Variant report

Variant	rs34634684
Chromosome Location	chr12:31060989-31060990
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11051136	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11051143	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12322523	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12828817	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs256700	1.00[ASN][1000 genomes]
rs2629426	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs33156	1.00[ASN][1000 genomes]
rs33159	1.00[ASN][1000 genomes]
rs33162	1.00[ASN][1000 genomes]
rs33166	1.00[ASN][1000 genomes]
rs33167	1.00[ASN][1000 genomes]
rs33168	1.00[ASN][1000 genomes]
rs33169	1.00[ASN][1000 genomes]
rs33172	1.00[ASN][1000 genomes]
rs33175	1.00[ASN][1000 genomes]
rs33179	1.00[ASN][1000 genomes]
rs33207	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs33209	0.91[EUR][1000 genomes]
rs33210	0.94[EUR][1000 genomes]
rs33211	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs33214	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs33215	0.94[EUR][1000 genomes]
rs33216	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs33217	0.93[EUR][1000 genomes]
rs33218	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34352926	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34397838	0.92[EUR][1000 genomes]
rs35274629	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56203216	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs671606	1.00[ASN][1000 genomes]
rs67353217	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs675206	1.00[ASN][1000 genomes]
rs73284434	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949148	chr12:30800040-31131712	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	esv34091	chr12:30927650-31061815	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
3	nsv1052957	chr12:30951520-31191197	Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv541439	chr12:30951520-31191197	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv1052869	chr12:30951520-31399162	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	esv2422447	chr12:30954811-31449815	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
7	nsv832362	chr12:30957786-31124983	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv1053711	chr12:30959987-31156297	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv558030	chr12:30969675-31266287	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
10	nsv1041877	chr12:31009451-31809254	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
11	nsv541440	chr12:31009451-31809254	ZNF genes & repeats Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 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	chr12:31058600-31062800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr12:31058800-31061000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr12:31058800-31061200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr12:31058800-31061400	Weak transcription	Fetal Muscle Leg	muscle
5	chr12:31058800-31061600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr12:31058800-31061800	Weak transcription	Adipose Nuclei	Adipose
7	chr12:31058800-31062600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr12:31059000-31061200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr12:31059000-31061400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr12:31059000-31061600	Weak transcription	GM12878-XiMat	blood
11	chr12:31059000-31062600	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr12:31059000-31066200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr12:31059200-31061200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr12:31059200-31061200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr12:31059200-31061600	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr12:31059200-31061800	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr12:31059200-31061800	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr12:31059200-31062200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr12:31060800-31061400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr12:31060800-31062400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr12:31060800-31065000	Enhancers	Fetal Stomach	stomach

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