Variant report

Variant	rs74061161
Chromosome Location	chr12:12417944-12417945
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:12413166..12415033-chr12:12416431..12418396,2	K562	blood:
2	chr12:12400936..12406172-chr12:12417674..12422348,4	K562	blood:
3	chr12:12390182..12397827-chr12:12417123..12421502,7	MCF-7	breast:
4	chr12:12410568..12413506-chr12:12416541..12418558,2	MCF-7	breast:
5	chr12:12243605..12245833-chr12:12417112..12419056,2	MCF-7	breast:
6	chr12:12399860..12402436-chr12:12417674..12420343,2	K562	blood:

Variant related genes	Relation type
ENSG00000070018	Chromatin interaction
ENSG00000270857	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10466849	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11834671	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12299540	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12304957	0.80[AMR][1000 genomes]
rs12317629	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12321417	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12422312	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12425946	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56087862	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74061128	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74061156	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949003	chr12:11938229-12618690	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers 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 miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	esv3427115	chr12:12262415-12432411	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv898806	chr12:12264471-12453808	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
4	nsv832332	chr12:12344027-12484966	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers 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

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12401200-12418000	Weak transcription	Brain Substantia Nigra	brain
2	chr12:12408400-12418200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr12:12415800-12418000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:12416600-12418000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr12:12416600-12418200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr12:12416600-12418200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr12:12416600-12418200	Flanking Active TSS	Liver	Liver
8	chr12:12416600-12418200	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr12:12416600-12418200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr12:12416800-12418000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr12:12416800-12418200	Flanking Active TSS	Fetal Brain Female	brain
12	chr12:12416800-12418400	Weak transcription	Fetal Muscle Trunk	muscle
13	chr12:12416800-12420600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr12:12416800-12420600	Active TSS	GM12878-XiMat	blood
15	chr12:12417000-12418400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr12:12417000-12418600	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr12:12417000-12419000	Flanking Active TSS	Hela-S3	cervix
18	chr12:12417200-12418000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr12:12417200-12418000	Enhancers	Muscle Satellite Cultured Cells	--
20	chr12:12417200-12418000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr12:12417200-12418000	Enhancers	Brain Anterior Caudate	brain
22	chr12:12417200-12418000	Flanking Active TSS	A549	lung
23	chr12:12417200-12418000	Flanking Active TSS	NHLF	lung
24	chr12:12417200-12418200	Enhancers	Primary hematopoietic stem cells	blood
25	chr12:12417200-12418200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr12:12417200-12418200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr12:12417200-12418400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr12:12417200-12418600	Active TSS	NHEK	skin
29	chr12:12417200-12418800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr12:12417200-12420600	Active TSS	iPS-20b Cell Line	embryonic stem cell
31	chr12:12417400-12418000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr12:12417400-12418000	Enhancers	Rectal Mucosa Donor 29	rectum
33	chr12:12417400-12418200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
34	chr12:12417400-12418200	Enhancers	Primary T helper naive cells from peripheral blood	blood
35	chr12:12417400-12418200	Enhancers	Brain Angular Gyrus	brain
36	chr12:12417400-12418200	Enhancers	Brain Hippocampus Middle	brain
37	chr12:12417400-12418200	Enhancers	Fetal Intestine Small	intestine
38	chr12:12417400-12418200	Enhancers	Rectal Smooth Muscle	rectum
39	chr12:12417400-12419000	Enhancers	Small Intestine	intestine
40	chr12:12417400-12419200	Active TSS	Brain Germinal Matrix	brain
41	chr12:12417400-12420600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr12:12417600-12418000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
43	chr12:12417600-12418000	Active TSS	Cortex derived primary cultured neurospheres	brain
44	chr12:12417600-12418000	Enhancers	Fetal Heart	heart
45	chr12:12417600-12418000	Flanking Active TSS	Fetal Kidney	kidney
46	chr12:12417600-12418000	Enhancers	Pancreatic Islets	Pancreatic Islet
47	chr12:12417600-12418000	Flanking Active TSS	HMEC	breast
48	chr12:12417600-12418200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
49	chr12:12417600-12418200	Enhancers	Primary T helper cells PMA-I stimulated	--
50	chr12:12417600-12418200	Flanking Active TSS	Duodenum Mucosa	Duodenum

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