Variant report

Variant	rs73401086
Chromosome Location	chr22:29657227-29657228
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:29654217..29657445-chr22:29658284..29661902,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100263	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs2231397	1.00[AMR][1000 genomes]
rs56678071	1.00[AMR][1000 genomes]
rs58075735	1.00[AMR][1000 genomes]
rs58668414	1.00[AMR][1000 genomes]
rs58938110	1.00[AMR][1000 genomes]
rs60483568	1.00[AMR][1000 genomes]
rs60619083	1.00[AMR][1000 genomes]
rs60770384	1.00[AMR][1000 genomes]
rs73390897	1.00[AMR][1000 genomes]
rs73393032	1.00[AMR][1000 genomes]
rs73393045	1.00[AMR][1000 genomes]
rs73397022	1.00[AMR][1000 genomes]
rs73401064	1.00[AMR][1000 genomes]
rs73401075	1.00[AMR][1000 genomes]
rs73401085	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73401088	1.00[AMR][1000 genomes]
rs73401101	1.00[AMR][1000 genomes]
rs73403003	1.00[AMR][1000 genomes]
rs73403006	1.00[AMR][1000 genomes]
rs73403025	1.00[AMR][1000 genomes]
rs73403028	1.00[AMR][1000 genomes]
rs73403032	1.00[AMR][1000 genomes]
rs73403036	1.00[AMR][1000 genomes]
rs73403038	1.00[AMR][1000 genomes]
rs73405063	1.00[AMR][1000 genomes]
rs73405072	1.00[AMR][1000 genomes]
rs73407010	1.00[AMR][1000 genomes]
rs73407015	1.00[AMR][1000 genomes]
rs73407023	1.00[AMR][1000 genomes]
rs73407027	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	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
2	esv1809952	chr22:29595349-29661434	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv829154	chr22:29617485-29724001	Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv834171	chr22:29626402-29829844	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29629000-29659400	Weak transcription	Brain Anterior Caudate	brain
2	chr22:29641600-29659800	Weak transcription	Ovary	ovary
3	chr22:29641600-29661800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr22:29641800-29657800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr22:29642000-29659600	Weak transcription	Colon Smooth Muscle	Colon
6	chr22:29642200-29659800	Weak transcription	Duodenum Mucosa	Duodenum
7	chr22:29642600-29662400	Strong transcription	Fetal Intestine Small	intestine
8	chr22:29643600-29660400	Weak transcription	Fetal Kidney	kidney
9	chr22:29644600-29659800	Weak transcription	Brain Substantia Nigra	brain
10	chr22:29647400-29662000	Strong transcription	Fetal Stomach	stomach
11	chr22:29648400-29657400	Strong transcription	Fetal Intestine Large	intestine
12	chr22:29649000-29662400	Weak transcription	Fetal Brain Male	brain
13	chr22:29649800-29657400	Strong transcription	Fetal Brain Female	brain
14	chr22:29650200-29662600	Weak transcription	Stomach Mucosa	stomach
15	chr22:29650600-29659800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr22:29650600-29660000	Weak transcription	Primary T cells from cord blood	blood
17	chr22:29650600-29660200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr22:29650800-29659800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr22:29651000-29659600	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr22:29651000-29660000	Weak transcription	HepG2	liver
21	chr22:29651800-29659600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr22:29652200-29659800	Weak transcription	HMEC	breast
23	chr22:29652400-29660200	Weak transcription	NHEK	skin
24	chr22:29653400-29657800	Strong transcription	Fetal Muscle Leg	muscle
25	chr22:29653400-29658800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr22:29653400-29659800	Weak transcription	NHLF	lung
27	chr22:29653600-29659600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr22:29653600-29662200	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr22:29653800-29657400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr22:29653800-29657400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr22:29653800-29657400	Strong transcription	Fetal Muscle Trunk	muscle
32	chr22:29654000-29657800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr22:29654000-29659600	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr22:29654000-29659800	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr22:29654200-29657400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr22:29654200-29657400	Strong transcription	Placenta	Placenta
37	chr22:29654200-29657400	Strong transcription	Stomach Smooth Muscle	stomach
38	chr22:29654200-29662600	Weak transcription	Rectal Smooth Muscle	rectum
39	chr22:29654400-29657600	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr22:29654400-29659800	Weak transcription	Aorta	Aorta
41	chr22:29654400-29660000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr22:29654600-29657400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr22:29654600-29659800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr22:29654600-29662200	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr22:29654600-29662400	Weak transcription	Primary hematopoietic stem cells	blood
46	chr22:29654600-29662400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr22:29654600-29662600	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr22:29654800-29662400	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr22:29655000-29657400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr22:29655000-29657400	Strong transcription	Skeletal Muscle Male	skeletal muscle

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