Variant report

Variant	rs6483263
Chromosome Location	chr11:93441912-93441913
allele	C/T
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:28)

rs_ID	r²[population]
rs10741468	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10765630	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10765632	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10831087	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1939566	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2434983	1.00[EUR][1000 genomes]
rs2508574	1.00[EUR][1000 genomes]
rs4284369	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4595504	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs584474	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs592526	1.00[EUR][1000 genomes]
rs604414	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs607826	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs614003	1.00[EUR][1000 genomes]
rs622231	1.00[EUR][1000 genomes]
rs624883	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6483257	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs653934	1.00[EUR][1000 genomes]
rs655208	1.00[EUR][1000 genomes]
rs657177	1.00[EUR][1000 genomes]
rs666470	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs669937	1.00[EUR][1000 genomes]
rs683660	1.00[EUR][1000 genomes]
rs694307	1.00[EUR][1000 genomes]
rs7123801	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7927030	0.86[AFR][1000 genomes]
rs7939434	1.00[EUR][1000 genomes]
rs7940598	1.00[EUR][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	nsv898181	chr11:93072843-93662459	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv898182	chr11:93381845-93637462	Strong transcription Genic enhancers Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
3	nsv832232	chr11:93401314-93549438	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93395600-93446800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:93398800-93442200	Strong transcription	HUES64 Cell Line	embryonic stem cell
3	chr11:93398800-93443200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
4	chr11:93399800-93442200	Strong transcription	Primary T helper cells fromperipheralblood	blood
5	chr11:93400400-93443200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr11:93400400-93445600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr11:93410000-93444000	Strong transcription	Primary T cells fromperipheralblood	blood
8	chr11:93411600-93442400	Strong transcription	Fetal Intestine Large	intestine
9	chr11:93415800-93442000	Strong transcription	H1 Cell Line	embryonic stem cell
10	chr11:93419800-93442400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr11:93420800-93444000	Strong transcription	Fetal Thymus	thymus
12	chr11:93421600-93442000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr11:93423600-93442000	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr11:93423600-93450200	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr11:93424000-93442600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr11:93426800-93443200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr11:93426800-93444600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr11:93427000-93442600	Strong transcription	Duodenum Mucosa	Duodenum
19	chr11:93427000-93443400	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr11:93427000-93465800	Strong transcription	Hela-S3	cervix
21	chr11:93429200-93442000	Strong transcription	Brain Germinal Matrix	brain
22	chr11:93430800-93465400	Weak transcription	Stomach Mucosa	stomach
23	chr11:93431400-93450400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr11:93431800-93448200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr11:93432200-93448200	Weak transcription	Spleen	Spleen
26	chr11:93432400-93443000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr11:93432400-93448000	Weak transcription	Gastric	stomach
28	chr11:93432600-93442000	Weak transcription	Brain Substantia Nigra	brain
29	chr11:93432600-93448000	Weak transcription	Lung	lung
30	chr11:93432800-93448200	Weak transcription	Right Ventricle	heart
31	chr11:93433800-93442600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr11:93435400-93442000	Strong transcription	Osteobl	bone
33	chr11:93435600-93442000	Strong transcription	HSMM	muscle
34	chr11:93435800-93442400	Strong transcription	Duodenum Smooth Muscle	Duodenum
35	chr11:93435800-93443200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr11:93436000-93454600	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr11:93437200-93448000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr11:93437400-93442400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr11:93437400-93443600	Strong transcription	Fetal Kidney	kidney
40	chr11:93437800-93448000	Weak transcription	Aorta	Aorta
41	chr11:93438000-93448400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr11:93438800-93442000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr11:93438800-93442000	Strong transcription	Fetal Muscle Leg	muscle
44	chr11:93438800-93442000	Strong transcription	Rectal Mucosa Donor 31	rectum
45	chr11:93438800-93442200	Strong transcription	NH-A	brain
46	chr11:93439000-93442200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr11:93439000-93444000	Strong transcription	Muscle Satellite Cultured Cells	--
48	chr11:93439200-93442200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr11:93439200-93442400	Strong transcription	Fetal Lung	lung
50	chr11:93439400-93442600	Strong transcription	Primary neutrophils fromperipheralblood	blood

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