Variant report

Variant	rs4910149
Chromosome Location	chr11:10533056-10533057
allele	A/C
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	chr11:10532646-10533186	H1-neurons	neurons:	n/a	n/a
2	POLR2A	chr11:10532392-10535141	K562	blood:	n/a	n/a
3	NANOG	chr11:10532922-10533208	H1-hESC	embryonic stem cell:	n/a	n/a
4	NANOG	chr11:10532954-10533267	H1-hESC	embryonic stem cell:	n/a	chr11:10533211-10533220
5	SIN3A	chr11:10532938-10533225	H1-hESC	embryonic stem cell:	n/a	n/a
6	TCF12	chr11:10532994-10533222	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:10532333..10535020-chr11:10535560..10538529,2	K562	blood:

Variant related genes	Relation type
MTRNR2L8	TF binding region

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1047730	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10500727	0.80[ASW][hapmap]
rs11602469	0.92[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs11604691	0.97[ASN][1000 genomes]
rs11607008	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11826750	1.00[CHB][hapmap];0.88[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.90[ASN][1000 genomes]
rs12275930	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12290357	0.93[CEU][hapmap];0.90[CHB][hapmap];0.84[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12294022	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2054390	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4909938	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4909940	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4909941	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4910150	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4910151	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7123581	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7128848	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7131507	0.85[ASN][1000 genomes]
rs73411920	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7929890	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7936626	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.80[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7938782	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[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	nsv430319	chr11:10027543-10711224	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv972946	chr11:10523147-10534985	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv1044011	chr11:10529353-10564450	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4910149	SNORA45	cis	cerebellum	SCAN

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10501600-10550600	Weak transcription	Small Intestine	intestine
2	chr11:10502600-10560800	Weak transcription	Fetal Brain Male	brain
3	chr11:10507800-10544800	Weak transcription	Fetal Kidney	kidney
4	chr11:10511000-10533200	Strong transcription	Primary T cells fromperipheralblood	blood
5	chr11:10512800-10540400	Weak transcription	Fetal Lung	lung
6	chr11:10512800-10548600	Weak transcription	Right Ventricle	heart
7	chr11:10513200-10538000	Weak transcription	Left Ventricle	heart
8	chr11:10513400-10536000	Weak transcription	A549	lung
9	chr11:10514600-10535600	Weak transcription	HSMM	muscle
10	chr11:10515800-10540600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr11:10516000-10544000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr11:10520000-10543400	Weak transcription	Colon Smooth Muscle	Colon
13	chr11:10522200-10541200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr11:10522400-10535600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr11:10522400-10537800	Weak transcription	Fetal Intestine Large	intestine
16	chr11:10522400-10540600	Weak transcription	Duodenum Mucosa	Duodenum
17	chr11:10522400-10546200	Weak transcription	Rectal Smooth Muscle	rectum
18	chr11:10522400-10560800	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr11:10522800-10540600	Weak transcription	Stomach Smooth Muscle	stomach
20	chr11:10524200-10537800	Weak transcription	Aorta	Aorta
21	chr11:10524600-10536800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr11:10524600-10540600	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr11:10524600-10544800	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr11:10525600-10533200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr11:10525800-10555600	Strong transcription	Primary B cells from peripheral blood	blood
26	chr11:10526200-10535400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr11:10526400-10533200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr11:10526400-10536000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr11:10526400-10536200	Weak transcription	NHDF-Ad	bronchial
30	chr11:10526400-10537800	Weak transcription	Pancreas	Pancrea
31	chr11:10526400-10548800	Weak transcription	Spleen	Spleen
32	chr11:10526400-10549000	Weak transcription	Ovary	ovary
33	chr11:10526400-10551800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr11:10526400-10561600	Weak transcription	Colonic Mucosa	Colon
35	chr11:10526800-10537800	Weak transcription	Fetal Intestine Small	intestine
36	chr11:10526800-10548800	Weak transcription	Psoas Muscle	Psoas
37	chr11:10527000-10534200	Strong transcription	Primary hematopoietic stem cells	blood
38	chr11:10527200-10537800	Weak transcription	Lung	lung
39	chr11:10527200-10540200	Weak transcription	Liver	Liver
40	chr11:10527200-10540200	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr11:10527200-10540600	Weak transcription	Gastric	stomach
42	chr11:10527400-10534600	Strong transcription	Primary B cells from cord blood	blood
43	chr11:10527400-10535600	Weak transcription	NHLF	lung
44	chr11:10527600-10542400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr11:10527800-10535600	Weak transcription	Thymus	Thymus
46	chr11:10527800-10541000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr11:10528000-10540400	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr11:10528000-10540600	Weak transcription	Fetal Muscle Trunk	muscle
49	chr11:10528000-10540600	Weak transcription	Fetal Muscle Leg	muscle
50	chr11:10528000-10542600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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