Variant report

Variant	rs56294473
Chromosome Location	chr11:9201099-9201100
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10454487	1.00[ASN][1000 genomes]
rs10840186	0.97[AFR][1000 genomes]
rs10840188	1.00[ASN][1000 genomes]
rs10840189	1.00[ASN][1000 genomes]
rs11042215	1.00[ASN][1000 genomes]
rs11042217	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11042220	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11042224	1.00[ASN][1000 genomes]
rs11042228	1.00[ASN][1000 genomes]
rs11042230	1.00[ASN][1000 genomes]
rs11042231	1.00[ASN][1000 genomes]
rs11042232	1.00[ASN][1000 genomes]
rs11042233	1.00[ASN][1000 genomes]
rs11042240	1.00[ASN][1000 genomes]
rs11042241	1.00[ASN][1000 genomes]
rs11042242	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11042246	1.00[ASN][1000 genomes]
rs11042253	1.00[ASN][1000 genomes]
rs11607384	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11827186	0.91[AFR][1000 genomes]
rs12286621	1.00[ASN][1000 genomes]
rs12360767	1.00[ASN][1000 genomes]
rs12363839	1.00[ASN][1000 genomes]
rs12807631	0.84[EUR][1000 genomes]
rs17257379	1.00[ASN][1000 genomes]
rs2014868	0.89[EUR][1000 genomes]
rs2133215	1.00[ASN][1000 genomes]
rs55962227	1.00[ASN][1000 genomes]
rs60693427	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6486204	1.00[ASN][1000 genomes]
rs6486209	1.00[ASN][1000 genomes]
rs66554737	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67890540	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7121753	1.00[ASN][1000 genomes]
rs7129049	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7130400	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72859608	0.94[AFR][1000 genomes]
rs72859676	1.00[ASN][1000 genomes]
rs72859678	1.00[ASN][1000 genomes]
rs72859693	1.00[ASN][1000 genomes]
rs7394454	1.00[ASN][1000 genomes]
rs7394869	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7395631	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7926864	0.90[EUR][1000 genomes]
rs7929621	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7936622	1.00[ASN][1000 genomes]
rs7938562	1.00[ASN][1000 genomes]
rs7940872	1.00[ASN][1000 genomes]
rs7945570	1.00[ASN][1000 genomes]
rs7949349	1.00[ASN][1000 genomes]
rs9645644	1.00[ASN][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	esv3413845	chr11:8887279-9285127	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	esv33264	chr11:9007612-9311131	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1040049	chr11:9152536-9363488	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv916534	chr11:9188436-9516241	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9155000-9203400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:9161200-9202400	Weak transcription	Small Intestine	intestine
3	chr11:9162000-9230600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr11:9169600-9238000	Weak transcription	Esophagus	oesophagus
5	chr11:9171800-9230200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr11:9172000-9230400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr11:9174000-9225800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr11:9182400-9225000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr11:9182400-9231800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr11:9184200-9208200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr11:9184200-9216800	Strong transcription	Primary neutrophils fromperipheralblood	blood
12	chr11:9186800-9215800	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr11:9187600-9201800	Weak transcription	Pancreas	Pancrea
14	chr11:9193800-9202600	Weak transcription	Fetal Heart	heart
15	chr11:9194000-9203400	Strong transcription	Primary T helper cells PMA-I stimulated	--
16	chr11:9196200-9203800	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr11:9196400-9203200	Strong transcription	NHLF	lung
18	chr11:9196400-9204000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr11:9196600-9203000	Strong transcription	HSMM	muscle
20	chr11:9196800-9208200	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr11:9197000-9202800	Strong transcription	Fetal Kidney	kidney
22	chr11:9197000-9203000	Strong transcription	Primary B cells from cord blood	blood
23	chr11:9197000-9203000	Strong transcription	NH-A	brain
24	chr11:9197000-9203200	Strong transcription	HUES48 Cell Line	embryonic stem cell
25	chr11:9197000-9203200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
26	chr11:9197000-9203800	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr11:9197000-9205400	Strong transcription	Primary hematopoietic stem cells	blood
28	chr11:9197000-9210600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr11:9197200-9202800	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr11:9197200-9202800	Strong transcription	Liver	Liver
31	chr11:9197200-9203600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
32	chr11:9197400-9203000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr11:9197400-9203400	Strong transcription	Primary T cells from cord blood	blood
34	chr11:9197600-9202200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr11:9197600-9202200	Strong transcription	Adipose Nuclei	Adipose
36	chr11:9197600-9202400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr11:9197600-9202400	Strong transcription	Fetal Thymus	thymus
38	chr11:9197600-9202400	Strong transcription	Left Ventricle	heart
39	chr11:9197600-9202400	Strong transcription	Skeletal Muscle Male	skeletal muscle
40	chr11:9197600-9202600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr11:9197600-9202600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr11:9197600-9203000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr11:9197600-9203000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr11:9197600-9203000	Strong transcription	Skeletal Muscle Female	skeletal muscle
45	chr11:9197600-9203200	Strong transcription	Fetal Muscle Leg	muscle
46	chr11:9197600-9203200	Strong transcription	HepG2	liver
47	chr11:9197600-9205600	Strong transcription	Fetal Muscle Trunk	muscle
48	chr11:9197800-9202200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr11:9197800-9202400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr11:9197800-9203400	Strong transcription	Brain Germinal Matrix	brain

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