Variant report

Variant	rs529381108
Chromosome Location	chr12:66526085-66526086
allele	C/T
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	chr12:66525935-66526403	U87	brain:	n/a	n/a
2	POLR2A	chr12:66524161-66526647	ECC-1	luminal epithelium:	n/a	n/a
3	POLR2A	chr12:66526024-66526559	HCT-116	colon:	n/a	n/a
4	POLR2A	chr12:66523650-66526889	K562	blood:	n/a	n/a
5	POLR2A	chr12:66526067-66526659	SK-N-SH	brain:	n/a	n/a
6	STAT3	chr12:66526044-66526512	MCF10A-Er-Src	breast:	n/a	n/a
7	MEF2A	chr12:66526077-66526571	SK-N-SH	brain:	n/a	chr12:66526303-66526324 chr12:66526308-66526317 chr12:66526307-66526318 chr12:66526301-66526322 chr12:66526304-66526320 chr12:66526303-66526324 chr12:66526305-66526320
8	TEAD4	chr12:66526055-66526744	ECC-1	luminal epithelium:	n/a	n/a
9	JUND	chr12:66526025-66526715	SK-N-SH	brain:	n/a	n/a
10	POLR2A	chr12:66526070-66526471	IMR90	lung:	n/a	n/a
11	POLR2A	chr12:66525938-66526598	U87	brain:	n/a	n/a
12	POLR2A	chr12:66525935-66526584	U87	brain:	n/a	n/a
13	POLR2A	chr12:66525952-66526096	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr12:66525944-66526592	U87	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:66504685..66506522-chr12:66524649..66526191,2	K562	blood:
2	chr12:66523792..66527078-chr12:66561013..66565049,6	MCF-7	breast:
3	chr12:66512970..66515802-chr12:66525883..66527400,2	MCF-7	breast:
4	chr12:66523081..66526604-chr12:66560988..66564576,8	MCF-7	breast:
5	chr12:66523095..66527368-chr12:66532414..66535159,4	MCF-7	breast:
6	chr12:66524156..66526872-chr12:66529144..66534313,4	K562	blood:
7	chr12:66524217..66527472-chr12:66531631..66536698,7	K562	blood:
8	chr12:66521057..66526734-chr12:66560807..66565257,7	K562	blood:

Variant related genes	Relation type
LLPH	TF binding region
ENSG00000155957	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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	nsv1052503	chr12:66293898-67269495	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv541515	chr12:66293898-67269495	Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv1049537	chr12:66403269-66606174	Strong transcription Genic enhancers Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv899214	chr12:66516692-66556960	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	esv1009248	chr12:66525948-66530263	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:66523000-66526400	Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr12:66524000-66526200	Active TSS	Fetal Muscle Leg	muscle
3	chr12:66525000-66526200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr12:66525000-66526200	Flanking Active TSS	Dnd41	blood
5	chr12:66525000-66526600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr12:66525000-66526800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr12:66525000-66531200	Weak transcription	Lung	lung
8	chr12:66525000-66533200	Weak transcription	Gastric	stomach
9	chr12:66525200-66526200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr12:66525200-66526200	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr12:66525200-66530000	Weak transcription	Placenta	Placenta
12	chr12:66525200-66533200	Weak transcription	Esophagus	oesophagus
13	chr12:66525200-66533200	Weak transcription	Pancreas	Pancrea
14	chr12:66525200-66534400	Weak transcription	Small Intestine	intestine
15	chr12:66525400-66526200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr12:66525400-66526200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr12:66525400-66526200	Enhancers	Primary B cells from cord blood	blood
18	chr12:66525400-66526200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr12:66525400-66526200	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr12:66525400-66526200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr12:66525400-66526200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr12:66525400-66526200	Weak transcription	Fetal Stomach	stomach
23	chr12:66525400-66526200	Weak transcription	Left Ventricle	heart
24	chr12:66525400-66526200	Weak transcription	Psoas Muscle	Psoas
25	chr12:66525400-66526200	Weak transcription	HSMMtube	muscle
26	chr12:66525400-66526400	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr12:66525400-66526400	Enhancers	Fetal Lung	lung
28	chr12:66525400-66526600	Weak transcription	Right Atrium	heart
29	chr12:66525400-66526800	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr12:66525400-66526800	Enhancers	Muscle Satellite Cultured Cells	--
31	chr12:66525400-66526800	Enhancers	HSMM	muscle
32	chr12:66525400-66526800	Enhancers	Osteobl	bone
33	chr12:66525400-66527000	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr12:66525400-66527200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr12:66525400-66530000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr12:66525400-66530000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr12:66525400-66530000	Weak transcription	Brain Cingulate Gyrus	brain
38	chr12:66525400-66530000	Weak transcription	Brain Germinal Matrix	brain
39	chr12:66525400-66530000	Weak transcription	Fetal Intestine Large	intestine
40	chr12:66525400-66530000	Weak transcription	Fetal Kidney	kidney
41	chr12:66525400-66530000	Weak transcription	Fetal Muscle Trunk	muscle
42	chr12:66525400-66530200	Weak transcription	Ovary	ovary
43	chr12:66525400-66533200	Weak transcription	Stomach Smooth Muscle	stomach
44	chr12:66525400-66533200	Weak transcription	Spleen	Spleen
45	chr12:66525400-66533400	Weak transcription	Aorta	Aorta
46	chr12:66525400-66533400	Weak transcription	Fetal Brain Male	brain
47	chr12:66525400-66534400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr12:66525400-66562400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr12:66525600-66526200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
50	chr12:66525600-66526200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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