Variant report

Variant	rs7563646
Chromosome Location	chr2:128143925-128143926
allele	G/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	FOS	chr2:128143801-128144190	MCF10A-Er-Src	breast:	n/a	chr2:128143860-128143867
2	CHD1	chr2:128143649-128147067	IMR90	lung:	n/a	chr2:128145167-128145177
3	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
4	STAT3	chr2:128143904-128144202	MCF10A-Er-Src	breast:	n/a	n/a
5	CEBPB	chr2:128143891-128144102	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
6	MYC	chr2:128143857-128144233	MCF10A-Er-Src	breast:	n/a	n/a
7	E2F4	chr2:128143902-128144154	MCF10A-Er-Src	breast:	n/a	n/a
8	EP300	chr2:128143846-128144172	Hela-S3	cervix:	n/a	chr2:128143994-128144008
9	FOS	chr2:128143839-128144233	MCF10A-Er-Src	breast:	n/a	chr2:128143860-128143867
10	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
11	POLR2A	chr2:128143916-128143981	MCF10A-Er-Src	breast:	n/a	n/a
12	CEBPB	chr2:128143856-128144182	K562	blood:	n/a	chr2:128144045-128144056 chr2:128144046-128144057 chr2:128143993-128144006 chr2:128143993-128144004 chr2:128143993-128144006 chr2:128144045-128144056 chr2:128144045-128144058
13	CEBPB	chr2:128143837-128144209	IMR90	lung:	n/a	chr2:128144045-128144056 chr2:128144046-128144057 chr2:128143993-128144006 chr2:128143993-128144004 chr2:128143993-128144006 chr2:128144045-128144056 chr2:128144045-128144058
14	FOS	chr2:128143868-128144147	MCF10A-Er-Src	breast:	n/a	n/a
15	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
16	MXI1	chr2:128142981-128146528	SK-N-SH	brain:	n/a	chr2:128145893-128145902
17	ARID3A	chr2:128143833-128144189	HepG2	liver:	n/a	n/a
18	SMC3	chr2:128143891-128144171	HepG2	liver:	n/a	n/a
19	POLR2A	chr2:128143894-128146570	MCF10A-Er-Src	breast:	n/a	n/a
20	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
21	RAD21	chr2:128143826-128144183	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr2:128143818-128146726	IMR90	lung:	n/a	n/a
23	FOS	chr2:128143857-128144207	MCF10A-Er-Src	breast:	n/a	chr2:128143860-128143867
24	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
25	FOXA2	chr2:128143917-128144140	HepG2	liver:	n/a	n/a
26	CEBPB	chr2:128143850-128144209	MCF-7	breast:	n/a	chr2:128144045-128144056 chr2:128144046-128144057 chr2:128143993-128144006 chr2:128143993-128144004 chr2:128143993-128144006 chr2:128144045-128144056 chr2:128144045-128144058
27	STAT3	chr2:128143917-128144152	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:128100303..128102941-chr2:128143349..128145550,2	MCF-7	breast:
2	chr2:128142847..128144835-chr2:128235432..128237017,2	MCF-7	breast:
3	chr2:128143823..128146469-chr2:128456940..128459025,2	MCF-7	breast:
4	chr2:128142398..128144067-chr2:128144451..128146296,2	MCF-7	breast:
5	chr2:128143841..128146885-chr2:128179410..128184717,5	MCF-7	breast:
6	chr2:128123227..128125802-chr2:128143081..128145387,2	MCF-7	breast:

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

Extended variants
information (count: 1 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:128123400-128144200	Weak transcription	Colonic Mucosa	Colon
2	chr2:128128000-128144000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr2:128128000-128144000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr2:128132800-128144000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:128134400-128144000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr2:128134600-128144200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr2:128134600-128144400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:128134600-128144400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr2:128135400-128144000	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr2:128137600-128144000	Weak transcription	Brain Angular Gyrus	brain
11	chr2:128138200-128144000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr2:128139400-128144400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:128139600-128144000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr2:128139600-128144200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr2:128140800-128144000	Weak transcription	Brain Substantia Nigra	brain
16	chr2:128140800-128144000	Weak transcription	Right Ventricle	heart
17	chr2:128140800-128144000	Weak transcription	HSMM	muscle
18	chr2:128140800-128144400	Weak transcription	Aorta	Aorta
19	chr2:128140800-128144400	Weak transcription	Fetal Muscle Trunk	muscle
20	chr2:128140800-128144400	Weak transcription	Lung	lung
21	chr2:128140800-128144400	Weak transcription	Spleen	Spleen
22	chr2:128142000-128144400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr2:128142200-128144000	Enhancers	Primary B cells from peripheral blood	blood
24	chr2:128142200-128144000	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr2:128142200-128144000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr2:128142200-128144400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr2:128142400-128144000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr2:128142400-128144000	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr2:128142400-128144200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr2:128142400-128144200	Enhancers	Adipose Nuclei	Adipose
31	chr2:128142400-128144800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr2:128142600-128144000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr2:128142600-128144000	Weak transcription	Ovary	ovary
34	chr2:128142600-128144000	Weak transcription	Thymus	Thymus
35	chr2:128142600-128144200	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr2:128142600-128144400	Enhancers	Fetal Intestine Small	intestine
37	chr2:128142600-128144400	Weak transcription	Gastric	stomach
38	chr2:128142600-128144400	Weak transcription	Left Ventricle	heart
39	chr2:128142600-128144400	Weak transcription	Pancreas	Pancrea
40	chr2:128142600-128144400	Enhancers	Placenta Amnion	Placenta Amnion
41	chr2:128142600-128144400	Active TSS	Skeletal Muscle Female	skeletal muscle
42	chr2:128142600-128144400	Weak transcription	Small Intestine	intestine
43	chr2:128142600-128144600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr2:128142800-128144000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr2:128142800-128144200	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr2:128142800-128144200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr2:128142800-128144400	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr2:128142800-128144800	Flanking Active TSS	Primary B cells from cord blood	blood
49	chr2:128143000-128144000	Flanking Active TSS	HepG2	liver
50	chr2:128143200-128144000	Enhancers	Brain Germinal Matrix	brain

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