Variant report

Variant	rs10830994
Chromosome Location	chr11:92891349-92891350
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1062050	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10765588	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10765592	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10765594	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10830991	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10831003	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10831005	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11020179	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11020181	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11020182	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1158347	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12574282	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12576495	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1508607	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2399640	0.84[AMR][1000 genomes]
rs4267030	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61920510	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61920515	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7110187	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7112173	0.85[AMR][1000 genomes]
rs7114913	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7939448	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7940438	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7941228	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039134	chr11:92790000-93219942	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv898176	chr11:92877533-92965312	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv898177	chr11:92877533-92971874	Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv898178	chr11:92881933-92949447	Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv898179	chr11:92881933-92956873	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv1047828	chr11:92886648-92915055	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv1045544	chr11:92889187-92915055	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:92867200-92896400	Weak transcription	Primary B cells from peripheral blood	blood
2	chr11:92868400-92914600	Weak transcription	Brain Substantia Nigra	brain
3	chr11:92875000-92892800	Weak transcription	Primary B cells from cord blood	blood
4	chr11:92875400-92910400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr11:92876400-92896600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr11:92876600-92900400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr11:92876600-92910600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr11:92876800-92910600	Weak transcription	Lung	lung
9	chr11:92877000-92911400	Weak transcription	Osteobl	bone
10	chr11:92877200-92894800	Weak transcription	HSMM	muscle
11	chr11:92877800-92899600	Weak transcription	NHLF	lung
12	chr11:92877800-92915000	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr11:92878000-92894600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr11:92878400-92910600	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr11:92878800-92893200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr11:92878800-92895800	Weak transcription	Brain Germinal Matrix	brain
17	chr11:92878800-92896000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr11:92879000-92896600	Weak transcription	Ovary	ovary
19	chr11:92879000-92900200	Weak transcription	Fetal Muscle Leg	muscle
20	chr11:92879000-92910800	Weak transcription	HSMMtube	muscle
21	chr11:92879200-92892600	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr11:92879200-92896600	Weak transcription	Fetal Brain Female	brain
23	chr11:92879600-92910000	Weak transcription	Fetal Brain Male	brain
24	chr11:92879600-92910800	Weak transcription	HMEC	breast
25	chr11:92880200-92894600	Weak transcription	Placenta	Placenta
26	chr11:92880400-92895800	Weak transcription	Brain Angular Gyrus	brain
27	chr11:92881200-92894000	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr11:92881200-92894800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr11:92881200-92899200	Weak transcription	NH-A	brain
30	chr11:92881800-92895200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr11:92882000-92910600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr11:92884400-92894200	Weak transcription	Hela-S3	cervix
33	chr11:92884600-92897000	Weak transcription	Brain Hippocampus Middle	brain
34	chr11:92885000-92896400	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr11:92885000-92897200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr11:92885200-92896600	Weak transcription	HUVEC	blood vessel
37	chr11:92885600-92896400	Weak transcription	Liver	Liver
38	chr11:92885800-92910000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr11:92886000-92892800	Weak transcription	Primary T cells from cord blood	blood
40	chr11:92886000-92896400	Weak transcription	Rectal Smooth Muscle	rectum
41	chr11:92886400-92893000	Weak transcription	Primary hematopoietic stem cells	blood
42	chr11:92888000-92900000	Weak transcription	Fetal Kidney	kidney
43	chr11:92888400-92900600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr11:92888800-92891800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr11:92889000-92895800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr11:92889000-92896600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr11:92889000-92899800	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr11:92889000-92900200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr11:92889200-92892600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr11:92889400-92896600	Weak transcription	Stomach Smooth Muscle	stomach

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