Variant report

Variant	rs74082237
Chromosome Location	chr12:46795330-46795331
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:46660196..46664289-chr12:46793162..46796060,3	MCF-7	breast:
2	chr12:46794174..46798124-chr12:46799495..46805327,7	K562	blood:
3	chr12:46776484..46782223-chr12:46794471..46799373,6	MCF-7	breast:
4	chr12:46787652..46790315-chr12:46793888..46796934,3	K562	blood:
5	chr12:46793862..46797366-chr12:46798440..46803120,6	MCF-7	breast:
6	chr12:46759584..46762474-chr12:46794055..46796996,3	K562	blood:
7	chr12:46786302..46788286-chr12:46793724..46796369,2	MCF-7	breast:
8	chr12:46777436..46779263-chr12:46794752..46796422,2	K562	blood:
9	chr12:46775685..46777322-chr12:46793673..46795917,2	K562	blood:
10	chr12:46795170..46796773-chr12:46824331..46826710,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000257261	Chromatin interaction
ENSG00000111371	Chromatin interaction
ENSG00000257496	Chromatin interaction
ENSG00000134294	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs11183482	1.00[EUR][1000 genomes]
rs11183487	1.00[EUR][1000 genomes]
rs11830080	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11830086	1.00[AMR][1000 genomes]
rs11837634	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12299499	1.00[EUR][1000 genomes]
rs12317255	1.00[EUR][1000 genomes]
rs12320438	1.00[EUR][1000 genomes]
rs12321512	1.00[EUR][1000 genomes]
rs12321642	1.00[EUR][1000 genomes]
rs12322378	1.00[EUR][1000 genomes]
rs13377959	1.00[EUR][1000 genomes]
rs17096765	1.00[EUR][1000 genomes]
rs17096793	1.00[EUR][1000 genomes]
rs17096896	1.00[EUR][1000 genomes]
rs17096922	1.00[EUR][1000 genomes]
rs17096996	1.00[AMR][1000 genomes]
rs2085682	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2408578	1.00[AMR][1000 genomes]
rs34280632	1.00[EUR][1000 genomes]
rs35875247	1.00[EUR][1000 genomes]
rs36010856	1.00[EUR][1000 genomes]
rs55649919	1.00[AMR][1000 genomes]
rs55698768	1.00[AMR][1000 genomes]
rs56036156	1.00[EUR][1000 genomes]
rs56160202	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56196954	1.00[EUR][1000 genomes]
rs56314009	1.00[EUR][1000 genomes]
rs58460251	1.00[EUR][1000 genomes]
rs58890669	1.00[EUR][1000 genomes]
rs59451063	1.00[AMR][1000 genomes]
rs59608605	1.00[EUR][1000 genomes]
rs60325164	1.00[AMR][1000 genomes]
rs60565802	1.00[EUR][1000 genomes]
rs60878594	1.00[EUR][1000 genomes]
rs61351787	1.00[AMR][1000 genomes]
rs7136748	1.00[AMR][1000 genomes]
rs73290315	1.00[EUR][1000 genomes]
rs74081912	1.00[AMR][1000 genomes]
rs74082033	1.00[AMR][1000 genomes]
rs74082254	1.00[EUR][1000 genomes]
rs74082263	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74082274	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74082433	1.00[AMR][1000 genomes]
rs74083751	1.00[AMR][1000 genomes]
rs74083758	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74085404	1.00[AMR][1000 genomes]
rs74085421	1.00[AMR][1000 genomes]
rs74085432	1.00[AMR][1000 genomes]
rs74085442	1.00[AMR][1000 genomes]
rs7488027	1.00[EUR][1000 genomes]
rs7954314	1.00[EUR][1000 genomes]
rs7965618	1.00[EUR][1000 genomes]
rs7967889	1.00[EUR][1000 genomes]
rs7975472	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832398	chr12:46611692-46825530	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
2	esv1842882	chr12:46691487-47009428	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
3	nsv1049525	chr12:46721742-47264172	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
4	nsv541486	chr12:46721742-47264172	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
5	esv3429861	chr12:46762813-46988789	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	145 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46778800-46797200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr12:46779600-46802800	Weak transcription	Pancreas	Pancrea
3	chr12:46781600-46795400	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr12:46782800-46796600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr12:46783200-46795600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr12:46783200-46796200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr12:46783200-46796600	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr12:46783200-46796800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr12:46783400-46795400	Weak transcription	HSMM	muscle
10	chr12:46783400-46796200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr12:46785000-46796200	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr12:46785200-46796000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr12:46785600-46796600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr12:46785800-46796600	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr12:46786600-46796000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr12:46787000-46795400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr12:46787000-46798400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr12:46787400-46795600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr12:46787800-46798200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr12:46789200-46795400	Weak transcription	Fetal Brain Male	brain
21	chr12:46789600-46796800	Weak transcription	Primary hematopoietic stem cells	blood
22	chr12:46789800-46797600	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr12:46790000-46795600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr12:46790200-46796600	Weak transcription	Primary B cells from cord blood	blood
25	chr12:46791000-46795400	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr12:46791000-46796800	Weak transcription	Ovary	ovary
27	chr12:46791400-46795400	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr12:46791600-46795600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr12:46791800-46795400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr12:46793800-46795800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr12:46793800-46796800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr12:46793800-46801200	Enhancers	Dnd41	blood
33	chr12:46794200-46796400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr12:46794200-46796800	Enhancers	NH-A	brain
35	chr12:46794200-46798600	Enhancers	Thymus	Thymus
36	chr12:46794200-46798800	Enhancers	Fetal Thymus	thymus
37	chr12:46794200-46799000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr12:46794200-46799000	Enhancers	Osteobl	bone
39	chr12:46794200-46799600	Enhancers	Primary T cells from cord blood	blood
40	chr12:46794400-46795600	Weak transcription	HMEC	breast
41	chr12:46794400-46796200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr12:46794400-46796400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr12:46794400-46796800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr12:46794400-46797600	Enhancers	NHEK	skin
45	chr12:46794400-46797800	Enhancers	HepG2	liver
46	chr12:46794400-46798400	Enhancers	Muscle Satellite Cultured Cells	--
47	chr12:46794400-46798800	Enhancers	Colon Smooth Muscle	Colon
48	chr12:46794400-46798800	Enhancers	NHDF-Ad	bronchial
49	chr12:46794400-46799000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr12:46794400-46799000	Enhancers	HSMMtube	muscle

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