Variant report

Variant	rs11681535
Chromosome Location	chr2:98488949-98488950
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs10432626	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11678591	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11679828	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11680018	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11680321	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11680883	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11684749	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11688829	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11690687	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11690737	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11691494	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11692010	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11692470	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12052222	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12052836	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12052846	0.80[AFR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12104810	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12988571	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12995673	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13004090	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13006932	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13008968	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13020776	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13023980	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13028954	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13032265	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13032883	0.85[EUR][1000 genomes]
rs13034929	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1470483	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17488897	0.88[EUR][1000 genomes]
rs17489454	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17489915	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17489984	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17490429	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1838797	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1875699	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2044458	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2044459	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2084176	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2278700	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2305143	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2871183	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3198055	0.82[EUR][1000 genomes]
rs34149969	0.82[EUR][1000 genomes]
rs34373359	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34502870	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34503448	0.84[EUR][1000 genomes]
rs34528940	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34654057	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34974566	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35098301	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35218942	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35255677	0.85[EUR][1000 genomes]
rs35424768	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35505530	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35564270	0.83[EUR][1000 genomes]
rs35783535	0.85[EUR][1000 genomes]
rs4311104	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55776387	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55886305	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57681139	0.83[AFR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58546246	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62156511	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6710088	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6711101	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6738389	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6746768	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6748124	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6757357	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71412824	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs71429376	0.84[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs717417	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7421146	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7564773	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7583868	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7601898	0.80[AFR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs895438	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs953320	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526360	chr2:98403683-98814054	Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv521568	chr2:98403683-98826203	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1004220	chr2:98423421-98816010	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1007259	chr2:98429744-98818080	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv535832	chr2:98429744-98818080	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv1009218	chr2:98442640-98816010	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1003925	chr2:98442640-98821102	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv999442	chr2:98448732-98816010	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv1013902	chr2:98454309-98818080	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv1013416	chr2:98472701-98688729	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98447800-98502800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:98478600-98502200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr2:98478600-98502800	Weak transcription	Colonic Mucosa	Colon
4	chr2:98478600-98502800	Weak transcription	Pancreas	Pancrea
5	chr2:98478800-98489800	Weak transcription	Fetal Muscle Trunk	muscle
6	chr2:98484000-98489200	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr2:98486000-98489200	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr2:98486000-98489200	Enhancers	Colon Smooth Muscle	Colon
9	chr2:98486200-98489400	Weak transcription	Lung	lung
10	chr2:98486200-98490000	Weak transcription	Gastric	stomach
11	chr2:98486400-98489000	Enhancers	Primary B cells from peripheral blood	blood
12	chr2:98486400-98489200	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr2:98486400-98496800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr2:98486600-98489000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr2:98486600-98489000	Enhancers	HSMMtube	muscle
16	chr2:98486600-98490000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr2:98486600-98490200	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr2:98486800-98489000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
19	chr2:98486800-98489000	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr2:98486800-98489200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr2:98486800-98489600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr2:98486800-98490400	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr2:98487000-98489200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr2:98487200-98489000	Weak transcription	Right Ventricle	heart
25	chr2:98487200-98489800	Weak transcription	Fetal Muscle Leg	muscle
26	chr2:98487200-98502800	Weak transcription	Aorta	Aorta
27	chr2:98487400-98490400	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr2:98487400-98502400	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr2:98487400-98502600	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr2:98487600-98489200	Enhancers	Psoas Muscle	Psoas
31	chr2:98487600-98490200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr2:98487600-98501000	Weak transcription	Brain Hippocampus Middle	brain
33	chr2:98487800-98489000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
34	chr2:98487800-98489600	Enhancers	Spleen	Spleen
35	chr2:98487800-98489800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr2:98487800-98490400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr2:98487800-98495400	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr2:98487800-98496800	Weak transcription	Fetal Thymus	thymus
39	chr2:98487800-98501000	Weak transcription	Primary B cells from cord blood	blood
40	chr2:98488000-98489600	ZNF genes & repeats	Fetal Intestine Large	intestine
41	chr2:98488000-98490200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
42	chr2:98488000-98490200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr2:98488000-98490600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr2:98488000-98493800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr2:98488000-98495800	Weak transcription	Primary T cells from cord blood	blood
46	chr2:98488200-98489000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr2:98488200-98489000	Weak transcription	Right Atrium	heart
48	chr2:98488200-98489200	Weak transcription	Small Intestine	intestine
49	chr2:98488200-98489200	ZNF genes & repeats	HMEC	breast
50	chr2:98488200-98496000	Weak transcription	Thymus	Thymus

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