Variant report

Variant	rs1947928
Chromosome Location	chr11:108571410-108571411
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10732846	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs12787498	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12788182	0.80[CEU][hapmap];0.95[TSI][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12799569	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12807367	1.00[CEU][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1466502	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1469274	1.00[ASW][hapmap];0.95[GIH][hapmap];0.95[LWK][hapmap];0.92[MKK][hapmap];0.88[YRI][hapmap]
rs1531470	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1947929	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2061680	1.00[CEU][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2126570	1.00[CEU][hapmap];0.92[YRI][hapmap];0.80[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2553769	1.00[ASW][hapmap];0.95[GIH][hapmap];0.92[LWK][hapmap];0.91[MKK][hapmap];0.88[YRI][hapmap]
rs2615721	1.00[CEU][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2615734	0.82[EUR][1000 genomes]
rs2615735	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2615738	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2615742	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2726876	1.00[CEU][hapmap];0.92[YRI][hapmap];0.82[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2726880	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2726887	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2726891	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2726905	0.88[YRI][hapmap]
rs2726924	1.00[ASW][hapmap];0.95[GIH][hapmap];0.95[LWK][hapmap];0.91[MKK][hapmap];0.96[YRI][hapmap]
rs34746018	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35234597	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35396330	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3951111	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4754342	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6589029	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7124142	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7129535	1.00[CEU][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7130825	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71489910	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71489912	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71489921	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71489923	0.85[EUR][1000 genomes]
rs73005544	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7931638	1.00[CEU][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs898973	0.81[YRI][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	nsv1052254	chr11:108122683-108845008	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv541164	chr11:108122683-108845008	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv898386	chr11:108409442-108831875	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv898388	chr11:108440814-108724639	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv832264	chr11:108449613-108623720	ZNF genes & repeats Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:108536600-108578400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:108538200-108574800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr11:108541400-108578200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:108543600-108575200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr11:108548200-108577600	Weak transcription	Colonic Mucosa	Colon
6	chr11:108548400-108577200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr11:108548600-108577400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr11:108548800-108577400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr11:108549200-108577400	Weak transcription	Right Ventricle	heart
10	chr11:108554400-108577800	Weak transcription	Psoas Muscle	Psoas
11	chr11:108558000-108578600	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr11:108560600-108574600	Weak transcription	Fetal Brain Female	brain
13	chr11:108560600-108577800	Weak transcription	Colon Smooth Muscle	Colon
14	chr11:108561400-108571800	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr11:108561600-108571800	Weak transcription	A549	lung
16	chr11:108561600-108575200	Weak transcription	Brain Hippocampus Middle	brain
17	chr11:108561600-108577400	Weak transcription	Brain Cingulate Gyrus	brain
18	chr11:108561600-108578400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr11:108561800-108577600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr11:108561800-108577600	Weak transcription	Brain Angular Gyrus	brain
21	chr11:108561800-108577800	Weak transcription	Brain Substantia Nigra	brain
22	chr11:108561800-108577800	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr11:108561800-108579200	Weak transcription	Fetal Intestine Small	intestine
24	chr11:108561800-108579200	Weak transcription	Rectal Smooth Muscle	rectum
25	chr11:108561800-108581400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr11:108561800-108581400	Weak transcription	Gastric	stomach
27	chr11:108561800-108581400	Weak transcription	Thymus	Thymus
28	chr11:108561800-108581600	Weak transcription	Spleen	Spleen
29	chr11:108562000-108577400	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr11:108563000-108581400	Weak transcription	Pancreas	Pancrea
31	chr11:108563600-108577600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr11:108564400-108577400	Weak transcription	Small Intestine	intestine
33	chr11:108564800-108574600	Weak transcription	Fetal Lung	lung
34	chr11:108564800-108575000	Weak transcription	Aorta	Aorta
35	chr11:108564800-108575000	Weak transcription	Brain Anterior Caudate	brain
36	chr11:108564800-108576000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr11:108564800-108577200	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr11:108564800-108577600	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr11:108564800-108577600	Weak transcription	Placenta	Placenta
40	chr11:108564800-108577600	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr11:108564800-108581400	Weak transcription	Fetal Brain Male	brain
42	chr11:108564800-108595400	Weak transcription	Hela-S3	cervix
43	chr11:108565200-108572400	Weak transcription	Fetal Thymus	thymus
44	chr11:108565200-108576600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr11:108565200-108577400	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr11:108565200-108577600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr11:108565200-108577600	Weak transcription	HSMMtube	muscle
48	chr11:108565200-108577800	Weak transcription	NHLF	lung
49	chr11:108565400-108576000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr11:108565600-108579200	Weak transcription	Lung	lung

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