Variant report

Variant	rs540530791
Chromosome Location	chr22:29900614-29900615
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:29900180..29902259-chr22:29906979..29909604,2	MCF-7	breast:
2	chr22:29900167..29903084-chr22:29905527..29908118,2	K562	blood:
3	chr22:29875402..29878195-chr22:29898062..29901341,3	K562	blood:

Variant related genes	Relation type
ENSG00000100285	Chromatin interaction
ENSG00000100296	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv529742	chr22:29677909-30274388	Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv1058156	chr22:29772043-30024013	Strong transcription Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv544675	chr22:29772043-30024013	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv1062373	chr22:29826745-30092448	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv544676	chr22:29826745-30092448	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
7	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
8	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
9	nsv834172	chr22:29899036-30057948	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29878000-29900800	Weak transcription	Fetal Brain Female	brain
2	chr22:29878000-29903000	Weak transcription	Pancreas	Pancrea
3	chr22:29878800-29902600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr22:29879200-29901200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr22:29880400-29901000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr22:29882800-29903200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr22:29883800-29904000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr22:29884000-29902200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr22:29884800-29901200	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr22:29885000-29902600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr22:29885600-29904000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr22:29886000-29903400	Weak transcription	Gastric	stomach
13	chr22:29886200-29902800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr22:29887400-29902000	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr22:29887600-29902000	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr22:29888800-29901000	Weak transcription	Thymus	Thymus
17	chr22:29888800-29901200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr22:29889000-29900800	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr22:29890400-29900800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr22:29890800-29901800	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr22:29890800-29902200	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr22:29891000-29901400	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr22:29891000-29901400	Weak transcription	Primary B cells from cord blood	blood
24	chr22:29891000-29902600	Weak transcription	Primary hematopoietic stem cells	blood
25	chr22:29891000-29903600	Weak transcription	Spleen	Spleen
26	chr22:29891000-29904000	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr22:29891200-29901200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr22:29891200-29901200	Weak transcription	NHEK	skin
29	chr22:29891200-29902600	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr22:29891200-29902600	Weak transcription	Fetal Lung	lung
31	chr22:29891200-29903000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr22:29891400-29903000	Weak transcription	Aorta	Aorta
33	chr22:29891600-29902800	Weak transcription	HUVEC	blood vessel
34	chr22:29891600-29907400	Weak transcription	Fetal Brain Male	brain
35	chr22:29891800-29903600	Weak transcription	Small Intestine	intestine
36	chr22:29892800-29902200	Weak transcription	Duodenum Mucosa	Duodenum
37	chr22:29893000-29901200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr22:29893600-29901200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr22:29894200-29901400	Weak transcription	Dnd41	blood
40	chr22:29894200-29902600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr22:29894600-29902000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr22:29894600-29914800	Weak transcription	Hela-S3	cervix
43	chr22:29894800-29902400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr22:29895000-29902400	Weak transcription	Lung	lung
45	chr22:29895200-29902200	Weak transcription	Primary B cells from peripheral blood	blood
46	chr22:29895800-29916800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr22:29896400-29900800	Weak transcription	Fetal Intestine Small	intestine
48	chr22:29896600-29902000	Weak transcription	GM12878-XiMat	blood
49	chr22:29896800-29901400	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr22:29896800-29902200	Weak transcription	Stomach Smooth Muscle	stomach

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