Variant report

Variant	rs538828162
Chromosome Location	chr22:29612568-29612569
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:29602636..29604550-chr22:29611942..29613555,2	K562	blood:
2	chr22:29611701..29614819-chr22:29620518..29622673,3	K562	blood:
3	chr22:29612161..29619581-chr22:29619796..29623989,9	K562	blood:
4	chr22:29612167..29614111-chr22:29627917..29629464,2	K562	blood:
5	chr22:29612019..29613931-chr22:29615202..29617842,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000186998	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv914958	chr22:29586058-29620599	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	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
5	esv1806500	chr22:29604787-29635071	Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv522714	chr22:29612508-29630337	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29602800-29616000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr22:29602800-29616000	Weak transcription	Ovary	ovary
3	chr22:29603800-29612600	Weak transcription	Brain Angular Gyrus	brain
4	chr22:29604000-29616200	Weak transcription	Thymus	Thymus
5	chr22:29604800-29612600	Weak transcription	Brain Cingulate Gyrus	brain
6	chr22:29605000-29619400	Weak transcription	Colonic Mucosa	Colon
7	chr22:29605400-29612600	Weak transcription	Fetal Muscle Trunk	muscle
8	chr22:29605400-29614400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr22:29605400-29616000	Weak transcription	Lung	lung
10	chr22:29605800-29612800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr22:29606000-29612600	Weak transcription	Brain Hippocampus Middle	brain
12	chr22:29606200-29616000	Strong transcription	Fetal Intestine Large	intestine
13	chr22:29607200-29612600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr22:29607600-29615000	Enhancers	Fetal Brain Male	brain
15	chr22:29607600-29615200	Weak transcription	Gastric	stomach
16	chr22:29607600-29616000	Strong transcription	Fetal Intestine Small	intestine
17	chr22:29607600-29621000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr22:29607600-29621000	Weak transcription	Esophagus	oesophagus
19	chr22:29607800-29614000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr22:29607800-29616000	Weak transcription	Duodenum Mucosa	Duodenum
21	chr22:29608600-29615200	Strong transcription	Dnd41	blood
22	chr22:29609200-29616400	Weak transcription	Fetal Kidney	kidney
23	chr22:29609400-29615400	Strong transcription	Fetal Stomach	stomach
24	chr22:29610000-29615600	Genic enhancers	Spleen	Spleen
25	chr22:29610400-29613000	Weak transcription	Fetal Muscle Leg	muscle
26	chr22:29611000-29613000	Strong transcription	Fetal Brain Female	brain
27	chr22:29611000-29613600	Enhancers	GM12878-XiMat	blood
28	chr22:29611400-29612600	Strong transcription	Brain Germinal Matrix	brain
29	chr22:29611400-29616000	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr22:29611600-29612600	Strong transcription	Fetal Lung	lung
31	chr22:29611600-29616000	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr22:29611600-29616000	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr22:29611600-29616200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr22:29611600-29620800	Weak transcription	Primary hematopoietic stem cells	blood
35	chr22:29611800-29613400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
36	chr22:29611800-29613800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr22:29611800-29614400	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr22:29611800-29616000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr22:29611800-29621400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr22:29612000-29612800	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr22:29612200-29614000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr22:29612200-29614600	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr22:29612200-29614800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr22:29612200-29614800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr22:29612200-29614800	Enhancers	Pancreas	Pancrea
46	chr22:29612400-29612600	Enhancers	Brain Anterior Caudate	brain
47	chr22:29612400-29613200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr22:29612400-29614000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr22:29612400-29621200	Weak transcription	Cortex derived primary cultured neurospheres	brain

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