Variant report

Variant	rs35249679
Chromosome Location	chr12:62993154-62993155
allele	-/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr12:62993020-62993188	SH-SY5Y	brain:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:62992552..62995339-chr12:63185731..63187957,2	MCF-7	breast:
2	chr12:62989825..62992021-chr12:62992678..62994199,2	MCF-7	breast:
3	chr12:62991974..62994921-chr5:128794290..128796953,2	MCF-7	breast:
4	chr1:155099354..155102099-chr12:62992358..62995047,2	MCF-7	breast:
5	chr12:62974220..62976300-chr12:62991130..62993650,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000257354	TF binding region
MIRLET7I	TF binding region
ENSG00000169242	Chromatin interaction
ENSG00000145808	Chromatin interaction
ENSG00000249421	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530690	chr12:62678463-62999462	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv821671	chr12:62794304-63007964	Strong transcription ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
3	esv2558829	chr12:62992678-62994139	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:62917200-62995000	Weak transcription	Fetal Heart	heart
2	chr12:62928800-62995800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:62938000-62995400	Weak transcription	Stomach Mucosa	stomach
4	chr12:62950400-62995600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr12:62950600-62996200	Weak transcription	Small Intestine	intestine
6	chr12:62950800-62995000	Weak transcription	NHEK	skin
7	chr12:62951000-62995600	Weak transcription	Rectal Smooth Muscle	rectum
8	chr12:62951200-62995200	Weak transcription	Hela-S3	cervix
9	chr12:62951200-62995600	Weak transcription	HSMMtube	muscle
10	chr12:62951400-62995000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr12:62953400-62996000	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr12:62954800-62995600	Weak transcription	Brain Anterior Caudate	brain
13	chr12:62955200-62995200	Weak transcription	HepG2	liver
14	chr12:62955600-62995600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr12:62957000-62995600	Weak transcription	Fetal Brain Male	brain
16	chr12:62957200-62995600	Weak transcription	Brain Hippocampus Middle	brain
17	chr12:62959600-62995600	Weak transcription	NHLF	lung
18	chr12:62961200-62995600	Weak transcription	Brain Cingulate Gyrus	brain
19	chr12:62961400-62995600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr12:62961400-62995600	Weak transcription	Brain Germinal Matrix	brain
21	chr12:62961600-62995600	Weak transcription	Fetal Brain Female	brain
22	chr12:62961800-62995600	Weak transcription	Brain Substantia Nigra	brain
23	chr12:62962000-62995600	Weak transcription	HMEC	breast
24	chr12:62963200-62995600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr12:62964000-62995800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr12:62966200-62995600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr12:62966200-62995600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr12:62966400-62995600	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr12:62966400-62995600	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr12:62966600-62995600	Weak transcription	Thymus	Thymus
31	chr12:62966600-62996000	Weak transcription	Esophagus	oesophagus
32	chr12:62969000-62995600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr12:62969000-62996000	Weak transcription	Left Ventricle	heart
34	chr12:62969000-62996000	Weak transcription	Ovary	ovary
35	chr12:62970000-62995200	Weak transcription	Fetal Lung	lung
36	chr12:62977200-62993400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr12:62978200-62995600	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr12:62979200-62995600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr12:62980000-62993400	Weak transcription	GM12878-XiMat	blood
40	chr12:62980000-62993600	Weak transcription	K562	blood
41	chr12:62980000-62995600	Weak transcription	Primary T cells from cord blood	blood
42	chr12:62980000-62995600	Weak transcription	Duodenum Mucosa	Duodenum
43	chr12:62981000-62995200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr12:62981000-62995400	Weak transcription	Dnd41	blood
45	chr12:62981000-62995600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr12:62981600-62996000	Weak transcription	Aorta	Aorta
47	chr12:62982000-62995600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr12:62983000-62993200	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr12:62983000-62995600	Weak transcription	Fetal Thymus	thymus
50	chr12:62983200-62995600	Weak transcription	NH-A	brain

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