Variant report

Variant	rs73418575
Chromosome Location	chr11:9909714-9909715
allele	C/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:29)

rs_ID	r²[population]
rs11821145	1.00[AMR][1000 genomes]
rs11822070	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11823024	1.00[AMR][1000 genomes]
rs11823620	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11824133	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11824944	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11826573	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55805230	1.00[AMR][1000 genomes]
rs56004091	1.00[AMR][1000 genomes]
rs57233768	1.00[AMR][1000 genomes]
rs57297566	1.00[AMR][1000 genomes]
rs57735272	1.00[AMR][1000 genomes]
rs57948595	1.00[AMR][1000 genomes]
rs58024914	1.00[AMR][1000 genomes]
rs58717942	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58982478	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73402415	1.00[AMR][1000 genomes]
rs73406739	1.00[AMR][1000 genomes]
rs73412193	1.00[AMR][1000 genomes]
rs73412196	1.00[AMR][1000 genomes]
rs73414129	1.00[AMR][1000 genomes]
rs73416199	1.00[AMR][1000 genomes]
rs73418574	1.00[AFR][1000 genomes]
rs73418583	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73418601	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73420636	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73420638	1.00[AMR][1000 genomes]
rs73420639	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73420640	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933855	chr11:9645441-10130519	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS 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 miRNA target site	40 gene(s)	inside rSNPs	diseases
2	esv3384280	chr11:9766350-9911228	Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	esv2762895	chr11:9849511-9954549	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9878400-9916200	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr11:9878800-9952200	Weak transcription	Aorta	Aorta
3	chr11:9880200-9913200	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr11:9880600-9914800	Weak transcription	Placenta	Placenta
5	chr11:9882400-9929600	Weak transcription	Primary T cells from cord blood	blood
6	chr11:9890600-9915200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr11:9891400-9916800	Weak transcription	Primary B cells from cord blood	blood
8	chr11:9891800-9916600	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr11:9892200-9914600	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr11:9892400-9914400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr11:9892400-9914600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr11:9892400-9921200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr11:9894000-9910600	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr11:9894200-9915200	Weak transcription	Fetal Muscle Trunk	muscle
15	chr11:9894400-9916600	Weak transcription	Primary hematopoietic stem cells	blood
16	chr11:9894400-9978600	Weak transcription	Left Ventricle	heart
17	chr11:9897000-9915000	Weak transcription	HSMMtube	muscle
18	chr11:9897800-9910000	Weak transcription	Fetal Kidney	kidney
19	chr11:9898200-9914800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr11:9898200-9917000	Weak transcription	Stomach Smooth Muscle	stomach
21	chr11:9898400-9913800	Weak transcription	Fetal Stomach	stomach
22	chr11:9898600-9914800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr11:9898800-9915200	Weak transcription	Fetal Intestine Small	intestine
24	chr11:9899400-9915000	Weak transcription	Liver	Liver
25	chr11:9900600-9915000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr11:9901200-9915000	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr11:9901200-9916600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr11:9902200-9917400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr11:9902400-9913000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr11:9903400-9915000	Weak transcription	Fetal Muscle Leg	muscle
31	chr11:9903600-9915200	Weak transcription	Ovary	ovary
32	chr11:9903600-9916600	Weak transcription	Fetal Lung	lung
33	chr11:9903800-9914600	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr11:9904000-9937000	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr11:9906000-9915000	Weak transcription	Fetal Intestine Large	intestine
36	chr11:9906400-9912800	Weak transcription	NHLF	lung
37	chr11:9906400-9914800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr11:9906400-9915000	Weak transcription	Osteobl	bone
39	chr11:9906800-9920400	Weak transcription	HUVEC	blood vessel
40	chr11:9907000-9914800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr11:9908000-9910200	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr11:9908000-9910400	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr11:9908200-9909800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr11:9908400-9915000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr11:9908600-9911000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr11:9909200-9910400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr11:9909200-9915000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr11:9909400-9915000	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr11:9909400-9916800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr11:9909600-9912000	Weak transcription	NHDF-Ad	bronchial

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