Variant report

Variant	rs71327333
Chromosome Location	chr22:29464739-29464740
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:29464693-29464743	HIPEpiC	eye:	n/a
2	chr22:29464693-29464743	SAEC	small airway:	n/a
3	chr22:29464693-29464743	Caco-2	colon:	n/a
4	chr22:29464693-29464743	AoSMC	blood vessel:	n/a
5	chr22:29464693-29464743	HepG2	liver:	n/a
6	chr22:29464693-29464743	HEEpiC	esophagus:	n/a
7	chr22:29464693-29464743	BJ	skin:	n/a
8	chr22:29464693-29464743	AG10803	skin:	n/a
9	chr22:29464693-29464743	HNPCEpiC	eye:	n/a
10	chr22:29464693-29464743	PANC-1	pancreas:	n/a
11	chr22:29464693-29464743	BE2_C	brain:	n/a
12	chr22:29464693-29464743	CMK	blood:	n/a
13	chr22:29464693-29464743	Jurkat	blood:	n/a
14	chr22:29464693-29464743	H1-hESC	embryonic stem cell:	embryo
15	chr22:29464693-29464743	SK-N-SH	brain:	n/a
16	chr22:29464693-29464743	AG04449	skin:	fetal
17	chr22:29464693-29464743	HRCEpiC	kidney:	n/a
18	chr22:29464693-29464743	MCF-7	breast:	n/a
19	chr22:29464693-29464743	GM06990	blood:	n/a
20	chr22:29464693-29464743	HCF	heart:	n/a
21	chr22:29464693-29464743	HUVEC	blood vessel:	n/a
22	chr22:29464693-29464743	NHBE	bronchial:	n/a
23	chr22:29464693-29464743	NHDF-neo	bronchial:	n/a
24	chr22:29464693-29464743	HRE	kidney:	n/a
25	chr22:29464693-29464743	NT2-D1	testis:	n/a
26	chr22:29464693-29464743	SK-N-MC	brain:	n/a
27	chr22:29464693-29464743	A549	lung:	n/a
28	chr22:29464693-29464743	PrEC	prostate:	n/a
29	chr22:29464693-29464743	HCPEpiC	choroid plexus:	n/a
30	chr22:29464693-29464743	GM12891	blood:	n/a
31	chr22:29464693-29464743	T-47D	breast:	n/a
32	chr22:29464693-29464743	HAEpiC	amniotic membrane:	n/a
33	chr22:29464693-29464743	HCT-116	colon:	n/a
34	chr22:29464693-29464743	GM12892	blood:	n/a
35	chr22:29464693-29464743	HMEC	breast:	n/a
36	chr22:29464693-29464743	RPTEC	kidney:	n/a
37	chr22:29464693-29464743	GM19239	blood:	n/a
38	chr22:29464693-29464743	K562	blood:	n/a
39	chr22:29464693-29464743	Hepatocyte	liver:	n/a
40	chr22:29464693-29464743	ProgFib	skin:	n/a
41	chr22:29464693-29464743	SKMC	muscle:	n/a
42	chr22:29464693-29464743	Hela-S3	cervix:	n/a
43	chr22:29464693-29464743	NH-A	brain:	n/a
44	chr22:29464693-29464743	SK-N-SH_RA	brain:	n/a
45	chr22:29464693-29464743	AG09319	gingival:	n/a
46	chr22:29464693-29464743	GM12878	blood:	n/a
47	chr22:29464693-29464743	HL-60	blood:	n/a
48	chr22:29464693-29464743	HEK293	kidney:	embryo
49	chr22:29464693-29464743	HRPEpiC	eye:	n/a
50	chr22:29464693-29464743	AG09309	skin:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:29464232..29466392-chr22:29545552..29548185,2	K562	blood:
2	chr22:29460513..29462315-chr22:29463716..29465487,2	MCF-7	breast:
3	chr22:29461925..29465373-chr22:29467128..29469603,3	K562	blood:
4	chr22:29461478..29465218-chr22:29467566..29469603,3	K562	blood:
5	chr22:29446612..29448382-chr22:29463613..29465262,2	MCF-7	breast:

No data

Variant related genes	Relation type
KREMEN1	CpG island
ENSG00000183762	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs13058510	0.81[AFR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2294242	0.86[EUR][1000 genomes]
rs34101206	0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34967120	0.86[EUR][1000 genomes]
rs5752863	0.93[AFR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5752866	0.86[EUR][1000 genomes]
rs5762981	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5762982	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5762985	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5762986	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29451800-29465200	Weak transcription	Fetal Intestine Small	intestine
2	chr22:29451800-29467000	Weak transcription	Ovary	ovary
3	chr22:29455800-29465600	Weak transcription	K562	blood
4	chr22:29458600-29466600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr22:29459000-29465400	Weak transcription	Psoas Muscle	Psoas
6	chr22:29462200-29467800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr22:29462400-29465000	Weak transcription	HepG2	liver
8	chr22:29462400-29465800	Weak transcription	Thymus	Thymus
9	chr22:29462400-29467800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr22:29462400-29467800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr22:29462600-29465000	Weak transcription	Fetal Thymus	thymus
12	chr22:29463800-29465000	Weak transcription	Fetal Muscle Trunk	muscle
13	chr22:29463800-29468400	Weak transcription	Dnd41	blood
14	chr22:29464000-29465000	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr22:29464000-29465000	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr22:29464200-29465400	Enhancers	Fetal Muscle Leg	muscle

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