Variant report

Variant	rs12301213
Chromosome Location	chr12:85304936-85304937
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:47779341..47780185-chr12:85304853..85305718,2	Hela-S3	cervix:
2	chr12:50222179..50223090-chr12:85304791..85305560,2	Hela-S3	cervix:
3	chr11:10315577..10316374-chr12:85304790..85305756,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000258057	Chromatin interaction
ENSG00000133812	Chromatin interaction
ENSG00000167566	Chromatin interaction
ENSG00000123473	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12297157	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12320882	1.00[EUR][1000 genomes]
rs7298996	1.00[EUR][1000 genomes]
rs7960317	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035863	chr12:84710250-85331290	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1035236	chr12:84790507-85350433	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv899376	chr12:85157346-85339254	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv899377	chr12:85157346-85629241	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv1040452	chr12:85179586-85747907	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	nsv899378	chr12:85219400-85315865	Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv455666	chr12:85224141-85330496	Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
8	nsv559645	chr12:85224141-85330496	Bivalent/Poised TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
9	nsv470309	chr12:85224141-85339254	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
10	nsv899380	chr12:85232076-85330496	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
11	nsv899381	chr12:85232076-85339254	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
12	nsv899382	chr12:85232076-85345154	Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
13	nsv559646	chr12:85233731-85330496	Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
14	nsv559647	chr12:85233731-85339254	Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
15	nsv899383	chr12:85233731-85339254	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
16	nsv899384	chr12:85233731-85345154	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
17	nsv455667	chr12:85249218-85339254	Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
18	nsv559648	chr12:85249218-85339254	Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
19	nsv899385	chr12:85249218-85339254	Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
20	nsv899386	chr12:85249218-85345154	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
21	nsv559649	chr12:85257445-85330496	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
22	nsv455668	chr12:85257445-85339254	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
23	nsv559650	chr12:85257445-85339254	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
24	nsv559651	chr12:85281528-85325952	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Active TSS ZNF genes & repeats Enhancers Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
25	esv1842303	chr12:85284828-85356954	Active TSS Flanking Bivalent TSS/Enh Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
26	nsv559652	chr12:85285222-85339254	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:85302600-85307000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr12:85303600-85305600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr12:85303600-85307200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:85303800-85305800	Active TSS	Fetal Brain Female	brain
5	chr12:85303800-85307000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr12:85304000-85305200	Flanking Active TSS	NHEK	skin
7	chr12:85304200-85305000	Flanking Active TSS	NH-A	brain
8	chr12:85304200-85305200	Active TSS	Brain Germinal Matrix	brain
9	chr12:85304200-85305400	Active TSS	Brain Substantia Nigra	brain
10	chr12:85304200-85305400	Active TSS	Osteobl	bone
11	chr12:85304200-85305800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr12:85304200-85306000	Active TSS	iPS-18 Cell Line	embryonic stem cell
13	chr12:85304200-85306200	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr12:85304200-85306200	Active TSS	Brain Cingulate Gyrus	brain
15	chr12:85304200-85306800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr12:85304200-85306800	Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr12:85304200-85306800	Active TSS	Muscle Satellite Cultured Cells	--
18	chr12:85304200-85307200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr12:85304200-85307200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
20	chr12:85304200-85307200	Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr12:85304200-85307200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr12:85304200-85307200	Bivalent/Poised TSS	Fetal Kidney	kidney
23	chr12:85304200-85307200	Active TSS	Hela-S3	cervix
24	chr12:85304200-85307200	Active TSS	NHDF-Ad	bronchial
25	chr12:85304200-85307400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:85304200-85307400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr12:85304200-85307400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr12:85304200-85307400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr12:85304200-85307400	Active TSS	Brain Angular Gyrus	brain
30	chr12:85304200-85307400	Active TSS	Brain Inferior Temporal Lobe	brain
31	chr12:85304200-85307600	Active TSS	ES-I3 Cell Line	embryonic stem cell
32	chr12:85304200-85307600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
33	chr12:85304400-85305000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr12:85304400-85305000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr12:85304400-85305000	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
36	chr12:85304400-85305000	Enhancers	Gastric	stomach
37	chr12:85304400-85305000	Enhancers	Pancreas	Pancrea
38	chr12:85304400-85305000	Flanking Active TSS	HMEC	breast
39	chr12:85304400-85305200	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
40	chr12:85304400-85305200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
41	chr12:85304400-85305200	Active TSS	Esophagus	oesophagus
42	chr12:85304400-85305200	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
43	chr12:85304400-85305600	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
44	chr12:85304400-85305600	Bivalent/Poised TSS	A549	lung
45	chr12:85304400-85305600	Active TSS	HSMM	muscle
46	chr12:85304400-85305800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr12:85304400-85305800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
48	chr12:85304400-85305800	Active TSS	NHLF	lung
49	chr12:85304400-85306000	Active TSS	HSMMtube	muscle
50	chr12:85304400-85306200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum

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