Variant report

Variant	rs553951629
Chromosome Location	chr22:30330641-30330642
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv1064489	chr22:30316627-30361881	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv869764	chr22:30323649-30367813	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv523696	chr22:30326102-30381789	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1058511	chr22:30330447-30361881	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	esv2763694	chr22:30330459-30361881	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30311000-30333200	Weak transcription	Primary B cells from cord blood	blood
2	chr22:30311600-30343800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr22:30311800-30340400	Weak transcription	HSMM	muscle
4	chr22:30312600-30339800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr22:30313000-30343800	Weak transcription	Fetal Stomach	stomach
6	chr22:30313600-30339800	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr22:30313600-30354200	Weak transcription	Small Intestine	intestine
8	chr22:30314200-30334200	Weak transcription	Brain Cingulate Gyrus	brain
9	chr22:30318000-30334000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr22:30319800-30333800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr22:30320400-30331200	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr22:30320400-30333800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr22:30320600-30339800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr22:30321400-30331200	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr22:30321400-30339800	Weak transcription	Lung	lung
16	chr22:30321800-30334000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr22:30322000-30332200	Weak transcription	Fetal Intestine Small	intestine
18	chr22:30324400-30337800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr22:30327600-30331800	Weak transcription	Pancreas	Pancrea
20	chr22:30327600-30342200	Weak transcription	Brain Angular Gyrus	brain
21	chr22:30328200-30333800	Weak transcription	Primary T cells from cord blood	blood
22	chr22:30328400-30332000	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr22:30328400-30333800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr22:30328400-30343600	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr22:30328400-30351800	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr22:30328600-30331200	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr22:30328600-30331200	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr22:30328600-30331200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr22:30328600-30332200	Weak transcription	Adipose Nuclei	Adipose
30	chr22:30328600-30332400	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr22:30328800-30333400	Weak transcription	GM12878-XiMat	blood
32	chr22:30329000-30331400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr22:30329000-30332000	Weak transcription	HUVEC	blood vessel
34	chr22:30329200-30331800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr22:30329400-30331400	Enhancers	Brain Substantia Nigra	brain
36	chr22:30329800-30331000	Enhancers	Ovary	ovary
37	chr22:30329800-30332200	Weak transcription	Brain Anterior Caudate	brain
38	chr22:30330400-30330800	Enhancers	Fetal Heart	heart
39	chr22:30330400-30331000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr22:30330400-30331800	Weak transcription	Left Ventricle	heart
41	chr22:30330400-30331800	Weak transcription	Psoas Muscle	Psoas
42	chr22:30330400-30332000	Weak transcription	Brain Hippocampus Middle	brain
43	chr22:30330400-30333800	Weak transcription	Right Atrium	heart
44	chr22:30330600-30330800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
45	chr22:30330600-30331600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr22:30330600-30331600	Weak transcription	A549	lung
47	chr22:30330600-30339400	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr22:30330600-30342200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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