Variant report

Variant	rs714548
Chromosome Location	chr11:71944242-71944243
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	POLR2A	chr11:71943596-71944983	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr11:71942795-71945026	K562	blood:	n/a	n/a
3	POLR2A	chr11:71941990-71945125	K562	blood:	n/a	n/a
4	POLR2A	chr11:71943768-71944326	GM12891	blood:	n/a	n/a
5	POLR2A	chr11:71937494-71944480	GM12878	blood:	n/a	n/a
6	POLR2A	chr11:71943584-71944303	GM12878	blood:	n/a	n/a
7	POLR2A	chr11:71943664-71944316	GM12892	blood:	n/a	n/a
8	POLR2A	chr11:71944196-71944337	A549	lung:	n/a	n/a
9	POLR2A	chr11:71944140-71944580	SK-N-SH	brain:	n/a	n/a
10	POLR2A	chr11:71943796-71944481	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:71821211..71823051-chr11:71942558..71945428,2	K562	blood:
2	chr11:71815942..71818522-chr11:71943866..71946809,2	K562	blood:

Variant related genes	Relation type
INPPL1	TF binding region
ENSG00000184154	Chromatin interaction
ENSG00000110200	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs17162091	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17847219	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2365379	0.85[ASN][1000 genomes]
rs55888146	0.85[ASN][1000 genomes]
rs55970551	0.84[ASN][1000 genomes]
rs55989089	0.85[ASN][1000 genomes]
rs57191897	0.88[ASN][1000 genomes]
rs57275811	0.88[ASN][1000 genomes]
rs59755180	0.85[ASN][1000 genomes]
rs60549044	0.85[ASN][1000 genomes]
rs61749195	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7122350	0.84[ASN][1000 genomes]
rs72477719	0.91[EUR][1000 genomes]
rs72477720	0.91[EUR][1000 genomes]
rs73532651	0.84[ASN][1000 genomes]
rs7941873	0.82[CHB][hapmap];0.83[CHD][hapmap];0.85[JPT][hapmap]

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	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

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	chr11:71937800-71946400	Strong transcription	K562	blood
10	chr11:71937800-71947400	Strong transcription	Fetal Lung	lung
11	chr11:71937800-71948400	Strong transcription	Fetal Intestine Large	intestine
12	chr11:71937800-71948800	Strong transcription	Aorta	Aorta
13	chr11:71937800-71948800	Strong transcription	Spleen	Spleen
14	chr11:71937800-71949400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:71937800-71949400	Strong transcription	Primary neutrophils fromperipheralblood	blood
16	chr11:71937800-71949400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr11:71937800-71950000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr11:71938000-71948600	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr11:71938000-71949200	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr11:71938200-71944600	Strong transcription	GM12878-XiMat	blood
21	chr11:71938200-71945200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr11:71938200-71948200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
23	chr11:71938200-71948800	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr11:71938200-71949600	Strong transcription	Liver	Liver
25	chr11:71938200-71949600	Strong transcription	Dnd41	blood
26	chr11:71938400-71947000	Strong transcription	Pancreas	Pancrea
27	chr11:71938400-71948000	Strong transcription	Colonic Mucosa	Colon
28	chr11:71938400-71950000	Strong transcription	NHEK	skin
29	chr11:71938400-71950400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr11:71938600-71948200	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr11:71938600-71948200	Strong transcription	Gastric	stomach
32	chr11:71938600-71948200	Strong transcription	Sigmoid Colon	Sigmoid Colon
33	chr11:71938600-71949000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr11:71938600-71950000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr11:71938800-71944600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr11:71938800-71945200	Strong transcription	Primary B cells from cord blood	blood
37	chr11:71938800-71946800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr11:71938800-71947800	Strong transcription	Duodenum Mucosa	Duodenum
39	chr11:71938800-71948600	Weak transcription	Fetal Brain Male	brain
40	chr11:71938800-71948800	Strong transcription	Esophagus	oesophagus
41	chr11:71938800-71949200	Strong transcription	Osteobl	bone
42	chr11:71939000-71948000	Strong transcription	Fetal Intestine Small	intestine
43	chr11:71939000-71949000	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr11:71939000-71949000	Strong transcription	Primary hematopoietic stem cells	blood
45	chr11:71939000-71949400	Strong transcription	Ovary	ovary
46	chr11:71939000-71949400	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr11:71939000-71949400	Strong transcription	Thymus	Thymus
48	chr11:71939200-71946200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr11:71939200-71946600	Strong transcription	HepG2	liver
50	chr11:71939200-71947200	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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