Variant report

Variant	rs538134094
Chromosome Location	chr22:30597657-30597658
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:30590030..30593992-chr22:30596510..30599068,3	K562	blood:

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	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
2	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
3	nsv834173	chr22:30515092-30658277	Enhancers ZNF genes & repeats Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv432239	chr22:30580161-30669883	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	esv3441265	chr22:30597552-30601950	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30592000-30601400	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr22:30592600-30598200	Weak transcription	Esophagus	oesophagus
3	chr22:30592800-30598000	Weak transcription	Gastric	stomach
4	chr22:30592800-30602800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr22:30592800-30604800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr22:30593000-30598000	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr22:30593200-30598000	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr22:30593200-30598200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr22:30593200-30598600	Weak transcription	Lung	lung
10	chr22:30593200-30600600	Weak transcription	Spleen	Spleen
11	chr22:30593400-30597800	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr22:30593400-30598200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr22:30593400-30598600	Weak transcription	Placenta	Placenta
14	chr22:30593600-30597800	Weak transcription	Duodenum Mucosa	Duodenum
15	chr22:30593600-30597800	Weak transcription	Fetal Stomach	stomach
16	chr22:30593600-30598200	Weak transcription	HSMMtube	muscle
17	chr22:30593600-30598400	Weak transcription	Fetal Intestine Large	intestine
18	chr22:30593600-30598600	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr22:30593600-30600800	Weak transcription	Small Intestine	intestine
20	chr22:30593600-30603000	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr22:30593800-30597800	Weak transcription	Fetal Kidney	kidney
22	chr22:30593800-30598000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr22:30593800-30600400	Weak transcription	Osteobl	bone
24	chr22:30594400-30597800	Weak transcription	NH-A	brain
25	chr22:30594400-30598600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr22:30594800-30597800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr22:30594800-30597800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr22:30594800-30597800	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr22:30594800-30597800	Weak transcription	NHDF-Ad	bronchial
30	chr22:30595000-30597800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr22:30595000-30597800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr22:30595000-30600400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr22:30595200-30597800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr22:30595200-30597800	Weak transcription	NHEK	skin
35	chr22:30595200-30598200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr22:30595400-30598200	Weak transcription	Fetal Thymus	thymus
37	chr22:30595600-30600800	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr22:30597000-30598200	Weak transcription	Pancreas	Pancrea
39	chr22:30597000-30598400	Enhancers	Hela-S3	cervix
40	chr22:30597400-30598600	Weak transcription	A549	lung
41	chr22:30597600-30603000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr22:30597600-30609800	Enhancers	Stomach Mucosa	stomach
43	chr22:30597600-30610000	Enhancers	Breast Myoepithelial Primary Cells	Breast

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