Variant report

Variant	rs5994448
Chromosome Location	chr22:32298427-32298428
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	22:31836635-31847259..22:32294405-32304383	Hela-S3	cervix:
2	chr22:32284717..32286347-chr22:32297716..32300490,2	K562	blood:
3	22:32170492-32188129..22:32294405-32304383	Hela-S3	cervix:
4	22:32162110-32166713..22:32294405-32304383	H1-hESC	embryonic stem cell:	embryo
5	chr22:32290522..32293993-chr22:32297529..32299889,3	K562	blood:
6	chr22:32298176..32301039-chr22:32301198..32302729,2	K562	blood:
7	22:32102727-32109893..22:32294405-32304383	Hela-S3	cervix:
8	chr22:32297061..32299197-chr22:32349348..32352243,2	K562	blood:
9	chr22:32248849..32250387-chr22:32297522..32300325,2	K562	blood:
10	chr22:32282411..32284526-chr22:32298049..32300307,2	K562	blood:
11	22:31864703-31891033..22:32294405-32304383	K562	blood:
12	22:32294405-32304383..22:33262063-33266567	Hela-S3	cervix:
13	chr22:32298281..32304022-chr22:32340378..32343394,6	K562	blood:
14	22:32294405-32304383..22:32868055-32872511	Hela-S3	cervix:
15	22:32053085-32061138..22:32294405-32304383	K562	blood:
16	22:32012966-32043914..22:32294405-32304383	Hela-S3	cervix:

No data

Variant related genes	Relation type
ENSG00000199248	Chromatin interaction
ENSG00000198089	Chromatin interaction
ENSG00000238910	Chromatin interaction
ENSG00000128254	Chromatin interaction
ENSG00000183530	Chromatin interaction
ENSG00000184708	Chromatin interaction
ENSG00000128245	Chromatin interaction
ENSG00000241878	Chromatin interaction
ENSG00000185666	Chromatin interaction
ENSG00000100225	Chromatin interaction
ENSG00000100150	Chromatin interaction

rs_ID	r²[population]
rs12170536	1.00[ASN][1000 genomes]
rs5994440	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs5994447	0.87[AFR][1000 genomes]
rs5998142	0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs5998165	0.87[AFR][1000 genomes]
rs5998169	0.83[EUR][1000 genomes]
rs7286575	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs737084	0.95[ASN][1000 genomes]
rs9621361	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs9621363	0.87[AFR][1000 genomes]

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32242400-32313400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr22:32244400-32305400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr22:32244600-32303400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr22:32247600-32307400	Weak transcription	Hela-S3	cervix
5	chr22:32268000-32308000	Weak transcription	A549	lung
6	chr22:32271200-32303400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr22:32273000-32304000	Weak transcription	HMEC	breast
8	chr22:32274000-32306600	Strong transcription	Primary B cells from peripheral blood	blood
9	chr22:32274400-32306600	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr22:32276000-32315200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr22:32277600-32302400	Weak transcription	NHEK	skin
12	chr22:32281000-32314800	Weak transcription	Right Atrium	heart
13	chr22:32281200-32300800	Weak transcription	Colon Smooth Muscle	Colon
14	chr22:32281400-32301600	Weak transcription	Pancreas	Pancrea
15	chr22:32284000-32302200	Strong transcription	Fetal Muscle Trunk	muscle
16	chr22:32287800-32302000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr22:32288000-32298600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr22:32288000-32303400	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr22:32288000-32307800	Weak transcription	NH-A	brain
20	chr22:32288200-32308800	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr22:32289200-32299200	Strong transcription	Lung	lung
22	chr22:32290200-32298600	Weak transcription	Esophagus	oesophagus
23	chr22:32291400-32308200	Strong transcription	Fetal Stomach	stomach
24	chr22:32292200-32307400	Weak transcription	Osteobl	bone
25	chr22:32293800-32308000	Weak transcription	Small Intestine	intestine
26	chr22:32294000-32301600	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr22:32294200-32298600	Weak transcription	Psoas Muscle	Psoas
28	chr22:32294200-32308600	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr22:32294400-32300800	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr22:32294400-32301400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr22:32294400-32304600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr22:32294800-32307000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr22:32295000-32299800	Weak transcription	Fetal Thymus	thymus
34	chr22:32295000-32305600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr22:32295000-32307600	Weak transcription	NHDF-Ad	bronchial
36	chr22:32295200-32300800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr22:32295200-32301600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr22:32295800-32305600	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr22:32295800-32314600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr22:32296000-32304200	Weak transcription	HepG2	liver
41	chr22:32297000-32299000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr22:32297000-32304400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr22:32297000-32304400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr22:32297000-32304400	Strong transcription	Thymus	Thymus
45	chr22:32297000-32306800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
46	chr22:32297000-32307600	Strong transcription	Liver	Liver
47	chr22:32297200-32298600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr22:32297200-32298800	Genic enhancers	Fetal Intestine Small	intestine
49	chr22:32297200-32299000	Strong transcription	Primary B cells from cord blood	blood
50	chr22:32297200-32299000	Enhancers	HUVEC	blood vessel

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