Variant report

Variant	rs13247068
Chromosome Location	chr7:4301190-4301191
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10487575	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.91[EUR][1000 genomes]
rs10951486	0.95[CEU][hapmap];1.00[CHB][hapmap];0.84[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12386762	0.92[EUR][1000 genomes]
rs12386764	0.82[ASW][hapmap];0.93[MEX][hapmap];0.90[TSI][hapmap];0.92[YRI][hapmap];0.84[EUR][1000 genomes]
rs12531029	0.84[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12701504	1.00[CHB][hapmap];0.84[EUR][1000 genomes]
rs12701516	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs13226493	1.00[ASW][hapmap];0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.86[MEX][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13228974	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs13229094	0.84[CEU][hapmap];0.82[GIH][hapmap];0.93[MEX][hapmap];0.97[TSI][hapmap];0.90[EUR][1000 genomes]
rs13231488	1.00[CHB][hapmap];0.91[EUR][1000 genomes]
rs13242033	0.93[EUR][1000 genomes]
rs28524994	0.82[EUR][1000 genomes]
rs34177767	0.84[EUR][1000 genomes]
rs34670163	0.84[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs34861141	0.85[EUR][1000 genomes]
rs35168770	0.85[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs35399365	0.84[EUR][1000 genomes]
rs35527356	0.84[EUR][1000 genomes]
rs35863749	0.94[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs35913974	0.86[EUR][1000 genomes]
rs4723519	0.84[EUR][1000 genomes]
rs4723528	0.85[EUR][1000 genomes]
rs4723539	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4723545	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56250749	0.88[EUR][1000 genomes]
rs67819850	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6946599	0.94[EUR][1000 genomes]
rs6966643	0.98[EUR][1000 genomes]
rs71527479	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7781965	0.95[CEU][hapmap];1.00[CHB][hapmap];0.93[EUR][1000 genomes]
rs929371	0.84[EUR][1000 genomes]
rs929372	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.91[EUR][1000 genomes]
rs929373	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.91[EUR][1000 genomes]
rs929374	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021650	chr7:3665232-4577439	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1029406	chr7:3860894-4477095	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv538685	chr7:3860894-4477095	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1026410	chr7:3869104-4383606	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv464274	chr7:3955516-4613607	Weak transcription Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv464275	chr7:3955516-4613607	Enhancers Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv464276	chr7:3955516-4613607	Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv464277	chr7:3955516-4613607	Enhancers Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv464278	chr7:3955516-4613607	Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv605939	chr7:3955516-4613607	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv917252	chr7:4017819-4374090	Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv527624	chr7:4027536-4424054	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	nsv869540	chr7:4063875-4302040	Enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	nsv949581	chr7:4166659-4485938	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	nsv1023367	chr7:4192258-4306053	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	nsv887344	chr7:4211696-4393478	Enhancers Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	nsv1030157	chr7:4272488-4311316	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	nsv1034970	chr7:4283468-4405875	Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
19	nsv538693	chr7:4283468-4405875	Bivalent Enhancer Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
20	nsv887346	chr7:4286597-4336477	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
21	nsv887347	chr7:4286597-4352417	Bivalent Enhancer Genic enhancers Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
22	nsv887348	chr7:4286597-4399050	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
23	nsv887349	chr7:4286597-4405907	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
24	nsv1025054	chr7:4287728-4401128	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
25	nsv1027592	chr7:4289322-4401128	Strong transcription ZNF genes & repeats Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
26	nsv1019780	chr7:4290999-4403382	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
27	nsv538694	chr7:4290999-4403382	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
28	nsv471260	chr7:4293524-4384233	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
29	nsv464279	chr7:4293524-4399743	Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
30	nsv605965	chr7:4293524-4399743	Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
31	nsv517675	chr7:4293524-4421616	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
32	nsv605966	chr7:4293976-4401148	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
33	nsv887350	chr7:4293976-4405907	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
34	nsv5623	chr7:4294905-4303875	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	n/a
35	nsv887351	chr7:4301190-4401148	Bivalent Enhancer Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
36	nsv887352	chr7:4301190-4402672	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
37	nsv887353	chr7:4301190-4405907	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs13247068	C7orf50	cis	cerebellum	SCAN
rs13247068	WIPI2	cis	cerebellum	SCAN

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:4285600-4301200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:4287600-4304200	Weak transcription	Gastric	stomach
3	chr7:4289200-4304000	Weak transcription	Pancreas	Pancrea
4	chr7:4291400-4304200	Weak transcription	Aorta	Aorta
5	chr7:4294800-4311800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr7:4298200-4307400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr7:4299400-4301400	Enhancers	Fetal Muscle Leg	muscle
8	chr7:4300400-4301600	Enhancers	Colon Smooth Muscle	Colon
9	chr7:4300600-4301200	Enhancers	Duodenum Smooth Muscle	Duodenum
10	chr7:4300600-4301200	Flanking Active TSS	Stomach Smooth Muscle	stomach
11	chr7:4300600-4301400	Enhancers	HSMMtube	muscle
12	chr7:4300600-4301600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr7:4300600-4301600	Enhancers	Ovary	ovary
14	chr7:4300600-4302000	Enhancers	Brain Germinal Matrix	brain
15	chr7:4300800-4301200	Enhancers	Fetal Stomach	stomach
16	chr7:4300800-4301400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr7:4300800-4301400	Enhancers	Colonic Mucosa	Colon
18	chr7:4300800-4301400	Enhancers	Fetal Intestine Large	intestine
19	chr7:4300800-4301600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr7:4300800-4301600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr7:4300800-4301600	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr7:4301000-4301400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr7:4301000-4301600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
24	chr7:4301000-4301600	Enhancers	Placenta Amnion	Placenta Amnion
25	chr7:4301000-4301600	Enhancers	Rectal Smooth Muscle	rectum
26	chr7:4301000-4301800	Enhancers	Fetal Lung	lung

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