Variant report

Variant	rs59216191
Chromosome Location	chr12:31062555-31062556
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs12581623	1.00[AFR][1000 genomes]
rs16906970	0.96[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1861921	1.00[AFR][1000 genomes]
rs2075363	1.00[AFR][1000 genomes]
rs2075364	1.00[AFR][1000 genomes]
rs2241322	1.00[AFR][1000 genomes]
rs2302846	1.00[AFR][1000 genomes]
rs2352618	1.00[AFR][1000 genomes]
rs33209	0.95[ASN][1000 genomes]
rs33210	0.95[ASN][1000 genomes]
rs33215	0.95[ASN][1000 genomes]
rs33217	0.95[ASN][1000 genomes]
rs34397838	0.93[ASN][1000 genomes]
rs4244855	1.00[AFR][1000 genomes]
rs4418893	1.00[AFR][1000 genomes]
rs4930948	1.00[AFR][1000 genomes]
rs4931415	1.00[AFR][1000 genomes]
rs4931416	1.00[AFR][1000 genomes]
rs56653968	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57385044	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58201849	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59369734	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs59729815	1.00[AFR][1000 genomes]
rs60101142	1.00[AFR][1000 genomes]
rs741504	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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:36 , 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	chr12:31058800-31062600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:31059000-31062600	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr12:31059000-31066200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr12:31060800-31065000	Enhancers	Fetal Stomach	stomach
6	chr12:31061000-31062600	Enhancers	Colon Smooth Muscle	Colon
7	chr12:31061000-31063200	Enhancers	Duodenum Smooth Muscle	Duodenum
8	chr12:31061200-31063200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:31061200-31063200	Enhancers	HepG2	liver
10	chr12:31061200-31063400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr12:31061200-31063400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr12:31061200-31063400	Enhancers	NHDF-Ad	bronchial
13	chr12:31061200-31064200	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr12:31061400-31063000	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr12:31061400-31063400	Enhancers	Fetal Lung	lung
16	chr12:31061400-31063400	Enhancers	Fetal Muscle Leg	muscle
17	chr12:31061400-31063400	Enhancers	Ovary	ovary
18	chr12:31061600-31062800	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr12:31061600-31063200	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr12:31061600-31063200	Enhancers	H1 Cell Line	embryonic stem cell
21	chr12:31061600-31063200	Enhancers	GM12878-XiMat	blood
22	chr12:31061600-31063400	Enhancers	H9 Cell Line	embryonic stem cell
23	chr12:31061600-31063400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr12:31061800-31063200	Enhancers	Rectal Smooth Muscle	rectum
25	chr12:31061800-31063200	Enhancers	Osteobl	bone
26	chr12:31061800-31063400	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr12:31061800-31063400	Enhancers	Adipose Nuclei	Adipose
28	chr12:31062000-31063200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr12:31062000-31063200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr12:31062000-31063200	Enhancers	Muscle Satellite Cultured Cells	--
31	chr12:31062200-31062800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr12:31062200-31064600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr12:31062400-31063000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr12:31062400-31063000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr12:31062400-31063000	Weak transcription	Fetal Muscle Trunk	muscle
36	chr12:31062400-31064000	Weak transcription	Cortex derived primary cultured neurospheres	brain

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