Variant report

Variant	rs1389292
Chromosome Location	chr12:86627700-86627701
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:86626187..86628759-chr12:86629956..86631967,2	K562	blood:

Extended variants
information (count: 101 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs10776953	0.83[CEU][hapmap]
rs10776954	0.84[CEU][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10776958	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10776960	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10776967	0.87[EUR][1000 genomes]
rs10858411	0.94[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10858412	0.83[CEU][hapmap]
rs10858417	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10858420	0.89[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10858424	1.00[CHB][hapmap]
rs1097997	0.89[CEU][hapmap];1.00[CHB][hapmap]
rs11103946	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11117189	1.00[CHB][hapmap]
rs1389294	0.83[CEU][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1389295	0.85[EUR][1000 genomes]
rs1463750	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs1493408	0.84[CEU][hapmap]
rs1493413	0.82[EUR][1000 genomes]
rs1493414	0.94[CEU][hapmap];1.00[CHB][hapmap];0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1493417	0.83[CEU][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1493418	0.84[CEU][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1493419	0.89[CEU][hapmap]
rs1493420	0.84[CEU][hapmap];0.81[AMR][1000 genomes]
rs1532263	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1628799	1.00[CEU][hapmap]
rs1689364	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs1698757	1.00[CHB][hapmap]
rs1994863	0.93[EUR][1000 genomes]
rs2250915	0.80[CEU][hapmap];0.81[AMR][1000 genomes]
rs2405934	0.83[CEU][hapmap]
rs2406120	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2406121	0.81[EUR][1000 genomes]
rs2406128	0.84[CEU][hapmap]
rs2452803	0.83[CEU][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2452805	0.83[CEU][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2452808	0.94[CEU][hapmap];1.00[CHB][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2465142	0.85[EUR][1000 genomes]
rs2465145	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2465148	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2471561	0.81[CEU][hapmap];0.82[AMR][1000 genomes]
rs2471562	0.85[CEU][hapmap];0.81[AMR][1000 genomes]
rs2471563	0.81[CEU][hapmap];0.82[AMR][1000 genomes]
rs2471565	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs2471567	0.85[EUR][1000 genomes]
rs2897269	0.83[CEU][hapmap];1.00[CHB][hapmap]
rs2897273	1.00[CHB][hapmap]
rs4329741	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6538021	0.89[CEU][hapmap];1.00[ASN][1000 genomes]
rs6538023	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs6538027	0.94[CEU][hapmap];1.00[CHB][hapmap]
rs7134944	0.88[CEU][hapmap];1.00[CHB][hapmap]
rs7303642	0.81[EUR][1000 genomes]
rs7309839	0.83[CEU][hapmap];1.00[CHB][hapmap]
rs7312245	0.94[CEU][hapmap];1.00[CHB][hapmap]
rs7953494	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7954833	0.88[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7966656	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7972185	0.88[CEU][hapmap]
rs7975314	0.82[CEU][hapmap];1.00[CHB][hapmap]
rs839094	1.00[ASN][1000 genomes]
rs839099	0.90[CEU][hapmap];1.00[CHB][hapmap]
rs839100	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs839106	0.85[CEU][hapmap];1.00[CHB][hapmap]
rs839107	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs839109	0.90[CEU][hapmap];1.00[CHB][hapmap]
rs839112	0.89[CEU][hapmap];1.00[ASN][1000 genomes]
rs839113	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs839114	0.89[CEU][hapmap];1.00[CHB][hapmap]
rs839115	1.00[CHB][hapmap]
rs839116	0.89[CEU][hapmap];1.00[CHB][hapmap]
rs839117	0.90[CEU][hapmap]
rs839119	1.00[CHB][hapmap]
rs839120	1.00[CHB][hapmap]
rs839124	1.00[CHB][hapmap]
rs839128	1.00[CHB][hapmap]
rs839134	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs839138	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs839139	0.90[CEU][hapmap];1.00[CHB][hapmap]
rs839147	0.89[CEU][hapmap];1.00[CHB][hapmap]
rs839162	0.94[CEU][hapmap]
rs839166	0.85[CEU][hapmap]
rs839183	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs839185	1.00[ASN][1000 genomes]
rs839186	1.00[ASN][1000 genomes]
rs839188	1.00[ASN][1000 genomes]
rs839189	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs839191	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs844433	1.00[CEU][hapmap]
rs844434	0.85[CEU][hapmap]
rs844437	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs858213	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs866893	1.00[CHB][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049179	chr12:86056376-86799188	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv2761759	chr12:86415936-86747726	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv518059	chr12:86416212-86747726	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1041397	chr12:86438607-86737558	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1053087	chr12:86569126-86733418	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv541564	chr12:86569126-86733418	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv1037003	chr12:86610040-86798121	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1045386	chr12:86616015-86733418	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv541565	chr12:86616015-86733418	Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:86624600-86627800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr12:86625800-86628000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr12:86626000-86628200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:86626400-86629000	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr12:86627000-86627800	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr12:86627200-86628200	Weak transcription	Fetal Brain Female	brain
7	chr12:86627200-86628600	Weak transcription	Brain Germinal Matrix	brain
8	chr12:86627400-86628400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr12:86627400-86629200	Weak transcription	Fetal Heart	heart
10	chr12:86627600-86628200	Weak transcription	HUES48 Cell Line	embryonic stem cell

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