Variant report

Variant	rs61747565
Chromosome Location	chr12:32292930-32292931
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs17527955	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17585107	1.00[AFR][1000 genomes]
rs17585555	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17586170	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17587471	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs57927254	1.00[AFR][1000 genomes]
rs7952772	0.88[AMR][1000 genomes];0.91[EUR][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	esv3363806	chr12:31872264-32410283	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	esv3508621	chr12:31872654-32410593	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	esv3508622	chr12:31872654-32410593	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv976030	chr12:32153446-32307541	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv983498	chr12:32153446-32388092	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv898969	chr12:32224948-32375677	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv1042317	chr12:32228872-32316774	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv1041733	chr12:32247427-32312547	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv531960	chr12:32257285-32775277	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
10	esv2751096	chr12:32280340-32702784	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv558171	chr12:32287259-32559693	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32269000-32340200	Weak transcription	Dnd41	blood
2	chr12:32287600-32312200	Weak transcription	HSMMtube	muscle
3	chr12:32287800-32304000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:32287800-32328400	Weak transcription	Aorta	Aorta
5	chr12:32290000-32293400	Weak transcription	HepG2	liver
6	chr12:32292000-32293000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr12:32292000-32293200	Flanking Active TSS	Primary hematopoietic stem cells	blood
8	chr12:32292000-32293200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
9	chr12:32292000-32293200	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr12:32292000-32293200	Active TSS	NHDF-Ad	bronchial
11	chr12:32292000-32293200	Active TSS	Osteobl	bone
12	chr12:32292000-32293400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr12:32292000-32293400	Active TSS	GM12878-XiMat	blood
14	chr12:32292000-32293600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr12:32292000-32293800	Active TSS	Primary T cells from cord blood	blood
16	chr12:32292000-32294000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr12:32292000-32294200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr12:32292000-32294200	Active TSS	Ovary	ovary
19	chr12:32292200-32293000	Active TSS	H1 Cell Line	embryonic stem cell
20	chr12:32292200-32293000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:32292200-32293000	Active TSS	Primary T helper cells PMA-I stimulated	--
22	chr12:32292200-32293000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr12:32292200-32293000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
24	chr12:32292200-32293000	Active TSS	Rectal Smooth Muscle	rectum
25	chr12:32292200-32293200	Flanking Active TSS	Primary B cells from peripheral blood	blood
26	chr12:32292200-32293200	Active TSS	Primary T helper naive cells from peripheral blood	blood
27	chr12:32292200-32293200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr12:32292200-32293200	Active TSS	Duodenum Mucosa	Duodenum
29	chr12:32292200-32293200	Flanking Active TSS	Fetal Stomach	stomach
30	chr12:32292200-32293200	Flanking Active TSS	Fetal Thymus	thymus
31	chr12:32292200-32293200	Flanking Active TSS	Thymus	Thymus
32	chr12:32292200-32293200	Enhancers	NHEK	skin
33	chr12:32292200-32293200	Active TSS	NHLF	lung
34	chr12:32292200-32293800	Active TSS	Primary T cells fromperipheralblood	blood
35	chr12:32292200-32293800	Active TSS	Brain Angular Gyrus	brain
36	chr12:32292200-32293800	Active TSS	Brain Substantia Nigra	brain
37	chr12:32292200-32294000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
38	chr12:32292200-32294000	Active TSS	Right Atrium	heart
39	chr12:32292200-32294200	Active TSS	Brain Anterior Caudate	brain
40	chr12:32292200-32294200	Active TSS	Brain Cingulate Gyrus	brain
41	chr12:32292200-32294200	Flanking Active TSS	Fetal Brain Male	brain
42	chr12:32292200-32312200	Weak transcription	HSMM	muscle
43	chr12:32292400-32293000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr12:32292400-32293000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr12:32292400-32293000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr12:32292400-32293000	Active TSS	HUES48 Cell Line	embryonic stem cell
47	chr12:32292400-32293000	Active TSS	HUES64 Cell Line	embryonic stem cell
48	chr12:32292400-32293000	Active TSS	iPS-15b Cell Line	embryonic stem cell
49	chr12:32292400-32293000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr12:32292400-32293000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell

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