Variant report

Variant	rs3217811
Chromosome Location	chr12:4388324-4388325
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:4378383-4393977	GM12878	blood:	n/a	n/a
2	POLR2A	chr12:4385965-4389349	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr12:4385697-4406476	GM12892	blood:	n/a	n/a
4	POLR2A	chr12:4386676-4402492	PFSK-1	brain:	n/a	n/a
5	POLR2A	chr12:4386736-4388328	SK-N-MC	brain:	n/a	n/a
6	POLR2A	chr12:4377522-4393821	GM19099	blood:	n/a	n/a
7	POLR2A	chr12:4377442-4388337	GM12878	blood:	n/a	n/a
8	POLR2A	chr12:4384783-4393854	GM12878	blood:	n/a	n/a
9	POLR2A	chr12:4377597-4393888	GM12891	blood:	n/a	n/a
10	POLR2A	chr12:4385705-4388341	GM12892	blood:	n/a	n/a
11	POLR2A	chr12:4382739-4388391	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr12:4385780-4388389	GM12892	blood:	n/a	n/a
13	POLR2A	chr12:4385142-4388424	PFSK-1	brain:	n/a	n/a
14	POLR2A	chr12:4377513-4404672	GM12878	blood:	n/a	n/a
15	POLR2A	chr12:4386685-4388328	GM12891	blood:	n/a	n/a
16	POLR2A	chr12:4385126-4393865	K562	blood:	n/a	n/a

Variant related genes	Relation type
CCND2-AS2	TF binding region
CCND2-AS1	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs73247753	0.82[AFR][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	nsv530520	chr12:3726841-4601757	Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1050474	chr12:4226760-4389238	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv832317	chr12:4315298-4435615	Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv541360	chr12:4338851-4389238	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv541361	chr12:4362258-4413849	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4384400-4390600	Weak transcription	Gastric	stomach
2	chr12:4385000-4390000	Transcr. at gene 5' and 3'	Cortex derived primary cultured neurospheres	brain
3	chr12:4385200-4388400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr12:4385200-4390800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr12:4385200-4390800	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
6	chr12:4385200-4391000	Genic enhancers	Sigmoid Colon	Sigmoid Colon
7	chr12:4385400-4388800	Genic enhancers	Primary hematopoietic stem cells	blood
8	chr12:4385400-4400000	Transcr. at gene 5' and 3'	Fetal Brain Female	brain
9	chr12:4385400-4404400	Transcr. at gene 5' and 3'	Brain Germinal Matrix	brain
10	chr12:4385600-4389400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr12:4385600-4389600	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 29	rectum
12	chr12:4385600-4390000	Genic enhancers	HSMM	muscle
13	chr12:4385600-4390400	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr12:4385600-4390600	Genic enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:4385600-4390800	Genic enhancers	Colonic Mucosa	Colon
16	chr12:4385600-4390800	Genic enhancers	Fetal Lung	lung
17	chr12:4385600-4391000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr12:4385600-4391400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr12:4385600-4400600	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr12:4385800-4388400	Enhancers	Placenta	Placenta
21	chr12:4385800-4390400	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr12:4385800-4390600	Genic enhancers	Placenta Amnion	Placenta Amnion
23	chr12:4385800-4398400	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr12:4386000-4388600	Flanking Active TSS	Fetal Brain Male	brain
25	chr12:4386000-4390200	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr12:4386000-4393600	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr12:4386000-4400000	Genic enhancers	Fetal Stomach	stomach
28	chr12:4386000-4404600	Genic enhancers	Primary T cells fromperipheralblood	blood
29	chr12:4386200-4388600	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr12:4386200-4388600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
31	chr12:4386200-4389200	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr12:4386200-4389600	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
33	chr12:4386200-4389600	Genic enhancers	Duodenum Smooth Muscle	Duodenum
34	chr12:4386200-4390200	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr12:4386200-4390400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr12:4386200-4390800	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr12:4386200-4393200	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr12:4386200-4403000	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
39	chr12:4386200-4404200	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
40	chr12:4386200-4404800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
41	chr12:4386400-4389000	Genic enhancers	Rectal Smooth Muscle	rectum
42	chr12:4386400-4393800	Transcr. at gene 5' and 3'	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr12:4386600-4388400	Weak transcription	Fetal Kidney	kidney
44	chr12:4386600-4389200	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr12:4386600-4389600	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr12:4386600-4389800	Genic enhancers	NHEK	skin
47	chr12:4386600-4390200	Genic enhancers	Colon Smooth Muscle	Colon
48	chr12:4386600-4390600	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr12:4386600-4390800	Genic enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr12:4386600-4393200	Weak transcription	Brain Substantia Nigra	brain

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