Variant report

Variant	rs997555
Chromosome Location	chr11:28106058-28106059
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs1032090	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1032091	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs10767697	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10767705	0.91[EUR][1000 genomes]
rs10767710	0.87[EUR][1000 genomes]
rs10835259	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10835275	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10835280	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10835282	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.93[EUR][1000 genomes]
rs10835286	0.93[EUR][1000 genomes]
rs10835294	0.91[EUR][1000 genomes]
rs10835296	0.96[CEU][hapmap];0.84[EUR][1000 genomes]
rs10835298	0.88[EUR][1000 genomes]
rs11030193	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11030197	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11030201	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11030203	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11030204	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11030223	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11030227	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11030228	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11030262	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes]
rs11030267	0.85[EUR][1000 genomes]
rs12294035	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12360577	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12361167	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12806548	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1384904	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1483861	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1564745	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.93[YRI][hapmap];0.87[EUR][1000 genomes]
rs1608871	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17244296	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2046372	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs2128956	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2128958	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2140886	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2140887	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2354426	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.92[EUR][1000 genomes]
rs4923522	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4923525	0.86[EUR][1000 genomes]
rs6484352	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6484357	0.92[EUR][1000 genomes]
rs6484361	0.91[EUR][1000 genomes]
rs6484366	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7105075	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7107992	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.89[EUR][1000 genomes]
rs7108140	0.89[EUR][1000 genomes]
rs7121923	0.88[EUR][1000 genomes]
rs7127104	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[EUR][1000 genomes]
rs7128488	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7129953	0.84[EUR][1000 genomes]
rs7482650	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7924896	0.88[EUR][1000 genomes]
rs7944852	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs960357	0.96[CEU][hapmap];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832096	chr11:28020435-28155586	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
2	nsv553915	chr11:28071479-28138709	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:28034000-28125800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:28058200-28108000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr11:28058800-28108600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr11:28069600-28128400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr11:28071400-28108000	Weak transcription	NHEK	skin
6	chr11:28074400-28106600	Weak transcription	Fetal Stomach	stomach
7	chr11:28075400-28126200	Weak transcription	Fetal Intestine Large	intestine
8	chr11:28075600-28111800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr11:28079600-28106800	Weak transcription	Fetal Muscle Leg	muscle
10	chr11:28080000-28108000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr11:28080200-28121400	Weak transcription	Fetal Intestine Small	intestine
12	chr11:28080400-28127400	Weak transcription	Fetal Lung	lung
13	chr11:28082600-28128400	Weak transcription	Primary B cells from cord blood	blood
14	chr11:28084800-28118400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr11:28085800-28113800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:28090000-28108400	Strong transcription	Dnd41	blood
17	chr11:28094200-28107800	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr11:28094600-28108000	Weak transcription	Osteobl	bone
19	chr11:28094600-28111600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr11:28095000-28113200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
21	chr11:28096000-28112800	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr11:28096800-28107600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr11:28098400-28111600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr11:28098400-28116600	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr11:28098400-28122000	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr11:28098400-28128200	Weak transcription	Fetal Muscle Trunk	muscle
27	chr11:28099400-28128200	Weak transcription	Thymus	Thymus
28	chr11:28100800-28106400	Strong transcription	HSMM	muscle
29	chr11:28100800-28113200	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr11:28101000-28107200	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr11:28101200-28108000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr11:28101400-28107400	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr11:28101800-28106800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
34	chr11:28102000-28107400	Strong transcription	Primary neutrophils fromperipheralblood	blood
35	chr11:28102000-28107400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr11:28102200-28107400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr11:28103200-28108000	Weak transcription	HMEC	breast
38	chr11:28103600-28106200	Weak transcription	Fetal Thymus	thymus
39	chr11:28103600-28106600	Weak transcription	Fetal Brain Female	brain
40	chr11:28103600-28111200	Weak transcription	Duodenum Mucosa	Duodenum
41	chr11:28103800-28119600	Weak transcription	Fetal Heart	heart
42	chr11:28103800-28121800	Weak transcription	HepG2	liver
43	chr11:28103800-28128000	Weak transcription	Primary hematopoietic stem cells	blood
44	chr11:28104000-28107800	Weak transcription	NHLF	lung
45	chr11:28104000-28108000	Weak transcription	NH-A	brain
46	chr11:28104000-28109400	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr11:28104000-28110000	Weak transcription	K562	blood
48	chr11:28104000-28110800	Weak transcription	GM12878-XiMat	blood
49	chr11:28104000-28127200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr11:28104200-28107800	Weak transcription	HUVEC	blood vessel

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