Variant report

Variant	rs55894408
Chromosome Location	chr22:32012312-32012313
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:32006220..32009486-chr22:32009995..32012615,3	K562	blood:
2	chr22:32000416..32002977-chr22:32011227..32013739,3	K562	blood:
3	22:31803954-31807204..22:32011472-32012966	K562	blood:
4	22:31836635-31847259..22:32011472-32012966	GM12878	blood:
5	chr22:32011211..32013960-chr22:32020685..32023584,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198089	Chromatin interaction
ENSG00000241878	Chromatin interaction
ENSG00000184708	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs5997967	1.00[EUR][1000 genomes]

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	nsv914980	chr22:31966274-32024980	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv517534	chr22:31977594-32024980	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv829176	chr22:31998223-32029556	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv1845516	chr22:32010436-32024552	Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	esv2830290	chr22:32011225-32057964	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 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	chr22:31935800-32013200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr22:31949400-32014400	Weak transcription	Hela-S3	cervix
3	chr22:31957400-32016400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr22:31976200-32014800	Weak transcription	A549	lung
5	chr22:31976400-32014800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr22:31976400-32019200	Weak transcription	Fetal Brain Male	brain
7	chr22:31985600-32014000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr22:31985800-32012400	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr22:31985800-32014400	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr22:31985800-32014800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr22:31990400-32014200	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr22:31993200-32013800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr22:31996600-32018200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr22:31996600-32020600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr22:31998400-32015600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr22:31998600-32022000	Weak transcription	Fetal Kidney	kidney
17	chr22:31999000-32013800	Weak transcription	HMEC	breast
18	chr22:31999000-32014600	Weak transcription	NHDF-Ad	bronchial
19	chr22:31999400-32012800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr22:31999400-32014800	Weak transcription	NH-A	brain
21	chr22:32000200-32014600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr22:32001600-32012400	Weak transcription	NHEK	skin
23	chr22:32002600-32012400	Weak transcription	Stomach Mucosa	stomach
24	chr22:32003200-32013000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr22:32003600-32022000	Strong transcription	Dnd41	blood
26	chr22:32004400-32012400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr22:32004600-32012400	Weak transcription	Brain Cingulate Gyrus	brain
28	chr22:32004600-32013000	Weak transcription	Brain Angular Gyrus	brain
29	chr22:32005400-32013800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr22:32006000-32013800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr22:32006800-32015000	Weak transcription	Aorta	Aorta
32	chr22:32007200-32014000	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr22:32007400-32012600	Weak transcription	Liver	Liver
34	chr22:32007400-32012800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr22:32007400-32014800	Weak transcription	Fetal Lung	lung
36	chr22:32007600-32012600	Weak transcription	Colonic Mucosa	Colon
37	chr22:32007600-32013000	Weak transcription	Colon Smooth Muscle	Colon
38	chr22:32007800-32012400	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr22:32008000-32012800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr22:32008000-32012800	Weak transcription	NHLF	lung
41	chr22:32008000-32013000	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr22:32008000-32014600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr22:32008000-32014600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr22:32008000-32021200	Weak transcription	Fetal Heart	heart
45	chr22:32008000-32022600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr22:32008600-32015000	Genic enhancers	Fetal Intestine Large	intestine
47	chr22:32008800-32015000	Genic enhancers	Fetal Intestine Small	intestine
48	chr22:32009200-32012400	Enhancers	Fetal Muscle Trunk	muscle
49	chr22:32009600-32013200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr22:32009600-32021800	Strong transcription	Primary T cells from cord blood	blood

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