Variant report

Variant	rs12524122
Chromosome Location	chr6:38679592-38679593
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:0)
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	chr6:38679582-38679632	Jurkat	blood:	n/a
2	chr6:38679582-38679632	GM12878	blood:	n/a
3	chr6:38679582-38679632	HMEC	breast:	n/a
4	chr6:38679582-38679632	GM19239	blood:	n/a
5	chr6:38679582-38679632	HIPEpiC	eye:	n/a
6	chr6:38679582-38679632	HNPCEpiC	eye:	n/a
7	chr6:38679582-38679632	SK-N-MC	brain:	n/a
8	chr6:38679582-38679632	HPAEpiC	pulmonary alveolar:	n/a
9	chr6:38679582-38679632	ovcar-3	ovarian:	n/a
10	chr6:38679582-38679632	NH-A	brain:	n/a
11	chr6:38679582-38679632	PANC-1	pancreas:	n/a
12	chr6:38679582-38679632	AG04450	lung:	fetal
13	chr6:38679582-38679632	PFSK-1	brain:	n/a
14	chr6:38679582-38679632	HL-60	blood:	n/a
15	chr6:38679582-38679632	T-47D	breast:	n/a
16	chr6:38679582-38679632	CMK	blood:	n/a
17	chr6:38679582-38679632	K562	blood:	n/a
18	chr6:38679582-38679632	HepG2	liver:	n/a
19	chr6:38679582-38679632	PrEC	prostate:	n/a
20	chr6:38679582-38679632	NB4	blood:	n/a
21	chr6:38679582-38679632	AoSMC	blood vessel:	n/a
22	chr6:38679582-38679632	HCM	heart:	n/a
23	chr6:38679582-38679632	AG10803	skin:	n/a
24	chr6:38679582-38679632	HCT-116	colon:	n/a
25	chr6:38679582-38679632	HUVEC	blood vessel:	n/a
26	chr6:38679582-38679632	NHDF-neo	bronchial:	n/a
27	chr6:38679582-38679632	SK-N-SH_RA	brain:	n/a
28	chr6:38679582-38679632	SK-N-SH	brain:	n/a
29	chr6:38679582-38679632	AG09309	skin:	n/a
30	chr6:38679582-38679632	HAEpiC	amniotic membrane:	n/a
31	chr6:38679582-38679632	GM12892	blood:	n/a
32	chr6:38679582-38679632	HCPEpiC	choroid plexus:	n/a
33	chr6:38679582-38679632	GM12891	blood:	n/a
34	chr6:38679582-38679632	MCF-7	breast:	n/a
35	chr6:38679582-38679632	SAEC	small airway:	n/a
36	chr6:38679582-38679632	IMR90	lung:	fetal
37	chr6:38679582-38679632	AG09319	gingival:	n/a
38	chr6:38679582-38679632	HCF	heart:	n/a
39	chr6:38679582-38679632	HRE	kidney:	n/a
40	chr6:38679582-38679632	Caco-2	colon:	n/a
41	chr6:38679582-38679632	U87	brain:	n/a
42	chr6:38679582-38679632	HRCEpiC	kidney:	n/a
43	chr6:38679582-38679632	ECC-1	luminal epithelium:	n/a
44	chr6:38679582-38679632	SKMC	muscle:	n/a
45	chr6:38679582-38679632	A549	lung:	n/a
46	chr6:38679582-38679632	HEK293	kidney:	embryo
47	chr6:38679582-38679632	MCF10A-Er-Src	breast:	n/a
48	chr6:38679582-38679632	Hela-S3	cervix:	n/a
49	chr6:38679582-38679632	ProgFib	skin:	n/a
50	chr6:38679582-38679632	H1-hESC	embryonic stem cell:	embryo

No data

Variant related genes	Relation type
DNAH8	CpG island

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10484855	1.00[YRI][hapmap]
rs12524113	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12526818	1.00[CEU][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12527476	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12528446	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12529780	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12660979	0.84[AMR][1000 genomes]
rs12661103	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12664739	1.00[CEU][hapmap];0.80[AMR][1000 genomes]
rs13191302	1.00[YRI][hapmap]
rs13196356	0.84[ASN][1000 genomes]
rs13196708	1.00[YRI][hapmap]
rs13198900	1.00[YRI][hapmap]
rs13203443	1.00[YRI][hapmap]
rs13217234	1.00[YRI][hapmap]
rs17544311	1.00[YRI][hapmap]
rs2277109	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34760807	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021991	chr6:37893949-38738720	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv885817	chr6:38036420-39019503	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	esv2758049	chr6:38588969-38711085	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	esv2759421	chr6:38588969-38711085	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv427754	chr6:38588969-38711085	Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
6	nsv428144	chr6:38588969-38711085	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
7	nsv830642	chr6:38645056-38800657	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:38679200-38681400	Weak transcription	GM12878-XiMat	blood
2	chr6:38679200-38681600	Weak transcription	Spleen	Spleen

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