Variant report

Variant	rs11913747
Chromosome Location	chr22:29281717-29281718
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:29280249..29282213-chr22:29433685..29436671,2	MCF-7	breast:
2	chr22:29280662..29283145-chr22:29436035..29437760,2	K562	blood:
3	chr22:29279568..29281765-chr22:29467462..29470387,2	K562	blood:
4	chr22:29280624..29284164-chr22:29307760..29311501,3	MCF-7	breast:
5	chr22:29194507..29196726-chr22:29278986..29282462,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100219	Chromatin interaction
ENSG00000183762	Chromatin interaction
ENSG00000226471	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10222265	1.00[AMR][1000 genomes]
rs12166716	1.00[AMR][1000 genomes]
rs16986649	1.00[AMR][1000 genomes]
rs16987011	1.00[AMR][1000 genomes]
rs16987087	1.00[AMR][1000 genomes]
rs17882700	1.00[AMR][1000 genomes]
rs6005989	1.00[AMR][1000 genomes]
rs60116790	1.00[AMR][1000 genomes]
rs61339566	1.00[AMR][1000 genomes]
rs73388803	1.00[AMR][1000 genomes]
rs9620826	1.00[AMR][1000 genomes]
rs9620828	1.00[AMR][1000 genomes]
rs9620833	1.00[AMR][1000 genomes]
rs9625548	1.00[AMR][1000 genomes]
rs9625554	1.00[AMR][1000 genomes]
rs9625568	1.00[AMR][1000 genomes]
rs9625572	1.00[AMR][1000 genomes]
rs9625602	1.00[AMR][1000 genomes]
rs9625603	1.00[AMR][1000 genomes]
rs9625701	1.00[AMR][1000 genomes]
rs9625702	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064079	chr22:29065528-29456059	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
2	nsv834169	chr22:29095446-29303929	Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	nsv3589	chr22:29265164-29288935	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 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	chr22:29278600-29282600	Active TSS	Brain Anterior Caudate	brain
2	chr22:29278800-29281800	Active TSS	Fetal Kidney	kidney
3	chr22:29279000-29282000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr22:29280200-29282200	Bivalent/Poised TSS	HepG2	liver
5	chr22:29280400-29282000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr22:29280400-29282200	Flanking Active TSS	Liver	Liver
7	chr22:29280400-29282200	Flanking Active TSS	HMEC	breast
8	chr22:29280600-29281800	Flanking Active TSS	Fetal Lung	lung
9	chr22:29280600-29281800	Flanking Active TSS	NHEK	skin
10	chr22:29280600-29282000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr22:29280600-29283600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr22:29280800-29281800	Flanking Active TSS	Fetal Intestine Large	intestine
13	chr22:29280800-29282200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr22:29281000-29282000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr22:29281000-29282400	Active TSS	Rectal Mucosa Donor 29	rectum
16	chr22:29281000-29287600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr22:29281200-29282000	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr22:29281200-29282200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
19	chr22:29281200-29282200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr22:29281200-29282200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr22:29281200-29282200	Enhancers	Esophagus	oesophagus
22	chr22:29281200-29282200	Enhancers	Fetal Heart	heart
23	chr22:29281200-29282200	Enhancers	Right Ventricle	heart
24	chr22:29281200-29282400	Enhancers	NH-A	brain
25	chr22:29281200-29282600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr22:29281200-29283000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr22:29281200-29287400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr22:29281200-29288000	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr22:29281400-29281800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr22:29281400-29281800	Active TSS	Fetal Brain Female	brain
31	chr22:29281400-29281800	Active TSS	Placenta	Placenta
32	chr22:29281400-29282000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr22:29281400-29282000	Enhancers	Fetal Brain Male	brain
34	chr22:29281400-29282000	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr22:29281400-29282000	Weak transcription	Gastric	stomach
36	chr22:29281400-29282200	Enhancers	H9 Cell Line	embryonic stem cell
37	chr22:29281400-29282200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr22:29281400-29282200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr22:29281400-29282200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr22:29281400-29282200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr22:29281400-29282200	Enhancers	Adipose Nuclei	Adipose
42	chr22:29281400-29282200	Enhancers	Brain Substantia Nigra	brain
43	chr22:29281400-29282200	Enhancers	Rectal Smooth Muscle	rectum
44	chr22:29281400-29282200	Weak transcription	Right Atrium	heart
45	chr22:29281400-29282200	Enhancers	NHLF	lung
46	chr22:29281400-29282400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr22:29281400-29282400	Active TSS	Brain Inferior Temporal Lobe	brain
48	chr22:29281400-29282400	Enhancers	Duodenum Smooth Muscle	Duodenum
49	chr22:29281400-29282400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr22:29281400-29282400	Enhancers	A549	lung

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