Variant report

Variant	rs143080619
Chromosome Location	chr2:74229090-74229091
allele	A/G
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	MXI1	chr2:74228178-74230662	IMR90	lung:	n/a	n/a
2	POLR2A	chr2:74228959-74229379	K562	blood:	n/a	n/a
3	RELA	chr2:74229077-74229897	GM18951	blood:	n/a	n/a
4	MXI1	chr2:74229002-74230685	SK-N-SH	brain:	n/a	n/a
5	MAZ	chr2:74228758-74231680	IMR90	lung:	n/a	chr2:74231558-74231567 chr2:74230835-74230844 chr2:74231317-74231327 chr2:74229735-74229745 chr2:74229706-74229716 chr2:74229611-74229621
6	REST	chr2:74229065-74230761	H1-neurons	neurons:	n/a	chr2:74229782-74229795 chr2:74229689-74229702 chr2:74229689-74229707 chr2:74229644-74229654
7	JUN	chr2:74228917-74231373	K562	blood:	n/a	chr2:74231145-74231157 chr2:74230978-74230987 chr2:74229709-74229718
8	STAT5A	chr2:74228911-74229483	GM12878	blood:	n/a	n/a
9	ZBTB7A	chr2:74228790-74229107	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:74227509..74230131-chr2:74424857..74427331,4	MCF-7	breast:
2	chr2:74227214..74229329-chr2:74244433..74246897,2	K562	blood:
3	chr2:74153966..74155499-chr2:74229025..74232283,3	K562	blood:
4	chr2:74227468..74229424-chr2:74305762..74308272,2	K562	blood:
5	chr2:74054453..74058790-chr2:74226313..74230079,4	MCF-7	breast:
6	chr2:74156030..74157687-chr2:74228022..74229641,2	K562	blood:
7	chr2:74055799..74057566-chr2:74228295..74229864,2	MCF-7	breast:
8	chr2:74153007..74155466-chr2:74228011..74231907,5	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TET3-3	chr2:74228985-74229113	ucscGeneNc_uc002ske_2

Variant related genes	Relation type
TET3	TF binding region
ENSG00000124356	Chromatin interaction
ENSG00000114956	Chromatin interaction
ENSG00000065911	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	nsv1011177	chr2:74167343-74239905	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	esv3584956	chr2:74197109-74317135	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv818048	chr2:74225434-74313080	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	esv3436825	chr2:74228469-74231017	Enhancers Active TSS Flanking Active TSS Genic enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:74215800-74229200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr2:74216400-74229200	Weak transcription	Rectal Smooth Muscle	rectum
3	chr2:74220800-74229200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr2:74222600-74229200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr2:74222800-74229200	Enhancers	Primary T cells fromperipheralblood	blood
6	chr2:74224000-74229200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:74224000-74229200	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr2:74224000-74229400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:74224000-74230000	Enhancers	Fetal Brain Male	brain
10	chr2:74225400-74229200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr2:74225600-74229200	Enhancers	Brain Cingulate Gyrus	brain
12	chr2:74225800-74229200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
13	chr2:74226000-74229200	Weak transcription	Brain Substantia Nigra	brain
14	chr2:74226000-74229200	Enhancers	Placenta	Placenta
15	chr2:74226000-74229400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr2:74226000-74229400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr2:74226200-74229200	Enhancers	H1 Cell Line	embryonic stem cell
18	chr2:74226200-74229400	Enhancers	A549	lung
19	chr2:74226200-74232400	Weak transcription	Hela-S3	cervix
20	chr2:74226400-74229200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:74226400-74229200	Genic enhancers	Fetal Intestine Small	intestine
22	chr2:74226400-74229200	Enhancers	Rectal Mucosa Donor 29	rectum
23	chr2:74226400-74229200	Enhancers	K562	blood
24	chr2:74226400-74229400	Enhancers	Fetal Intestine Large	intestine
25	chr2:74226400-74229400	Enhancers	Lung	lung
26	chr2:74226600-74229200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr2:74226600-74229200	Enhancers	Fetal Lung	lung
28	chr2:74226600-74229400	Enhancers	Esophagus	oesophagus
29	chr2:74226600-74229600	Enhancers	NHEK	skin
30	chr2:74226600-74229800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr2:74226800-74229200	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr2:74226800-74229200	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr2:74226800-74229200	Enhancers	Fetal Muscle Leg	muscle
34	chr2:74226800-74229400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr2:74226800-74229400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr2:74226800-74229400	Enhancers	Fetal Muscle Trunk	muscle
37	chr2:74226800-74229400	Enhancers	Placenta Amnion	Placenta Amnion
38	chr2:74226800-74229400	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr2:74226800-74229400	Enhancers	Right Ventricle	heart
40	chr2:74226800-74229600	Enhancers	HMEC	breast
41	chr2:74226800-74229800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr2:74227000-74229200	Enhancers	Adipose Nuclei	Adipose
43	chr2:74227000-74229400	Enhancers	Fetal Thymus	thymus
44	chr2:74227000-74229400	Enhancers	NHLF	lung
45	chr2:74227000-74229600	Enhancers	Spleen	Spleen
46	chr2:74227200-74229200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
47	chr2:74227200-74229200	Enhancers	Muscle Satellite Cultured Cells	--
48	chr2:74227200-74229400	Enhancers	Left Ventricle	heart
49	chr2:74227200-74229400	Enhancers	Pancreas	Pancrea
50	chr2:74227200-74229600	Enhancers	Gastric	stomach

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