Variant report

Variant	rs12628033
Chromosome Location	chr22:29550895-29550896
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:29540159..29541896-chr22:29549831..29552578,2	MCF-7	breast:
2	chr22:29448833..29450694-chr22:29548349..29551156,2	K562	blood:
3	chr22:29550189..29551060-chr22:29641253..29641991,3	MCF-7	breast:
4	chr22:29507172..29508987-chr22:29549481..29552085,2	K562	blood:
5	chr22:29476336..29477171-chr22:29550139..29551099,3	MCF-7	breast:
6	chr22:29194920..29197276-chr22:29549664..29552289,2	MCF-7	breast:
7	chr22:29507934..29508767-chr22:29550080..29551029,6	MCF-7	breast:
8	chr22:29468687..29470195-chr22:29550149..29552502,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000100219	Chromatin interaction
ENSG00000183762	Chromatin interaction
ENSG00000226471	Chromatin interaction
ENSG00000226772	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12628352	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs132292	1.00[ASN][1000 genomes]
rs132296	1.00[ASN][1000 genomes]
rs132300	0.98[ASN][1000 genomes]
rs132304	0.85[ASN][1000 genomes]
rs2301445	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2301446	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2347996	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3884934	0.91[ASN][1000 genomes]
rs4035128	0.91[ASN][1000 genomes]
rs469983	1.00[ASN][1000 genomes]
rs4823016	0.91[ASN][1000 genomes]
rs4823018	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5752871	0.98[ASN][1000 genomes]
rs5763006	1.00[ASN][1000 genomes]
rs5997447	0.85[ASN][1000 genomes]
rs9625722	0.91[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	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	nsv524483	chr22:29525126-29630337	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv817986	chr22:29540297-29568963	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29545400-29551000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr22:29546800-29551000	Enhancers	Fetal Muscle Leg	muscle
3	chr22:29547000-29551000	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr22:29547400-29551000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr22:29548800-29552400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr22:29549000-29551000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr22:29549400-29551000	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr22:29549400-29552400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr22:29549400-29552800	Weak transcription	Ovary	ovary
10	chr22:29549600-29551000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr22:29549800-29551000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr22:29550000-29551000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
13	chr22:29550000-29551000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr22:29550000-29551000	Enhancers	Brain Substantia Nigra	brain
15	chr22:29550000-29551000	Enhancers	Fetal Stomach	stomach
16	chr22:29550000-29551000	Enhancers	Fetal Thymus	thymus
17	chr22:29550200-29551000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
18	chr22:29550200-29551000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
19	chr22:29550200-29551000	Enhancers	Brain Cingulate Gyrus	brain
20	chr22:29550200-29551000	Enhancers	Brain Germinal Matrix	brain
21	chr22:29550200-29551000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
22	chr22:29550200-29551000	Enhancers	Fetal Heart	heart
23	chr22:29550200-29551000	Enhancers	Fetal Kidney	kidney
24	chr22:29550200-29551000	Enhancers	Stomach Mucosa	stomach
25	chr22:29550200-29551000	Enhancers	GM12878-XiMat	blood
26	chr22:29550200-29551000	Enhancers	HMEC	breast
27	chr22:29550400-29551000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
28	chr22:29550400-29551000	Enhancers	Fetal Intestine Large	intestine
29	chr22:29550400-29551000	Enhancers	Rectal Mucosa Donor 29	rectum
30	chr22:29550400-29552400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr22:29550600-29551000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr22:29550600-29551000	Enhancers	Primary neutrophils fromperipheralblood	blood
33	chr22:29550600-29551000	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr22:29550600-29551000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr22:29550600-29551000	Enhancers	Colon Smooth Muscle	Colon
36	chr22:29550600-29551000	Enhancers	HepG2	liver
37	chr22:29550600-29551800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr22:29550600-29551800	Weak transcription	Fetal Brain Female	brain
39	chr22:29550600-29552400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr22:29550600-29554200	Weak transcription	Thymus	Thymus
41	chr22:29550800-29551000	Enhancers	Primary hematopoietic stem cells	blood
42	chr22:29550800-29551000	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
43	chr22:29550800-29551000	Enhancers	Primary T helper cells PMA-I stimulated	--
44	chr22:29550800-29551000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr22:29550800-29551000	Flanking Active TSS	Liver	Liver
46	chr22:29550800-29551000	Enhancers	Brain Anterior Caudate	brain
47	chr22:29550800-29551000	Enhancers	Brain Hippocampus Middle	brain
48	chr22:29550800-29551000	Enhancers	Fetal Lung	lung
49	chr22:29550800-29551000	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr22:29550800-29551000	Enhancers	Skeletal Muscle Female	skeletal muscle

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