Variant report

Variant	rs544195597
Chromosome Location	chr22:29605845-29605846
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:29603086..29606057-chr22:29664265..29665857,2	MCF-7	breast:
2	chr22:29601902..29603639-chr22:29605724..29608269,2	K562	blood:
3	chr22:29605515..29607665-chr22:29648338..29651149,2	K562	blood:

Variant related genes	Relation type
ENSG00000182944	Chromatin interaction
ENSG00000186998	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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	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

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29602400-29606200	Flanking Active TSS	Fetal Brain Female	brain
2	chr22:29602800-29611000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr22:29602800-29616000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr22:29602800-29616000	Weak transcription	Ovary	ovary
5	chr22:29603000-29606000	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr22:29603000-29606000	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
7	chr22:29603000-29610800	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr22:29603400-29606000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr22:29603400-29606000	Enhancers	Fetal Lung	lung
10	chr22:29603400-29608800	Weak transcription	Stomach Smooth Muscle	stomach
11	chr22:29603400-29611000	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr22:29603600-29606000	Transcr. at gene 5' and 3'	Dnd41	blood
13	chr22:29603600-29606800	Weak transcription	Fetal Kidney	kidney
14	chr22:29603800-29612600	Weak transcription	Brain Angular Gyrus	brain
15	chr22:29604000-29606000	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr22:29604000-29606200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr22:29604000-29606200	Transcr. at gene 5' and 3'	Fetal Intestine Large	intestine
18	chr22:29604000-29616200	Weak transcription	Thymus	Thymus
19	chr22:29604600-29606000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr22:29604600-29606000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
21	chr22:29604600-29608400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr22:29604800-29606000	Enhancers	Placenta	Placenta
23	chr22:29604800-29606200	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr22:29604800-29612600	Weak transcription	Brain Cingulate Gyrus	brain
25	chr22:29605000-29606000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr22:29605000-29606800	Weak transcription	Pancreas	Pancrea
27	chr22:29605000-29607000	Enhancers	H1 Cell Line	embryonic stem cell
28	chr22:29605000-29607200	Enhancers	Fetal Brain Male	brain
29	chr22:29605000-29619400	Weak transcription	Colonic Mucosa	Colon
30	chr22:29605200-29606000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr22:29605400-29607000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr22:29605400-29607800	Genic enhancers	Spleen	Spleen
33	chr22:29605400-29612200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr22:29605400-29612600	Weak transcription	Fetal Muscle Trunk	muscle
35	chr22:29605400-29614400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr22:29605400-29616000	Weak transcription	Lung	lung
37	chr22:29605600-29606000	Enhancers	Primary hematopoietic stem cells	blood
38	chr22:29605600-29606000	Bivalent Enhancer	Brain Hippocampus Middle	brain
39	chr22:29605600-29606200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr22:29605600-29606400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr22:29605600-29607200	Weak transcription	Duodenum Mucosa	Duodenum
42	chr22:29605600-29607200	Weak transcription	Fetal Heart	heart
43	chr22:29605600-29607200	Weak transcription	Gastric	stomach
44	chr22:29605800-29606000	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr22:29605800-29606200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
46	chr22:29605800-29606200	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr22:29605800-29606200	Active TSS	GM12878-XiMat	blood
48	chr22:29605800-29606400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr22:29605800-29606800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr22:29605800-29607600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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