Variant report

Variant	rs573638493
Chromosome Location	chr22:30096543-30096544
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:30091841..30093848-chr22:30094919..30097302,3	MCF-7	breast:
2	chr22:30086550..30091376-chr22:30091742..30099600,10	MCF-7	breast:
3	chr22:30096098..30098972-chr22:30384609..30387065,2	MCF-7	breast:
4	chr22:30094321..30096563-chr22:30160914..30162763,2	MCF-7	breast:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	nsv529737	chr22:30060946-30109561	Bivalent Enhancer Genic enhancers Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv914963	chr22:30075052-30133579	Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv914964	chr22:30081715-30150549	Bivalent Enhancer Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv515720	chr22:30081715-30163526	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv914965	chr22:30086144-30112226	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv914966	chr22:30088442-30138548	Weak transcription Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	esv1816879	chr22:30096309-30126906	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30020800-30097000	Weak transcription	Stomach Mucosa	stomach
2	chr22:30075400-30097400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr22:30079600-30097000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr22:30079600-30097400	Weak transcription	Hela-S3	cervix
5	chr22:30080000-30097000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr22:30080200-30098800	Weak transcription	GM12878-XiMat	blood
7	chr22:30086400-30096600	Weak transcription	NHDF-Ad	bronchial
8	chr22:30086600-30098000	Weak transcription	Colon Smooth Muscle	Colon
9	chr22:30087000-30098400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr22:30088200-30096800	Weak transcription	K562	blood
11	chr22:30089000-30096800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr22:30089600-30098200	Weak transcription	Right Atrium	heart
13	chr22:30090400-30096600	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr22:30090600-30097000	Weak transcription	HepG2	liver
15	chr22:30090800-30097400	Weak transcription	Primary B cells from cord blood	blood
16	chr22:30091600-30097200	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr22:30092000-30096800	Weak transcription	Esophagus	oesophagus
18	chr22:30092000-30096800	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr22:30092000-30097400	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr22:30092200-30096600	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr22:30092200-30096800	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr22:30092600-30096800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr22:30092600-30098200	Weak transcription	Liver	Liver
24	chr22:30092800-30096800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr22:30092800-30097000	Weak transcription	HUVEC	blood vessel
26	chr22:30092800-30097200	Weak transcription	Placenta	Placenta
27	chr22:30092800-30097200	Weak transcription	Left Ventricle	heart
28	chr22:30093000-30099400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr22:30093200-30097000	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr22:30093600-30096800	Weak transcription	Primary B cells from peripheral blood	blood
31	chr22:30093800-30099200	Weak transcription	Aorta	Aorta
32	chr22:30094000-30097000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr22:30094200-30096600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr22:30094200-30096600	Weak transcription	Duodenum Mucosa	Duodenum
35	chr22:30094200-30096600	Weak transcription	Pancreas	Pancrea
36	chr22:30094200-30096800	Weak transcription	A549	lung
37	chr22:30094200-30097000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr22:30094200-30097000	Weak transcription	Brain Angular Gyrus	brain
39	chr22:30094400-30096600	Weak transcription	NHLF	lung
40	chr22:30094400-30097400	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr22:30094400-30098600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr22:30094400-30098600	Weak transcription	Ovary	ovary
43	chr22:30094600-30096600	Weak transcription	Primary T cells from cord blood	blood
44	chr22:30094600-30096600	Weak transcription	Brain Cingulate Gyrus	brain
45	chr22:30094600-30098200	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr22:30094800-30096600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr22:30094800-30096800	Weak transcription	Lung	lung
48	chr22:30094800-30097200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr22:30094800-30097800	Weak transcription	Brain Substantia Nigra	brain
50	chr22:30095000-30096800	Weak transcription	Dnd41	blood

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