Variant report

Variant	rs7949468
Chromosome Location	chr11:77448993-77448994
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1045590	0.80[ASN][1000 genomes]
rs11237265	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11820337	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12225188	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12418335	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1793335	0.81[EUR][1000 genomes]
rs1793340	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2186562	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4145700	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs501153	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs529181	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55190	0.90[ASN][1000 genomes]
rs567814	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs616354	0.84[AFR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs618535	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs634477	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs648842	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs650636	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs665363	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs681411	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs687615	0.88[AFR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7111625	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7118800	0.80[ASN][1000 genomes]
rs7121559	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7924567	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7932547	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7941302	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]

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	nsv1049603	chr11:76900813-77520411	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv541090	chr11:76900813-77520411	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1050891	chr11:77416645-77788002	Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv1037292	chr11:77431583-77745934	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv541092	chr11:77431583-77745934	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:77394600-77458800	Weak transcription	Small Intestine	intestine
2	chr11:77394800-77462600	Weak transcription	Fetal Heart	heart
3	chr11:77409600-77453400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr11:77409600-77458800	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr11:77409600-77478200	Weak transcription	Brain Angular Gyrus	brain
6	chr11:77410400-77477600	Weak transcription	Brain Substantia Nigra	brain
7	chr11:77431600-77482400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr11:77436200-77451400	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr11:77436200-77458600	Weak transcription	HSMMtube	muscle
10	chr11:77436200-77462600	Weak transcription	Rectal Smooth Muscle	rectum
11	chr11:77436200-77463000	Weak transcription	Brain Cingulate Gyrus	brain
12	chr11:77436200-77473400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr11:77436200-77477000	Weak transcription	Colonic Mucosa	Colon
14	chr11:77436600-77450200	Weak transcription	HSMM	muscle
15	chr11:77436600-77473200	Weak transcription	NHDF-Ad	bronchial
16	chr11:77436800-77458600	Weak transcription	NH-A	brain
17	chr11:77441400-77452000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr11:77442000-77453000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr11:77442200-77451800	Weak transcription	Fetal Brain Male	brain
20	chr11:77442400-77450200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr11:77442400-77458200	Weak transcription	Colon Smooth Muscle	Colon
22	chr11:77442400-77458400	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr11:77442400-77458400	Weak transcription	NHEK	skin
24	chr11:77442400-77458600	Weak transcription	Psoas Muscle	Psoas
25	chr11:77442400-77458600	Weak transcription	HMEC	breast
26	chr11:77442400-77463600	Weak transcription	Brain Anterior Caudate	brain
27	chr11:77442400-77472600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr11:77442600-77450200	Weak transcription	HUVEC	blood vessel
29	chr11:77442800-77449400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr11:77442800-77449600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr11:77442800-77452400	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr11:77442800-77474600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr11:77442800-77500200	Weak transcription	Pancreas	Pancrea
34	chr11:77443000-77465800	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr11:77443200-77451000	Weak transcription	Duodenum Mucosa	Duodenum
36	chr11:77443200-77451600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr11:77443200-77451600	Weak transcription	Hela-S3	cervix
38	chr11:77443200-77452400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr11:77443200-77473600	Weak transcription	Fetal Brain Female	brain
40	chr11:77443200-77500200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr11:77443400-77450600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr11:77443400-77452400	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr11:77443400-77458400	Weak transcription	A549	lung
44	chr11:77443400-77464400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr11:77443600-77449200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
46	chr11:77443600-77449400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr11:77443800-77454400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr11:77443800-77465800	Weak transcription	Brain Germinal Matrix	brain
49	chr11:77444200-77455600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr11:77444400-77449000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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