Variant report

Variant	rs192990586
Chromosome Location	chr2:128144219-128144220
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	CHD1	chr2:128143649-128147067	IMR90	lung:	n/a	chr2:128145167-128145177
2	CEBPB	chr2:128143828-128144235	HepG2	liver:	n/a	chr2:128144045-128144056 chr2:128144046-128144057 chr2:128143993-128144006 chr2:128143993-128144004 chr2:128143993-128144006 chr2:128144045-128144056 chr2:128144045-128144058
3	MYC	chr2:128143857-128144233	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr2:128143839-128144233	MCF10A-Er-Src	breast:	n/a	chr2:128143860-128143867
5	CEBPB	chr2:128143812-128144240	A549	lung:	n/a	chr2:128144045-128144056 chr2:128144046-128144057 chr2:128143993-128144006 chr2:128143993-128144004 chr2:128143993-128144006 chr2:128144045-128144056 chr2:128144045-128144058
6	MYC	chr2:128143933-128144327	MCF10A-Er-Src	breast:	n/a	n/a
7	MAZ	chr2:128144057-128146421	IMR90	lung:	n/a	chr2:128145890-128145905 chr2:128145892-128145902
8	CEBPB	chr2:128143732-128144329	A549	lung:	n/a	chr2:128144045-128144056 chr2:128144046-128144057 chr2:128143993-128144006 chr2:128143993-128144004 chr2:128143993-128144006 chr2:128144045-128144056 chr2:128144045-128144058 chr2:128144269-128144280
9	STAT3	chr2:128144117-128144317	MCF10A-Er-Src	breast:	n/a	n/a
10	MXI1	chr2:128142981-128146528	SK-N-SH	brain:	n/a	chr2:128145893-128145902
11	POLR2A	chr2:128143894-128146570	MCF10A-Er-Src	breast:	n/a	n/a
12	CEBPB	chr2:128143833-128144221	A549	lung:	n/a	chr2:128144045-128144056 chr2:128144046-128144057 chr2:128143993-128144006 chr2:128143993-128144004 chr2:128143993-128144006 chr2:128144045-128144056 chr2:128144045-128144058
13	POLR2A	chr2:128143818-128146726	IMR90	lung:	n/a	n/a
14	GATA1	chr2:128143985-128146140	PBDE	blood:	n/a	chr2:128145332-128145342 chr2:128146112-128146133 chr2:128146115-128146131 chr2:128146116-128146126
15	CEBPB	chr2:128143810-128145044	Hela-S3	cervix:	n/a	chr2:128144045-128144056 chr2:128144046-128144057 chr2:128143993-128144006 chr2:128143993-128144004 chr2:128143993-128144006 chr2:128144045-128144056 chr2:128144045-128144058 chr2:128144269-128144280

No.	Distal block	Cell Line	Cell type
1	chr2:128143986..128147167-chr2:128178825..128181533,4	MCF-7	breast:
2	chr2:128100303..128102941-chr2:128143349..128145550,2	MCF-7	breast:
3	chr2:120435826..120437483-chr2:128143933..128146415,2	MCF-7	breast:
4	chr2:128142847..128144835-chr2:128235432..128237017,2	MCF-7	breast:
5	chr2:128143823..128146469-chr2:128456940..128459025,2	MCF-7	breast:
6	chr2:128143841..128146885-chr2:128179410..128184717,5	MCF-7	breast:
7	chr2:128123227..128125802-chr2:128143081..128145387,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000236682	TF binding region
ENSG00000115718	Chromatin interaction
ENSG00000173349	Chromatin interaction
ENSG00000264075	Chromatin interaction
ENSG00000144120	Chromatin interaction
ENSG00000169967	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3346398	chr2:128143907-128146455	Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	esv3327412	chr2:128144082-128146880	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 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	chr2:128134600-128144400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:128134600-128144400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:128139400-128144400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:128140800-128144400	Weak transcription	Aorta	Aorta
5	chr2:128140800-128144400	Weak transcription	Fetal Muscle Trunk	muscle
6	chr2:128140800-128144400	Weak transcription	Lung	lung
7	chr2:128140800-128144400	Weak transcription	Spleen	Spleen
8	chr2:128142000-128144400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr2:128142200-128144400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr2:128142400-128144800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:128142600-128144400	Enhancers	Fetal Intestine Small	intestine
12	chr2:128142600-128144400	Weak transcription	Gastric	stomach
13	chr2:128142600-128144400	Weak transcription	Left Ventricle	heart
14	chr2:128142600-128144400	Weak transcription	Pancreas	Pancrea
15	chr2:128142600-128144400	Enhancers	Placenta Amnion	Placenta Amnion
16	chr2:128142600-128144400	Active TSS	Skeletal Muscle Female	skeletal muscle
17	chr2:128142600-128144400	Weak transcription	Small Intestine	intestine
18	chr2:128142600-128144600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr2:128142800-128144400	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr2:128142800-128144800	Flanking Active TSS	Primary B cells from cord blood	blood
21	chr2:128143200-128144400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr2:128143200-128144800	Flanking Active TSS	Primary T cells from cord blood	blood
23	chr2:128143200-128144800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
24	chr2:128143200-128144800	Flanking Active TSS	Dnd41	blood
25	chr2:128143200-128145000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
26	chr2:128143200-128146200	Active TSS	Psoas Muscle	Psoas
27	chr2:128143400-128144400	Active TSS	Primary monocytes fromperipheralblood	blood
28	chr2:128143400-128144400	Enhancers	Colon Smooth Muscle	Colon
29	chr2:128143400-128145800	Active TSS	Muscle Satellite Cultured Cells	--
30	chr2:128143400-128145800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr2:128143600-128144400	Enhancers	Fetal Brain Male	brain
32	chr2:128143600-128144600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr2:128143600-128144800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr2:128143600-128145800	Active TSS	Fetal Intestine Large	intestine
35	chr2:128143600-128145800	Active TSS	Rectal Mucosa Donor 29	rectum
36	chr2:128143600-128146000	Active TSS	HSMMtube	muscle
37	chr2:128143800-128144400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr2:128143800-128144400	Active TSS	Fetal Muscle Leg	muscle
39	chr2:128143800-128144600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr2:128143800-128144600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr2:128143800-128144600	Flanking Active TSS	Fetal Heart	heart
42	chr2:128143800-128144800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
43	chr2:128143800-128144800	Flanking Active TSS	Primary hematopoietic stem cells	blood
44	chr2:128143800-128144800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
45	chr2:128143800-128144800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
46	chr2:128143800-128144800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr2:128143800-128144800	Flanking Active TSS	HUVEC	blood vessel
48	chr2:128143800-128144800	Flanking Active TSS	NH-A	brain
49	chr2:128143800-128144800	Flanking Active TSS	Osteobl	bone
50	chr2:128143800-128145800	Active TSS	HUES6 Cell Line	embryonic stem cell

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