Variant report

Variant	rs17554391
Chromosome Location	chr22:30139377-30139378
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:30139115..30141689-chr22:30143703..30146029,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11703594	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs11704321	1.00[AFR][1000 genomes]
rs17643858	1.00[AFR][1000 genomes]
rs17711479	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17712103	1.00[AFR][1000 genomes]

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	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	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
5	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
6	nsv1065072	chr22:30102176-30155245	Strong transcription Weak transcription Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30123200-30142800	Weak transcription	Brain Substantia Nigra	brain
2	chr22:30123600-30146800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr22:30123600-30147000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr22:30125400-30146200	Weak transcription	NHLF	lung
5	chr22:30126000-30144600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr22:30126600-30145200	Strong transcription	Primary T cells from cord blood	blood
7	chr22:30127600-30140600	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr22:30129400-30144600	Strong transcription	Liver	Liver
9	chr22:30129800-30141000	Strong transcription	Fetal Stomach	stomach
10	chr22:30130000-30141000	Weak transcription	Colon Smooth Muscle	Colon
11	chr22:30130200-30150200	Weak transcription	A549	lung
12	chr22:30130400-30150600	Strong transcription	Fetal Intestine Small	intestine
13	chr22:30130600-30140200	Strong transcription	Skeletal Muscle Male	skeletal muscle
14	chr22:30130600-30149800	Weak transcription	Psoas Muscle	Psoas
15	chr22:30131000-30145800	Weak transcription	Primary hematopoietic stem cells	blood
16	chr22:30131200-30139800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr22:30131400-30148600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr22:30131600-30142200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr22:30131600-30144800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr22:30131600-30145600	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr22:30131600-30162000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr22:30131800-30147200	Strong transcription	Brain Inferior Temporal Lobe	brain
23	chr22:30133000-30140000	Strong transcription	Fetal Brain Female	brain
24	chr22:30133200-30144600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr22:30133400-30140800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr22:30133400-30144600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr22:30134000-30144600	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr22:30134200-30140800	Strong transcription	Adipose Nuclei	Adipose
29	chr22:30134200-30142600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr22:30134200-30144600	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr22:30134400-30140600	Weak transcription	HSMMtube	muscle
32	chr22:30134400-30144800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr22:30134400-30158400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr22:30134600-30140200	Strong transcription	Fetal Muscle Leg	muscle
35	chr22:30134600-30145200	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr22:30134800-30142600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr22:30135000-30139600	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr22:30135200-30139400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr22:30135400-30141200	Strong transcription	Brain Cingulate Gyrus	brain
40	chr22:30135400-30142200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr22:30135600-30141600	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr22:30136000-30141400	Weak transcription	Fetal Lung	lung
43	chr22:30136000-30154800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr22:30136600-30142000	Strong transcription	Primary B cells from cord blood	blood
45	chr22:30136600-30146600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr22:30136600-30146600	Weak transcription	Fetal Heart	heart
47	chr22:30136600-30146800	Weak transcription	Small Intestine	intestine
48	chr22:30136800-30145600	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr22:30136800-30146600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr22:30137200-30142600	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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