Variant report

Variant	rs11229866
Chromosome Location	chr11:58948525-58948526
allele	C/T
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	POLR2A	chr11:58947685-58950571	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:58939130..58941669-chr11:58947220..58948928,2	K562	blood:
2	chr11:58948500..58950456-chr11:59382948..59385092,2	K562	blood:
3	chr11:58939445..58943273-chr11:58944616..58948860,5	MCF-7	breast:

Variant related genes	Relation type
DTX4	TF binding region
ENSG00000255139	Chromatin interaction
ENSG00000110042	Chromatin interaction
ENSG00000110048	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs10896954	0.81[AFR][1000 genomes]
rs11229876	0.87[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050013	chr11:58394598-59221090	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv948365	chr11:58515163-59156405	Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	esv2758272	chr11:58700092-59008673	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv2759830	chr11:58700092-59008673	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
5	esv1821250	chr11:58925860-59059179	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:58941200-58949200	Weak transcription	Aorta	Aorta
2	chr11:58941200-58949400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr11:58941600-58964000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:58942000-58950000	Enhancers	Brain Substantia Nigra	brain
5	chr11:58942200-58949400	Weak transcription	NHLF	lung
6	chr11:58942200-58951600	Weak transcription	Colon Smooth Muscle	Colon
7	chr11:58942400-58951000	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr11:58942600-58949000	Weak transcription	Spleen	Spleen
9	chr11:58942600-58951000	Weak transcription	Esophagus	oesophagus
10	chr11:58942800-58949200	Weak transcription	Brain Germinal Matrix	brain
11	chr11:58943200-58949000	Weak transcription	Gastric	stomach
12	chr11:58943200-58949200	Weak transcription	Brain Angular Gyrus	brain
13	chr11:58943400-58949000	Weak transcription	HSMM	muscle
14	chr11:58943400-58949400	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr11:58943400-58950200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr11:58943400-58952600	Weak transcription	Rectal Smooth Muscle	rectum
17	chr11:58943400-58954800	Weak transcription	Hela-S3	cervix
18	chr11:58943600-58949200	Weak transcription	Colonic Mucosa	Colon
19	chr11:58943600-58975400	Weak transcription	NHEK	skin
20	chr11:58943800-58949200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr11:58943800-58950200	Strong transcription	Fetal Stomach	stomach
22	chr11:58944000-58950000	Weak transcription	Stomach Smooth Muscle	stomach
23	chr11:58944200-58949800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr11:58944200-58950000	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr11:58944200-58950200	Weak transcription	Small Intestine	intestine
26	chr11:58944800-58949000	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr11:58944800-58949000	Weak transcription	Adipose Nuclei	Adipose
28	chr11:58944800-58949200	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr11:58944800-58949600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr11:58944800-58950400	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr11:58945200-58949200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr11:58945400-58949200	Weak transcription	Ovary	ovary
33	chr11:58946000-58950000	Weak transcription	Fetal Kidney	kidney
34	chr11:58946200-58948800	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr11:58946200-58949000	Weak transcription	Fetal Muscle Leg	muscle
36	chr11:58946200-58949200	Weak transcription	Fetal Muscle Trunk	muscle
37	chr11:58946200-58949400	Weak transcription	Pancreas	Pancrea
38	chr11:58946400-58948600	Weak transcription	Liver	Liver
39	chr11:58946400-58948600	Weak transcription	Fetal Lung	lung
40	chr11:58946400-58949200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr11:58946400-58951400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr11:58946600-58949400	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr11:58946800-58948600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr11:58946800-58949000	Weak transcription	HSMMtube	muscle
45	chr11:58947000-58949000	Weak transcription	Duodenum Mucosa	Duodenum
46	chr11:58947000-58949200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr11:58947200-58949000	Weak transcription	Placenta	Placenta
48	chr11:58947200-58950000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr11:58947200-58950200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr11:58947200-58952800	Weak transcription	HUES64 Cell Line	embryonic stem cell

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