Variant report

Variant	rs73575539
Chromosome Location	chr11:100640182-100640183
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11224332	1.00[AMR][1000 genomes]
rs11224341	1.00[AMR][1000 genomes]
rs11224343	1.00[AMR][1000 genomes]
rs11224346	1.00[AMR][1000 genomes]
rs11224385	1.00[AMR][1000 genomes]
rs11224404	1.00[AFR][1000 genomes]
rs11224418	0.90[AFR][1000 genomes]
rs11224428	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11224429	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11224438	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11224465	1.00[AMR][1000 genomes]
rs11224525	1.00[AMR][1000 genomes]
rs12274762	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12275133	1.00[AMR][1000 genomes]
rs12277269	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12278938	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12279270	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12279931	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12281021	1.00[AMR][1000 genomes]
rs12281097	1.00[AMR][1000 genomes]
rs12284980	1.00[AFR][1000 genomes]
rs12286434	1.00[AMR][1000 genomes]
rs12286625	1.00[AMR][1000 genomes]
rs12287226	1.00[AMR][1000 genomes]
rs12295600	1.00[AMR][1000 genomes]
rs13377291	0.93[AFR][1000 genomes]
rs56805393	1.00[AMR][1000 genomes]
rs61104011	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565305	1.00[AMR][1000 genomes]
rs73565310	1.00[AMR][1000 genomes]
rs73565331	1.00[AMR][1000 genomes]
rs73565337	1.00[AMR][1000 genomes]
rs73565348	1.00[AMR][1000 genomes]
rs73567534	1.00[AMR][1000 genomes]
rs73571424	1.00[AMR][1000 genomes]
rs73573332	1.00[AMR][1000 genomes]
rs73573395	0.97[AFR][1000 genomes]
rs73580523	1.00[AMR][1000 genomes]
rs7933646	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv520995	chr11:100163957-100681211	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv530643	chr11:100196082-100713156	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:100621000-100642400	Weak transcription	Stomach Smooth Muscle	stomach
2	chr11:100624600-100655600	Weak transcription	Left Ventricle	heart
3	chr11:100624600-100655600	Weak transcription	Right Ventricle	heart
4	chr11:100628200-100642800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr11:100629200-100642800	Weak transcription	Liver	Liver
6	chr11:100631800-100645000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr11:100632200-100645200	Weak transcription	Colonic Mucosa	Colon
8	chr11:100632200-100647200	Weak transcription	HSMM	muscle
9	chr11:100632800-100645000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr11:100632800-100645000	Weak transcription	Gastric	stomach
11	chr11:100633000-100641600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr11:100633000-100647000	Weak transcription	NHLF	lung
13	chr11:100633200-100641800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr11:100633200-100641800	Weak transcription	Fetal Muscle Leg	muscle
15	chr11:100633200-100642600	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr11:100633200-100655600	Weak transcription	Psoas Muscle	Psoas
17	chr11:100633600-100647400	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr11:100635200-100647400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr11:100635400-100649400	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr11:100635800-100645600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr11:100636600-100643000	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr11:100637000-100644400	Weak transcription	Duodenum Mucosa	Duodenum
23	chr11:100637400-100640200	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr11:100638400-100641200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr11:100638600-100640200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr11:100638600-100641400	Weak transcription	Placenta	Placenta
27	chr11:100639000-100640800	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr11:100639000-100640800	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr11:100639200-100640800	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr11:100639200-100640800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr11:100639400-100640600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr11:100639600-100640200	Enhancers	H1 Cell Line	embryonic stem cell
33	chr11:100639600-100640200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr11:100639600-100640200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr11:100639600-100640200	Enhancers	Fetal Intestine Small	intestine
36	chr11:100639600-100640200	Enhancers	Fetal Lung	lung
37	chr11:100639600-100640400	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr11:100639600-100640800	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr11:100639600-100640800	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr11:100639600-100640800	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr11:100639600-100641000	Enhancers	Stomach Mucosa	stomach
42	chr11:100639600-100641200	Enhancers	A549	lung
43	chr11:100639800-100640400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr11:100639800-100640600	Enhancers	Fetal Intestine Large	intestine
45	chr11:100639800-100640800	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr11:100639800-100640800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr11:100639800-100640800	Enhancers	Adipose Nuclei	Adipose
48	chr11:100639800-100643800	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr11:100639800-100645600	Weak transcription	Brain Cingulate Gyrus	brain
50	chr11:100639800-100647400	Weak transcription	Fetal Muscle Trunk	muscle

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