Variant report

Variant	rs563325309
Chromosome Location	chr7:126988516-126988517
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr7:126987628-126988764	IMR90	lung:	n/a	n/a
2	RAD21	chr7:126987501-126988625	SK-N-SH	brain:	n/a	n/a
3	MXI1	chr7:126987369-126989289	SK-N-SH	brain:	n/a	n/a
4	CTCF	chr7:126987517-126988720	A549	lung:	n/a	n/a
5	CTCF	chr7:126987434-126988981	SK-N-SH	brain:	n/a	n/a
6	POLR2A	chr7:126988454-126988781	K562	blood:	n/a	n/a
7	POLR2A	chr7:126985052-127000124	K562	blood:	n/a	n/a
8	CTCF	chr7:126987554-126988697	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:126987125..126989269-chr7:127032034..127034121,3	K562	blood:
2	chr7:126894392..126896260-chr7:126987799..126989472,2	K562	blood:
3	chr7:126985549..126992875-chr7:127029251..127034121,12	K562	blood:
4	chr7:126986612..126990415-chr7:127030676..127033732,5	MCF-7	breast:
5	chr7:126987100..126989492-chr7:127030062..127031935,2	K562	blood:
6	chr7:126985770..126989525-chr7:127030949..127034199,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000224138	TF binding region
ENSG00000048405	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	nsv526043	chr7:126985158-126998210	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv3418280	chr7:126987216-126989064	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:126984400-127000800	Weak transcription	HSMMtube	muscle
2	chr7:126987000-126988600	Enhancers	Primary T killer memory cells from peripheral blood	blood
3	chr7:126987200-126988800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr7:126987200-126995400	Weak transcription	Dnd41	blood
5	chr7:126987600-126988600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr7:126987600-126988600	Enhancers	Colon Smooth Muscle	Colon
7	chr7:126987600-126988600	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr7:126987600-126988600	Enhancers	Fetal Lung	lung
9	chr7:126987600-126988800	Active TSS	GM12878-XiMat	blood
10	chr7:126987800-126988600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr7:126987800-127020600	Weak transcription	Spleen	Spleen
12	chr7:126988200-126988600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr7:126988200-127001000	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr7:126988400-126988600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr7:126988400-126988600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr7:126988400-126988600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
17	chr7:126988400-126988600	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr7:126988400-126988600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
19	chr7:126988400-126988600	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr7:126988400-126988600	Flanking Active TSS	A549	lung
21	chr7:126988400-126988800	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr7:126988400-126988800	Enhancers	HUVEC	blood vessel
23	chr7:126988400-126990800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr7:126988400-126991800	Weak transcription	HSMM	muscle
25	chr7:126988400-126993800	Weak transcription	Liver	Liver
26	chr7:126988400-126994600	Weak transcription	K562	blood
27	chr7:126988400-126995200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr7:126988400-126995200	Weak transcription	HMEC	breast
29	chr7:126988400-126995400	Weak transcription	Primary B cells from cord blood	blood
30	chr7:126988400-126995400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr7:126988400-126995600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr7:126988400-126996000	Weak transcription	NHDF-Ad	bronchial
33	chr7:126988400-126996800	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr7:126988400-126997000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr7:126988400-126997000	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr7:126988400-126997000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr7:126988400-126997000	Weak transcription	Osteobl	bone
38	chr7:126988400-126998800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr7:126988400-126998800	Weak transcription	Placenta	Placenta
40	chr7:126988400-126999200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr7:126988400-126999200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr7:126988400-126999800	Weak transcription	Primary T cells from cord blood	blood
43	chr7:126988400-127000000	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr7:126988400-127000000	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr7:126988400-127000000	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr7:126988400-127000200	Weak transcription	Adipose Nuclei	Adipose
47	chr7:126988400-127000400	Weak transcription	Hela-S3	cervix
48	chr7:126988400-127000600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr7:126988400-127000600	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr7:126988400-127000600	Weak transcription	Fetal Intestine Large	intestine

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