Variant report

Variant	rs117943290
Chromosome Location	chr22:30082110-30082111
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	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
7	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
8	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
9	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

No data

Chromatin state (count:125 , 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	chr22:30020800-30097000	Weak transcription	Stomach Mucosa	stomach
3	chr22:30050200-30084800	Strong transcription	Primary T helper cells fromperipheralblood	blood
4	chr22:30050400-30084400	Strong transcription	Left Ventricle	heart
5	chr22:30050400-30093000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr22:30050800-30084800	Strong transcription	Thymus	Thymus
7	chr22:30051000-30083600	Strong transcription	Fetal Muscle Leg	muscle
8	chr22:30051000-30085400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr22:30051400-30082600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr22:30053400-30084400	Strong transcription	Primary T helper cells PMA-I stimulated	--
11	chr22:30053400-30087400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr22:30053800-30084600	Strong transcription	Fetal Stomach	stomach
13	chr22:30054000-30094800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr22:30055400-30095200	Strong transcription	Fetal Intestine Small	intestine
15	chr22:30056000-30094800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr22:30056200-30084600	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr22:30056200-30084800	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr22:30056400-30084600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr22:30057800-30085600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr22:30057800-30086000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr22:30058200-30084200	Strong transcription	Muscle Satellite Cultured Cells	--
22	chr22:30060000-30084800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr22:30060200-30093600	Strong transcription	Fetal Thymus	thymus
24	chr22:30061000-30083600	Strong transcription	NH-A	brain
25	chr22:30061000-30084400	Strong transcription	Osteobl	bone
26	chr22:30062000-30084600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr22:30063000-30083400	Strong transcription	Primary B cells from peripheral blood	blood
28	chr22:30063200-30084000	Strong transcription	Skeletal Muscle Female	skeletal muscle
29	chr22:30063200-30084400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr22:30063200-30084400	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr22:30063200-30084600	Strong transcription	Sigmoid Colon	Sigmoid Colon
32	chr22:30063400-30084400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr22:30063400-30084400	Strong transcription	Fetal Muscle Trunk	muscle
34	chr22:30063400-30084600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr22:30063400-30084800	Strong transcription	Dnd41	blood
36	chr22:30063400-30085000	Strong transcription	Duodenum Mucosa	Duodenum
37	chr22:30063400-30094600	Strong transcription	Primary T cells from cord blood	blood
38	chr22:30063600-30084600	Strong transcription	Liver	Liver
39	chr22:30063800-30084200	Strong transcription	HSMM	muscle
40	chr22:30063800-30084400	Strong transcription	Skeletal Muscle Male	skeletal muscle
41	chr22:30063800-30084400	Strong transcription	NHEK	skin
42	chr22:30064000-30083800	Strong transcription	Ovary	ovary
43	chr22:30064000-30084600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr22:30065200-30085200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr22:30066400-30083800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr22:30067600-30082600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr22:30067800-30082200	Strong transcription	Brain Hippocampus Middle	brain
48	chr22:30068000-30085600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr22:30069600-30082800	Strong transcription	Spleen	Spleen
50	chr22:30069800-30084400	Strong transcription	HMEC	breast

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