Variant report

Variant	rs11229090
Chromosome Location	chr11:57438461-57438462
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	USF1	chr11:57438449-57438706	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:57436045..57439920-chr11:57463580..57467800,3	K562	blood:
2	chr11:57281647..57284609-chr11:57436197..57438569,2	K562	blood:
3	chr11:57435166..57438481-chr11:57528814..57531638,3	K562	blood:
4	chr11:57437681..57440408-chr11:57478752..57481185,2	K562	blood:
5	chr11:57433884..57439071-chr11:57477629..57483930,15	K562	blood:

No data

Variant related genes	Relation type
ZDHHC5	TF binding region
ENSG00000198561	Chromatin interaction
ENSG00000149150	Chromatin interaction
ENSG00000156603	Chromatin interaction
ENSG00000213593	Chromatin interaction
ENSG00000254462	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10896635	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12279926	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17152018	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv530621	chr11:57139699-57703639	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
4	nsv832163	chr11:57299354-57481050	Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
5	nsv1040913	chr11:57315006-57696122	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
6	nsv832164	chr11:57407617-57578825	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
7	nsv508633	chr11:57419585-57560045	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57436400-57439800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:57436400-57439800	Weak transcription	Gastric	stomach
3	chr11:57436400-57439800	Weak transcription	Ovary	ovary
4	chr11:57436400-57439800	Weak transcription	Spleen	Spleen
5	chr11:57436400-57440200	Weak transcription	Pancreas	Pancrea
6	chr11:57436400-57440400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:57436600-57438600	Enhancers	Primary B cells from peripheral blood	blood
8	chr11:57436600-57439200	Weak transcription	Aorta	Aorta
9	chr11:57436600-57439800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr11:57436600-57440400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr11:57436600-57479000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr11:57436800-57438800	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr11:57436800-57438800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr11:57436800-57438800	Enhancers	Left Ventricle	heart
15	chr11:57436800-57439000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr11:57436800-57439800	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr11:57436800-57441800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr11:57437000-57438600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr11:57437000-57438800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr11:57437000-57439000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr11:57437000-57439200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr11:57437000-57439200	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr11:57437000-57439200	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr11:57437000-57439200	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr11:57437000-57439200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
26	chr11:57437000-57439200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr11:57437000-57439400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr11:57437000-57439400	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr11:57437000-57439400	Weak transcription	Brain Substantia Nigra	brain
30	chr11:57437000-57439400	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr11:57437000-57439600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr11:57437000-57439800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr11:57437000-57439800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr11:57437000-57440200	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr11:57437000-57440400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr11:57437200-57438600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr11:57437200-57438600	Weak transcription	Fetal Brain Female	brain
38	chr11:57437200-57438800	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr11:57437200-57439000	Weak transcription	Rectal Smooth Muscle	rectum
40	chr11:57437200-57439200	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr11:57437200-57439200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr11:57437200-57439200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr11:57437200-57439200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr11:57437200-57439200	Weak transcription	Fetal Kidney	kidney
45	chr11:57437200-57439200	Weak transcription	HSMMtube	muscle
46	chr11:57437200-57439400	Weak transcription	Placenta	Placenta
47	chr11:57437200-57439600	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr11:57437200-57439600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr11:57437200-57439600	Weak transcription	Brain Hippocampus Middle	brain
50	chr11:57437200-57439600	Weak transcription	Colonic Mucosa	Colon

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