Variant report

Variant	rs11766744
Chromosome Location	chr7:101138286-101138287
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11761608	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11771275	0.85[ASN][1000 genomes]
rs11772334	1.00[CHB][hapmap];0.87[CHD][hapmap];0.87[GIH][hapmap];0.85[ASN][1000 genomes]
rs11773600	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12531666	1.00[CHB][hapmap];0.81[CHD][hapmap];0.86[GIH][hapmap];0.87[ASN][1000 genomes]
rs12537163	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs12538381	0.92[ASW][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.80[LWK][hapmap];0.82[MKK][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs13223538	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];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1476652	0.82[CHB][hapmap]
rs1476654	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs1558011	0.85[CHB][hapmap]
rs17135512	1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.81[MKK][hapmap];1.00[ASN][1000 genomes]
rs17135557	1.00[CHB][hapmap];0.81[CHD][hapmap];0.87[GIH][hapmap];0.85[ASN][1000 genomes]
rs17135583	0.81[GIH][hapmap]
rs34215350	0.81[ASN][1000 genomes]
rs34707022	0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs34942414	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35029113	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs35422294	0.96[ASN][1000 genomes]
rs35625019	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs35644513	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35905227	0.83[ASN][1000 genomes]
rs6953259	0.92[ASN][1000 genomes]
rs6970490	0.96[ASN][1000 genomes]
rs73180860	0.81[ASN][1000 genomes]
rs7803909	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs877702	0.81[ASN][1000 genomes]
rs9969330	0.85[CHB][hapmap]
rs9969331	0.85[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933653	chr7:100701931-101515782	Active TSS ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv1030604	chr7:100717732-101223465	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
3	nsv429788	chr7:100799565-101178565	Weak transcription Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	esv2752134	chr7:100800131-101141867	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
5	esv2752136	chr7:100932330-101143259	Genic enhancers Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv517175	chr7:100960550-101138286	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv1023475	chr7:100967086-101143259	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv1026144	chr7:100968363-101146836	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv1017707	chr7:100968363-101156017	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv1020456	chr7:100968363-101156056	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv464660	chr7:100968363-101171028	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv607981	chr7:100968363-101171028	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	nsv1026130	chr7:100970915-101141971	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
14	nsv1021187	chr7:100993420-101178831	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
15	nsv888821	chr7:101091470-101311540	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
16	nsv831078	chr7:101094945-101257486	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
17	nsv888822	chr7:101105017-101330734	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
18	nsv888823	chr7:101109073-101174965	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
19	nsv888824	chr7:101109073-101330734	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
20	nsv1025029	chr7:101120515-101156998	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs11766744	GATS	cis	parietal	SCAN
rs11766744	BUD31	cis	cerebellum	SCAN
rs11766744	ZNF655	cis	parietal	SCAN
rs11766744	ARMC10	cis	cerebellum	SCAN

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101126800-101165000	Weak transcription	Right Atrium	heart
2	chr7:101136200-101138600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:101136600-101138600	Enhancers	H1 Cell Line	embryonic stem cell
4	chr7:101136600-101138600	Enhancers	Fetal Muscle Leg	muscle
5	chr7:101137200-101138400	Enhancers	H9 Cell Line	embryonic stem cell
6	chr7:101137400-101138400	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr7:101137400-101138800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
8	chr7:101137600-101138400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:101137600-101138400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr7:101137600-101138600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr7:101137600-101138600	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr7:101137800-101138400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr7:101137800-101138400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr7:101137800-101138400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr7:101137800-101138400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr7:101137800-101138400	Enhancers	Fetal Brain Female	brain
17	chr7:101137800-101138400	Bivalent Enhancer	Fetal Stomach	stomach
18	chr7:101137800-101138600	Enhancers	Fetal Kidney	kidney
19	chr7:101137800-101139200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr7:101138000-101138400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr7:101138000-101138400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr7:101138000-101138400	Enhancers	Fetal Thymus	thymus
23	chr7:101138200-101138400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr7:101138200-101138400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
25	chr7:101138200-101138400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr7:101138200-101139400	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr7:101138200-101145800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr7:101138200-101146000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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