Variant report

Variant	rs564498441
Chromosome Location	chr12:105460745-105460746
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:105458598..105460587-chr12:105460604..105462776,2	K562	blood:

Variant related genes	Relation type
ENSG00000136010	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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	nsv899495	chr12:104990469-105527011	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv899498	chr12:105173598-105461620	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
3	nsv832505	chr12:105315352-105497765	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	esv1010041	chr12:105459777-105467603	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105409400-105465200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr12:105413000-105476800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:105420000-105477000	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr12:105431400-105461600	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr12:105435600-105467400	Weak transcription	Brain Substantia Nigra	brain
6	chr12:105441200-105477000	Weak transcription	Gastric	stomach
7	chr12:105442400-105469800	Weak transcription	Fetal Lung	lung
8	chr12:105443400-105465000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr12:105445800-105472800	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr12:105447000-105461600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr12:105447000-105464600	Weak transcription	Left Ventricle	heart
12	chr12:105447000-105468000	Weak transcription	K562	blood
13	chr12:105447000-105468600	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr12:105447200-105462000	Weak transcription	Colon Smooth Muscle	Colon
15	chr12:105447200-105466800	Weak transcription	Brain Angular Gyrus	brain
16	chr12:105447200-105477200	Weak transcription	Brain Hippocampus Middle	brain
17	chr12:105448200-105461400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr12:105448800-105461200	Strong transcription	Osteobl	bone
19	chr12:105449400-105476800	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr12:105450600-105461400	Strong transcription	HSMMtube	muscle
21	chr12:105450600-105461800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr12:105450800-105461400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr12:105450800-105468200	Weak transcription	Brain Anterior Caudate	brain
24	chr12:105451600-105461400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr12:105452000-105461200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr12:105452000-105464200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr12:105452000-105466200	Weak transcription	GM12878-XiMat	blood
28	chr12:105452200-105462000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr12:105453400-105476800	Weak transcription	Rectal Smooth Muscle	rectum
30	chr12:105454200-105476600	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr12:105455000-105461400	Weak transcription	Spleen	Spleen
32	chr12:105455600-105465200	Strong transcription	HMEC	breast
33	chr12:105455600-105467800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr12:105455600-105476400	Weak transcription	Fetal Brain Male	brain
35	chr12:105456000-105477000	Weak transcription	Brain Cingulate Gyrus	brain
36	chr12:105456400-105475000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr12:105456600-105463800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr12:105456600-105475200	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr12:105456800-105467400	Weak transcription	Fetal Stomach	stomach
40	chr12:105456800-105471200	Weak transcription	Pancreas	Pancrea
41	chr12:105456800-105476800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr12:105457800-105462200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr12:105458000-105460800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr12:105458000-105461200	Strong transcription	NH-A	brain
45	chr12:105458000-105464600	Strong transcription	NHLF	lung
46	chr12:105458200-105461200	Strong transcription	Muscle Satellite Cultured Cells	--
47	chr12:105458200-105461600	Strong transcription	HSMM	muscle
48	chr12:105458400-105461000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr12:105458800-105461200	Strong transcription	Fetal Muscle Leg	muscle
50	chr12:105459000-105467200	Weak transcription	Aorta	Aorta

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