Variant report

Variant	rs5998161
Chromosome Location	chr22:32285303-32285304
allele	G/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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:32282841..32285556-chr22:32286866..32289280,2	K562	blood:
2	22:32284948-32287956..22:32868055-32872511	Hela-S3	cervix:
3	22:31836635-31847259..22:32284948-32287956	Hela-S3	cervix:
4	chr22:32284717..32286347-chr22:32297716..32300490,2	K562	blood:
5	22:32162110-32166713..22:32284948-32287956	GM12878	blood:
6	22:32170492-32188129..22:32284948-32287956	Hela-S3	cervix:
7	22:32284948-32287956..22:32338420-32342898	Hela-S3	cervix:
8	22:32284948-32287956..22:32342898-32343477	K562	blood:
9	22:32284948-32287956..22:33190123-33206921	K562	blood:
10	22:32264718-32278135..22:32284948-32287956	Hela-S3	cervix:
11	22:32053085-32061138..22:32284948-32287956	Hela-S3	cervix:
12	22:32284948-32287956..22:32334260-32338420	K562	blood:
13	22:31961151-31976153..22:32284948-32287956	K562	blood:
14	22:32284948-32287956..22:32750950-32761732	K562	blood:

No data

Variant related genes	Relation type
ENSG00000128245	Chromatin interaction
ENSG00000241878	Chromatin interaction
ENSG00000128254	Chromatin interaction
ENSG00000198089	Chromatin interaction
ENSG00000100225	Chromatin interaction
ENSG00000184708	Chromatin interaction
ENSG00000100234	Chromatin interaction
ENSG00000128276	Chromatin interaction
ENSG00000100150	Chromatin interaction
ENSG00000271093	Chromatin interaction
ENSG00000227813	Chromatin interaction
ENSG00000205853	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1013703	0.85[MEX][hapmap]
rs11089530	0.84[AMR][1000 genomes]
rs11089531	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11703040	0.84[AMR][1000 genomes]
rs11703104	0.82[CEU][hapmap];0.84[AMR][1000 genomes]
rs11703232	0.82[CEU][hapmap];1.00[MEX][hapmap];0.84[AMR][1000 genomes]
rs11703810	0.84[AMR][1000 genomes]
rs11703818	0.82[AFR][1000 genomes]
rs11912760	1.00[CHB][hapmap]
rs12159673	0.82[CEU][hapmap];0.82[AMR][1000 genomes]
rs16989529	0.82[CEU][hapmap];1.00[MEX][hapmap];0.84[AMR][1000 genomes]
rs16989540	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap]
rs16989600	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.81[AMR][1000 genomes]
rs16989609	0.89[LWK][hapmap];0.80[MKK][hapmap];0.83[YRI][hapmap];0.86[AFR][1000 genomes]
rs16989711	1.00[CHB][hapmap]
rs2040981	0.93[MEX][hapmap]
rs2051583	1.00[ASW][hapmap];1.00[CHB][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.85[MEX][hapmap];0.91[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs28542543	0.85[AFR][1000 genomes]
rs3213524	0.89[LWK][hapmap];0.89[MKK][hapmap];0.88[YRI][hapmap];0.86[AFR][1000 genomes]
rs3788436	0.89[LWK][hapmap];0.89[MKK][hapmap];0.88[YRI][hapmap];0.86[AFR][1000 genomes]
rs55645350	0.82[AMR][1000 genomes]
rs55699591	0.82[AMR][1000 genomes]
rs5994435	0.82[AMR][1000 genomes]
rs5994436	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs5994446	0.81[MEX][hapmap]
rs5998133	0.93[MEX][hapmap]
rs5998134	0.82[CEU][hapmap];1.00[MEX][hapmap];0.84[AMR][1000 genomes]
rs5998135	0.82[CEU][hapmap];0.84[AMR][1000 genomes]
rs5998144	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.81[ASN][1000 genomes]
rs5998150	0.81[ASN][1000 genomes]
rs5998155	0.81[ASN][1000 genomes]
rs5998157	0.86[AFR][1000 genomes]
rs5998160	0.86[AFR][1000 genomes]
rs5998170	0.88[YRI][hapmap];0.83[AFR][1000 genomes]
rs62238934	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7289702	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7291742	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs73884225	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs5998161	MORC2	cis	temporal cortex	BrainEAC
rs5998161	C22orf30	cis	temporal cortex	BrainEAC

Chromatin state (count:125 , 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	chr22:32243200-32294200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr22:32244400-32305400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr22:32244600-32303400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr22:32247600-32307400	Weak transcription	Hela-S3	cervix
6	chr22:32249200-32289200	Weak transcription	HepG2	liver
7	chr22:32254200-32293800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr22:32256800-32293400	Weak transcription	Fetal Brain Male	brain
9	chr22:32261600-32296200	Strong transcription	Liver	Liver
10	chr22:32262000-32289600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr22:32264200-32287400	Strong transcription	Fetal Stomach	stomach
12	chr22:32264200-32296000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr22:32264400-32287200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr22:32265000-32287000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr22:32265000-32287200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr22:32265400-32293600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr22:32267000-32297400	Weak transcription	Fetal Heart	heart
18	chr22:32267200-32287200	Weak transcription	Fetal Kidney	kidney
19	chr22:32267600-32287200	Weak transcription	NH-A	brain
20	chr22:32267800-32287400	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr22:32268000-32287200	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr22:32268000-32308000	Weak transcription	A549	lung
23	chr22:32271200-32287400	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr22:32271200-32291600	Weak transcription	Small Intestine	intestine
25	chr22:32271200-32303400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr22:32271400-32298400	Weak transcription	HSMMtube	muscle
27	chr22:32271600-32297400	Weak transcription	HSMM	muscle
28	chr22:32272600-32293600	Weak transcription	HUVEC	blood vessel
29	chr22:32272600-32298200	Weak transcription	NHLF	lung
30	chr22:32272800-32287200	Weak transcription	NHDF-Ad	bronchial
31	chr22:32273000-32287000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr22:32273000-32304000	Weak transcription	HMEC	breast
33	chr22:32274000-32295000	Strong transcription	Primary T helper cells fromperipheralblood	blood
34	chr22:32274000-32306600	Strong transcription	Primary B cells from peripheral blood	blood
35	chr22:32274400-32306600	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr22:32275000-32296200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr22:32275200-32296000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr22:32275600-32293200	Weak transcription	Psoas Muscle	Psoas
39	chr22:32275600-32295800	Strong transcription	Primary T cells from cord blood	blood
40	chr22:32276000-32287200	Weak transcription	Brain Anterior Caudate	brain
41	chr22:32276000-32287400	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr22:32276000-32289400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr22:32276000-32315200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr22:32276200-32287400	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr22:32276200-32287400	Weak transcription	Brain Substantia Nigra	brain
46	chr22:32276200-32289400	Weak transcription	Esophagus	oesophagus
47	chr22:32276200-32291200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr22:32276400-32287200	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr22:32276400-32287200	Weak transcription	Brain Hippocampus Middle	brain
50	chr22:32276600-32287200	Weak transcription	HUES48 Cell Line	embryonic stem cell

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