Variant report

Variant	rs7922067
Chromosome Location	chr10:94819606-94819607
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr10:94819586-94819622	H1-hESC	embryonic stem cell:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:94819559-94819609	GM12891	blood:	n/a
2	chr10:94819559-94819609	NH-A	brain:	n/a
3	chr10:94819559-94819609	AG04450	lung:	fetal
4	chr10:94819559-94819609	RPTEC	kidney:	n/a
5	chr10:94819559-94819609	A549	lung:	n/a
6	chr10:94819559-94819609	HepG2	liver:	n/a
7	chr10:94819559-94819609	NHDF-neo	bronchial:	n/a
8	chr10:94819559-94819609	Hepatocyte	liver:	n/a
9	chr10:94819559-94819609	T-47D	breast:	n/a
10	chr10:94819559-94819609	GM19239	blood:	n/a
11	chr10:94819559-94819609	CMK	blood:	n/a
12	chr10:94819559-94819609	BJ	skin:	n/a
13	chr10:94819559-94819609	GM06990	blood:	n/a
14	chr10:94819559-94819609	AG04449	skin:	fetal
15	chr10:94819559-94819609	HMEC	breast:	n/a
16	chr10:94819559-94819609	SK-N-SH_RA	brain:	n/a
17	chr10:94819559-94819609	HIPEpiC	eye:	n/a
18	chr10:94819559-94819609	GM12878	blood:	n/a
19	chr10:94819559-94819609	HCM	heart:	n/a
20	chr10:94819559-94819609	ProgFib	skin:	n/a
21	chr10:94819559-94819609	Jurkat	blood:	n/a
22	chr10:94819559-94819609	HCT-116	colon:	n/a
23	chr10:94819559-94819609	ECC-1	luminal epithelium:	n/a
24	chr10:94819559-94819609	SK-N-MC	brain:	n/a
25	chr10:94819559-94819609	HL-60	blood:	n/a
26	chr10:94819559-94819609	SKMC	muscle:	n/a
27	chr10:94819559-94819609	NT2-D1	testis:	n/a
28	chr10:94819559-94819609	U87	brain:	n/a
29	chr10:94819559-94819609	SAEC	small airway:	n/a
30	chr10:94819559-94819609	BE2_C	brain:	n/a
31	chr10:94819559-94819609	AG09319	gingival:	n/a
32	chr10:94819559-94819609	PANC-1	pancreas:	n/a
33	chr10:94819559-94819609	AG09309	skin:	n/a
34	chr10:94819559-94819609	H1-hESC	embryonic stem cell:	embryo
35	chr10:94819559-94819609	MCF-7	breast:	n/a
36	chr10:94819559-94819609	HRPEpiC	eye:	n/a
37	chr10:94819559-94819609	ovcar-3	ovarian:	n/a
38	chr10:94819559-94819609	HPAEpiC	pulmonary alveolar:	n/a
39	chr10:94819559-94819609	HRE	kidney:	n/a
40	chr10:94819559-94819609	Hela-S3	cervix:	n/a
41	chr10:94819559-94819609	NB4	blood:	n/a
42	chr10:94819559-94819609	SK-N-SH	brain:	n/a
43	chr10:94819559-94819609	HCF	heart:	n/a
44	chr10:94819559-94819609	HUVEC	blood vessel:	n/a
45	chr10:94819559-94819609	PFSK-1	brain:	n/a
46	chr10:94819559-94819609	K562	blood:	n/a
47	chr10:94819559-94819609	HEEpiC	esophagus:	n/a
48	chr10:94819559-94819609	HRCEpiC	kidney:	n/a
49	chr10:94819559-94819609	HNPCEpiC	eye:	n/a
50	chr10:94819559-94819609	HCPEpiC	choroid plexus:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:94747646..94749264-chr10:94816828..94819755,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MYOF-1	chr10:94819420-94819662	XLOC_008907
2	lnc-MYOF-1	chr10:94819523-94819649	NONHSAT015676

No data

Variant related genes	Relation type
CYP26C1	TF binding region
CYP26C1	CpG island

Extended variants
information (count: 26 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11187193	1.00[CHB][hapmap]
rs11187256	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11187262	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12263369	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1339821	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1409385	1.00[CHB][hapmap]
rs1409386	1.00[CHB][hapmap]
rs2297918	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2478236	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2478237	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2486681	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2486684	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4933244	1.00[CHB][hapmap]
rs55843714	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6583847	1.00[CHB][hapmap]
rs7081888	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs7904552	1.00[CHB][hapmap]
rs7906224	1.00[CHB][hapmap]
rs7923502	1.00[CHB][hapmap]
rs8211	0.82[ASW][hapmap];0.92[CEU][hapmap];0.89[GIH][hapmap];0.91[TSI][hapmap];0.92[EUR][1000 genomes]
rs835273	0.87[EUR][1000 genomes]
rs835276	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs835278	0.90[EUR][1000 genomes]
rs856534	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1802015	chr10:94811983-94839960	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv895899	chr10:94818382-94836435	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7922067	SLC16A12	cis	cerebellum	SCAN
rs7922067	PDLIM1	cis	cerebellum	SCAN
rs7922067	CYP2C9	cis	cerebellum	SCAN

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:94792600-94819800	Weak transcription	HSMMtube	muscle
2	chr10:94801800-94820200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr10:94804000-94819800	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr10:94804200-94821000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr10:94806200-94821000	Weak transcription	Gastric	stomach
6	chr10:94807800-94819800	Weak transcription	Duodenum Mucosa	Duodenum
7	chr10:94808000-94821000	Weak transcription	Pancreas	Pancrea
8	chr10:94811800-94825000	Weak transcription	HepG2	liver
9	chr10:94816200-94819800	Weak transcription	Placenta	Placenta
10	chr10:94816600-94820000	Strong transcription	HUVEC	blood vessel
11	chr10:94816600-94821200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr10:94817600-94821200	Strong transcription	Dnd41	blood
13	chr10:94818000-94822800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr10:94818400-94820000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr10:94818400-94821200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr10:94818400-94821200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr10:94818800-94820000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr10:94818800-94821000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
19	chr10:94818800-94821000	Weak transcription	A549	lung
20	chr10:94819000-94820000	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr10:94819200-94819800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr10:94819400-94819800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
23	chr10:94819400-94820000	Strong transcription	Pancreatic Islets	Pancreatic Islet
24	chr10:94819400-94820400	Bivalent Enhancer	Fetal Stomach	stomach
25	chr10:94819400-94820600	ZNF genes & repeats	Spleen	Spleen
26	chr10:94819400-94821600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
27	chr10:94819600-94819800	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr10:94819600-94819800	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
29	chr10:94819600-94820000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
30	chr10:94819600-94820000	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
31	chr10:94819600-94820000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
32	chr10:94819600-94820000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
33	chr10:94819600-94820000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
34	chr10:94819600-94820000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr10:94819600-94820000	Bivalent Enhancer	Right Ventricle	heart
36	chr10:94819600-94820400	Bivalent Enhancer	Fetal Heart	heart
37	chr10:94819600-94821200	ZNF genes & repeats	Lung	lung
38	chr10:94819600-94821400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
39	chr10:94819600-94821400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr10:94819600-94821800	Bivalent Enhancer	Fetal Muscle Leg	muscle
41	chr10:94819600-94822200	Bivalent Enhancer	Fetal Intestine Large	intestine
42	chr10:94819600-94823600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell

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