strong transcription	Liver	Liver
22	chr11:71938200-71949600	Strong transcription	Dnd41	blood
23	chr11:71938400-71948000	Strong transcription	Colonic Mucosa	Colon
24	chr11:71938400-71950000	Strong transcription	NHEK	skin
25	chr11:71938400-71950400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr11:71938600-71948200	Strong transcription	HUES48 Cell Line	embryonic stem cell
27	chr11:71938600-71948200	Strong transcription	Gastric	stomach
28	chr11:71938600-71948200	Strong transcription	Sigmoid Colon	Sigmoid Colon
29	chr11:71938600-71949000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr11:71938600-71950000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr11:71938800-71947800	Strong transcription	Duodenum Mucosa	Duodenum
32	chr11:71938800-71948600	Weak transcription	Fetal Brain Male	brain
33	chr11:71938800-71948800	Strong transcription	Esophagus	oesophagus
34	chr11:71938800-71949200	Strong transcription	Osteobl	bone
35	chr11:71939000-71948000	Strong transcription	Fetal Intestine Small	intestine
36	chr11:71939000-71949000	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr11:71939000-71949000	Strong transcription	Primary hematopoietic stem cells	blood
38	chr11:71939000-71949400	Strong transcription	Ovary	ovary
39	chr11:71939000-71949400	Strong transcription	Rectal Mucosa Donor 29	rectum
40	chr11:71939000-71949400	Strong transcription	Thymus	Thymus
41	chr11:71939200-71948200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
42	chr11:71939200-71948200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr11:71939200-71948400	Strong transcription	Lung	lung
44	chr11:71939200-71948600	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr11:71939200-71948800	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr11:71939200-71948800	Strong transcription	Rectal Mucosa Donor 31	rectum
47	chr11:71939200-71948800	Strong transcription	A549	lung
48	chr11:71939200-71949200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr11:71939200-71949200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr11:71939400-71947400	Strong transcription	H9 Cell Line	embryonic stem cell

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