Variant report

Variant	rs1123137
Chromosome Location	chr12:7847060-7847061
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs1965646	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs3861094	0.94[AMR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv468993	chr12:7774028-7884351	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv557273	chr12:7774028-7884351	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv2422373	chr12:7774520-8070089	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv1048545	chr12:7778760-8608231	Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
5	nsv541368	chr12:7778760-8608231	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
6	nsv1041213	chr12:7790477-7874346	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
7	nsv1053321	chr12:7804807-8118176	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv541369	chr12:7804807-8118176	Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
9	nsv1052885	chr12:7805007-8118037	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
10	nsv541370	chr12:7805007-8118037	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
11	esv2422371	chr12:7823424-8033683	Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
12	nsv557274	chr12:7826305-7864976	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	esv2422336	chr12:7832566-8052196	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
14	esv2422200	chr12:7832566-8106817	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
15	esv2422393	chr12:7835566-7987590	Bivalent Enhancer Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:7834600-7847200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr12:7835200-7847400	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr12:7846000-7848800	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr12:7846000-7848800	Enhancers	Primary hematopoietic stem cells	blood
5	chr12:7846200-7847400	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr12:7846200-7847600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr12:7846200-7847800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr12:7846200-7847800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr12:7846200-7847800	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr12:7846200-7848000	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr12:7846200-7848800	Enhancers	H1 Cell Line	embryonic stem cell
12	chr12:7846400-7847200	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr12:7846400-7847600	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr12:7846400-7848600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr12:7846600-7847800	Enhancers	HUVEC	blood vessel
16	chr12:7846600-7848000	Weak transcription	Duodenum Mucosa	Duodenum
17	chr12:7846600-7848400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr12:7846600-7848800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr12:7846800-7847400	Weak transcription	Adipose Nuclei	Adipose
20	chr12:7846800-7847600	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr12:7846800-7847600	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr12:7846800-7847600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr12:7847000-7847400	Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr12:7847000-7848000	Weak transcription	Spleen	Spleen

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