Variant report

Variant	rs11020399
Chromosome Location	chr11:93256629-93256630
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr11:93256623-93257501	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
SMCO4	TF binding region

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10831050	0.82[ASN][1000 genomes]
rs11020369	1.00[AMR][1000 genomes]
rs11020372	1.00[AMR][1000 genomes]
rs11020375	1.00[AMR][1000 genomes]
rs11020376	1.00[AMR][1000 genomes]
rs11020380	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11020381	0.82[ASN][1000 genomes]
rs11020385	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11020386	1.00[AMR][1000 genomes]
rs11020391	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11020397	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11020398	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11020400	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11020401	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11020402	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs3750951	1.00[AMR][1000 genomes];1.00[ASN][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	nsv1039623	chr11:93141461-93328739	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	esv2760208	chr11:93172673-93266594	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93226400-93257400	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr11:93227200-93257600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr11:93233000-93257400	Weak transcription	Stomach Smooth Muscle	stomach
4	chr11:93235400-93257800	Weak transcription	Gastric	stomach
5	chr11:93235600-93258800	Weak transcription	Small Intestine	intestine
6	chr11:93238400-93259000	Weak transcription	Fetal Lung	lung
7	chr11:93241800-93257400	Weak transcription	Fetal Intestine Large	intestine
8	chr11:93248000-93261800	Weak transcription	Fetal Stomach	stomach
9	chr11:93248800-93257400	Weak transcription	Adipose Nuclei	Adipose
10	chr11:93249000-93261600	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr11:93249200-93257600	Weak transcription	Fetal Muscle Leg	muscle
12	chr11:93249200-93257600	Weak transcription	Placenta	Placenta
13	chr11:93249200-93257800	Weak transcription	Right Atrium	heart
14	chr11:93251000-93258200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr11:93251000-93261400	Weak transcription	Fetal Brain Male	brain
16	chr11:93251000-93261600	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr11:93251000-93261600	Weak transcription	Aorta	Aorta
18	chr11:93252000-93257000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr11:93252000-93266800	Enhancers	Fetal Thymus	thymus
20	chr11:93252200-93257000	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr11:93252200-93259000	Enhancers	Liver	Liver
22	chr11:93252200-93260800	Enhancers	Dnd41	blood
23	chr11:93252400-93257000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr11:93252600-93259800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr11:93253000-93257200	Weak transcription	HSMMtube	muscle
26	chr11:93253000-93258800	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr11:93253400-93257600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr11:93253400-93257600	Weak transcription	Stomach Mucosa	stomach
29	chr11:93253600-93256800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr11:93253800-93266200	Weak transcription	Fetal Brain Female	brain
31	chr11:93254200-93257000	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr11:93254800-93256800	Weak transcription	Osteobl	bone
33	chr11:93254800-93258000	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr11:93254800-93258200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr11:93255000-93257000	Weak transcription	Thymus	Thymus
36	chr11:93255000-93257400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr11:93255000-93258200	Weak transcription	Primary T cells from cord blood	blood
38	chr11:93255000-93259200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr11:93255000-93263600	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr11:93255000-93274600	Weak transcription	Hela-S3	cervix
41	chr11:93255200-93257200	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr11:93255200-93257800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr11:93255600-93256800	Strong transcription	Fetal Intestine Small	intestine
44	chr11:93255600-93257000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr11:93255600-93257400	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr11:93255600-93257600	Weak transcription	HepG2	liver
47	chr11:93255600-93262200	Weak transcription	Brain Germinal Matrix	brain
48	chr11:93255800-93258200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr11:93255800-93261600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr11:93255800-93262000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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