Variant report

Variant	rs578131486
Chromosome Location	chr22:30061633-30061634
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	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	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
3	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
4	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
5	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
6	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

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30014400-30085800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr22:30018000-30069200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr22:30020200-30064200	Weak transcription	Small Intestine	intestine
4	chr22:30020800-30097000	Weak transcription	Stomach Mucosa	stomach
5	chr22:30032200-30070000	Weak transcription	Fetal Brain Male	brain
6	chr22:30037200-30064200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr22:30038800-30069800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr22:30039000-30068000	Weak transcription	Hela-S3	cervix
9	chr22:30043800-30064000	Weak transcription	Fetal Heart	heart
10	chr22:30048000-30064000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr22:30048000-30064200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr22:30049600-30062000	Strong transcription	HSMM	muscle
13	chr22:30050000-30062400	Strong transcription	Primary T cells fromperipheralblood	blood
14	chr22:30050200-30061800	Strong transcription	Primary T cells from cord blood	blood
15	chr22:30050200-30075000	Strong transcription	Stomach Smooth Muscle	stomach
16	chr22:30050200-30084800	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr22:30050400-30061800	Strong transcription	Fetal Muscle Trunk	muscle
18	chr22:30050400-30062800	Strong transcription	Liver	Liver
19	chr22:30050400-30084400	Strong transcription	Left Ventricle	heart
20	chr22:30050400-30093000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr22:30050600-30062000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr22:30050800-30084800	Strong transcription	Thymus	Thymus
23	chr22:30051000-30083600	Strong transcription	Fetal Muscle Leg	muscle
24	chr22:30051000-30085400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr22:30051400-30082600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr22:30053000-30062000	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr22:30053200-30065600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr22:30053400-30084400	Strong transcription	Primary T helper cells PMA-I stimulated	--
29	chr22:30053400-30087400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr22:30053800-30081000	Strong transcription	Fetal Intestine Large	intestine
31	chr22:30053800-30084600	Strong transcription	Fetal Stomach	stomach
32	chr22:30054000-30062200	Strong transcription	Rectal Mucosa Donor 31	rectum
33	chr22:30054000-30094800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr22:30054400-30065200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr22:30054400-30067800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr22:30055000-30063400	Weak transcription	HepG2	liver
37	chr22:30055400-30070800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr22:30055400-30095200	Strong transcription	Fetal Intestine Small	intestine
39	chr22:30056000-30094800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr22:30056200-30070800	Weak transcription	Fetal Kidney	kidney
41	chr22:30056200-30084600	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr22:30056200-30084800	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr22:30056400-30064400	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr22:30056400-30066600	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr22:30056400-30084600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr22:30056800-30066400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr22:30057000-30062200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
48	chr22:30057200-30061800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr22:30057600-30063400	Weak transcription	Brain Angular Gyrus	brain
50	chr22:30057800-30064400	Weak transcription	A549	lung

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