Variant report

Variant	rs9402287
Chromosome Location	chr6:131147919-131147920
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr6:131147408-131147921	HepG2	liver:	n/a	n/a
2	FOXA2	chr6:131147446-131148064	HepG2	liver:	n/a	n/a
3	POLR2A	chr6:131147370-131147923	HepG2	liver:	n/a	n/a
4	FOXA1	chr6:131147448-131147983	HepG2	liver:	n/a	n/a
5	ARID3A	chr6:131147911-131149430	HepG2	liver:	n/a	n/a
6	JUND	chr6:131147699-131147965	HepG2	liver:	n/a	n/a
7	HEY1	chr6:131147665-131147987	HepG2	liver:	n/a	n/a
8	FOXA1	chr6:131147389-131147971	HepG2	liver:	n/a	n/a
9	MYBL2	chr6:131146917-131149508	HepG2	liver:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:131147870-131147920	AG04449	skin:	fetal
2	chr6:131147870-131147920	LNCaP	prostate:	n/a
3	chr6:131147870-131147920	SKMC	muscle:	n/a
4	chr6:131147870-131147920	HRPEpiC	eye:	n/a
5	chr6:131147870-131147920	SK-N-MC	brain:	n/a
6	chr6:131147870-131147920	K562	blood:	n/a
7	chr6:131147870-131147920	PFSK-1	brain:	n/a
8	chr6:131147870-131147920	PrEC	prostate:	n/a
9	chr6:131147870-131147920	HPAEpiC	pulmonary alveolar:	n/a
10	chr6:131147870-131147920	ovcar-3	ovarian:	n/a
11	chr6:131147870-131147920	Hepatocyte	liver:	n/a
12	chr6:131147870-131147920	HEK293	kidney:	embryo
13	chr6:131147870-131147920	CMK	blood:	n/a
14	chr6:131147870-131147920	MCF-7	breast:	n/a
15	chr6:131147870-131147920	Jurkat	blood:	n/a
16	chr6:131147870-131147920	GM12878	blood:	n/a
17	chr6:131147870-131147920	AG09319	gingival:	n/a
18	chr6:131147870-131147920	NT2-D1	testis:	n/a
19	chr6:131147870-131147920	PANC-1	pancreas:	n/a
20	chr6:131147870-131147920	Hela-S3	cervix:	n/a
21	chr6:131147870-131147920	AG09309	skin:	n/a
22	chr6:131147870-131147920	NH-A	brain:	n/a
23	chr6:131147870-131147920	BE2_C	brain:	n/a
24	chr6:131147870-131147920	NHBE	bronchial:	n/a
25	chr6:131147870-131147920	AG10803	skin:	n/a
26	chr6:131147870-131147920	ProgFib	skin:	n/a
27	chr6:131147870-131147920	U87	brain:	n/a
28	chr6:131147870-131147920	HCT-116	colon:	n/a
29	chr6:131147870-131147920	AG04450	lung:	fetal
30	chr6:131147870-131147920	HUVEC	blood vessel:	n/a
31	chr6:131147870-131147920	GM12891	blood:	n/a
32	chr6:131147870-131147920	SAEC	small airway:	n/a
33	chr6:131147870-131147920	HCM	heart:	n/a
34	chr6:131147870-131147920	NB4	blood:	n/a
35	chr6:131147870-131147920	IMR90	lung:	fetal
36	chr6:131147870-131147920	GM12892	blood:	n/a
37	chr6:131147870-131147920	HRE	kidney:	n/a
38	chr6:131147870-131147920	BJ	skin:	n/a
39	chr6:131147870-131147920	HRCEpiC	kidney:	n/a
40	chr6:131147870-131147920	GM19239	blood:	n/a
41	chr6:131147870-131147920	HMEC	breast:	n/a
42	chr6:131147870-131147920	AoSMC	blood vessel:	n/a
43	chr6:131147870-131147920	RPTEC	kidney:	n/a
44	chr6:131147870-131147920	HCF	heart:	n/a
45	chr6:131147870-131147920	GM06990	blood:	n/a
46	chr6:131147870-131147920	HL-60	blood:	n/a
47	chr6:131147870-131147920	HCPEpiC	choroid plexus:	n/a
48	chr6:131147870-131147920	T-47D	breast:	n/a
49	chr6:131147870-131147920	NHDF-neo	bronchial:	n/a
50	chr6:131147870-131147920	HEEpiC	esophagus:	n/a

No data

Variant related genes	Relation type
SMLR1	TF binding region
SMLR1	CpG island

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10434884	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11760051	0.86[JPT][hapmap]
rs12195366	0.86[JPT][hapmap]
rs12196734	0.86[JPT][hapmap]
rs12197829	0.86[JPT][hapmap]
rs12210303	0.99[ASN][1000 genomes]
rs1582056	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28431013	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3734186	1.00[CHB][hapmap];0.91[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61228196	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6919007	0.80[CHB][hapmap]
rs6927264	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73631048	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9372981	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9375774	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9375775	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9375776	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9375785	0.81[JPT][hapmap]
rs9375787	0.86[JPT][hapmap]
rs9375788	0.86[JPT][hapmap]
rs9375789	0.86[JPT][hapmap]
rs9375790	0.86[JPT][hapmap]
rs9385562	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9385563	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9388851	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9388852	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9388855	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9398967	0.86[JPT][hapmap]
rs9402284	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9402285	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9402291	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9402306	0.86[JPT][hapmap]

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	nsv533971	chr6:130490694-131172051	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131132000-131159200	Weak transcription	HSMM	muscle
2	chr6:131132000-131173800	Weak transcription	HSMMtube	muscle
3	chr6:131136400-131174400	Weak transcription	Left Ventricle	heart
4	chr6:131145600-131148400	Weak transcription	Psoas Muscle	Psoas
5	chr6:131145800-131148000	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr6:131146200-131148000	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr6:131146400-131148000	Enhancers	H1 Cell Line	embryonic stem cell
8	chr6:131146400-131148000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:131146400-131148000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr6:131146400-131148000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr6:131146400-131148600	Weak transcription	Duodenum Mucosa	Duodenum
12	chr6:131146800-131148000	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr6:131147200-131148400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr6:131147200-131148400	Enhancers	Fetal Intestine Small	intestine
15	chr6:131147400-131148000	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr6:131147400-131148000	Enhancers	Fetal Intestine Large	intestine
17	chr6:131147600-131148400	Flanking Active TSS	HepG2	liver
18	chr6:131147600-131157800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr6:131147800-131148200	Flanking Active TSS	Liver	Liver
20	chr6:131147800-131149000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr6:131147800-131149400	Enhancers	Pancreas	Pancrea

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