Variant report

Variant	rs12274762
Chromosome Location	chr11:100641254-100641255
allele	C/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[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11224465	1.00[AMR][1000 genomes]
rs11224525	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	1.00[ASW][hapmap];0.92[YRI][hapmap];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]
rs73575539	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73580523	1.00[AMR][1000 genomes]
rs7933646	1.00[ASW][hapmap];1.00[YRI][hapmap];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:66 , 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	chr11:100638600-100641400	Weak transcription	Placenta	Placenta
24	chr11:100639800-100643800	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr11:100639800-100645600	Weak transcription	Brain Cingulate Gyrus	brain
26	chr11:100639800-100647400	Weak transcription	Fetal Muscle Trunk	muscle
27	chr11:100640000-100648600	Weak transcription	Small Intestine	intestine
28	chr11:100640000-100649600	Weak transcription	Fetal Kidney	kidney
29	chr11:100640000-100655600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr11:100640200-100642400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr11:100640200-100642800	Weak transcription	Fetal Intestine Small	intestine
32	chr11:100640200-100644200	Weak transcription	Fetal Heart	heart
33	chr11:100640200-100644400	Weak transcription	Fetal Lung	lung
34	chr11:100640200-100644800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr11:100640200-100645000	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr11:100640200-100645000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr11:100640200-100645000	Weak transcription	Fetal Stomach	stomach
38	chr11:100640200-100647000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr11:100640200-100647200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr11:100640200-100648600	Weak transcription	Primary B cells from peripheral blood	blood
41	chr11:100640200-100651000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr11:100640400-100642800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr11:100640400-100642800	Weak transcription	HSMMtube	muscle
44	chr11:100640400-100645200	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr11:100640400-100646600	Weak transcription	Dnd41	blood
46	chr11:100640400-100647000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr11:100640400-100648800	Weak transcription	Osteobl	bone
48	chr11:100640400-100651000	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr11:100640600-100642800	Weak transcription	Fetal Intestine Large	intestine
50	chr11:100640800-100641800	Weak transcription	HUES64 Cell Line	embryonic stem cell

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