Variant report

Variant	rs568856827
Chromosome Location	chr7:116610625-116610626
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:32)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:32 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr7:116610610-116610926	MCF10A-Er-Src	breast:	n/a	n/a
2	SPI1	chr7:116610395-116610644	K562	blood:	n/a	n/a
3	EP300	chr7:116610522-116610813	GM12878	blood:	n/a	n/a
4	RUNX3	chr7:116610387-116611247	GM12878	blood:	n/a	n/a
5	IKZF1	chr7:116610314-116610954	GM12878	blood:	n/a	n/a
6	MEF2A	chr7:116610424-116611086	GM12878	blood:	n/a	chr7:116610805-116610820
7	POLR2A	chr7:116610353-116610862	GM12878	blood:	n/a	n/a
8	MEF2C	chr7:116610480-116611053	GM12878	blood:	n/a	n/a
9	SPI1	chr7:116610392-116610706	GM12891	blood:	n/a	n/a
10	POLR2A	chr7:116610410-116610803	GM12878	blood:	n/a	n/a
11	SPI1	chr7:116610123-116610710	HL-60	blood:	n/a	n/a
12	ATF2	chr7:116610493-116611042	GM12878	blood:	n/a	n/a
13	FOS	chr7:116610619-116610882	MCF10A-Er-Src	breast:	n/a	n/a
14	ELF1	chr7:116610360-116610737	K562	blood:	n/a	chr7:116610527-116610540
15	SPI1	chr7:116610405-116610691	GM12878	blood:	n/a	n/a
16	TBL1XR1	chr7:116610580-116610697	K562	blood:	n/a	n/a
17	BCL11A	chr7:116610509-116610842	GM12878	blood:	n/a	n/a
18	STAT1	chr7:116610602-116610771	GM12878	blood:	n/a	n/a
19	NFIC	chr7:116610333-116611215	GM12878	blood:	n/a	n/a
20	TBL1XR1	chr7:116610542-116611104	GM12878	blood:	n/a	n/a
21	FOXM1	chr7:116610457-116611057	GM12878	blood:	n/a	n/a
22	MTA3	chr7:116610199-116611037	GM12878	blood:	n/a	n/a
23	NFIC	chr7:116610219-116611348	GM12878	blood:	n/a	n/a
24	JUND	chr7:116610568-116610887	K562	blood:	n/a	n/a
25	ATF2	chr7:116610509-116610918	GM12878	blood:	n/a	n/a
26	STAT3	chr7:116610595-116610842	GM12878	blood:	n/a	n/a
27	BATF	chr7:116610564-116610923	GM12878	blood:	n/a	n/a
28	MEF2A	chr7:116610531-116611052	K562	blood:	n/a	chr7:116610805-116610820
29	CUX1	chr7:116610556-116611043	GM12878	blood:	n/a	n/a
30	RUNX3	chr7:116610279-116611650	GM12878	blood:	n/a	n/a
31	EP300	chr7:116610575-116610905	GM12878	blood:	n/a	n/a
32	ZNF384	chr7:116610610-116610731	K562	blood:	n/a	n/a

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	7:116610596-116619447..7:116651084-116657331	H1-hESC	embryonic stem cell:	embryo
2	7:115847372-115857098..7:116610596-116619447	H1-hESC	embryonic stem cell:	embryo
3	7:116610596-116619447..7:117432820-117434816	H1-hESC	embryonic stem cell:	embryo
4	7:116610596-116619447..7:116849860-116864942	H1-hESC	embryonic stem cell:	embryo
5	chr7:116601473..116604004-chr7:116608166..116610648,2	K562	blood:
6	7:116434729-116454408..7:116610596-116619447	H1-hESC	embryonic stem cell:	embryo
7	chr7:116517701..116519651-chr7:116609886..116612746,2	K562	blood:
8	7:116610596-116619447..7:116754962-116765597	GM12878	blood:
9	chr7:116607594..116610667-chr7:116617183..116619569,3	MCF-7	breast:
10	chr7:116599684..116602391-chr7:116609129..116611076,2	MCF-7	breast:
11	chr7:116558517..116560603-chr7:116609318..116611727,2	K562	blood:
12	7:116610596-116619447..7:117114628-117119361	H1-hESC	embryonic stem cell:	embryo
13	7:115861595-115870968..7:116610596-116619447	GM12878	blood:
14	chr7:116608803..116612859-chr7:116615821..116619025,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000228368	TF binding region
ENSG00000077063	Chromatin interaction
ENSG00000198898	Chromatin interaction
ENSG00000001626	Chromatin interaction
ENSG00000135269	Chromatin interaction
ENSG00000004866	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	nsv831107	chr7:116414734-116649466	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv889073	chr7:116552859-116611113	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv981571	chr7:116608949-116617079	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:116595200-116621600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:116595600-116617200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr7:116596400-116616600	Weak transcription	Osteobl	bone
4	chr7:116596400-116622200	Weak transcription	Fetal Intestine Large	intestine
5	chr7:116596600-116612000	Weak transcription	Fetal Intestine Small	intestine
6	chr7:116596600-116617400	Weak transcription	Fetal Muscle Leg	muscle
7	chr7:116596800-116617200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr7:116597000-116641600	Weak transcription	Ovary	ovary
9	chr7:116598400-116617600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr7:116598800-116630400	Weak transcription	Aorta	Aorta
11	chr7:116599200-116611800	Weak transcription	Right Ventricle	heart
12	chr7:116600600-116613400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr7:116600600-116620200	Weak transcription	Lung	lung
14	chr7:116603400-116617800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr7:116606600-116611000	Enhancers	Fetal Heart	heart
16	chr7:116607600-116611800	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr7:116607600-116614000	Weak transcription	Brain Anterior Caudate	brain
18	chr7:116607600-116618000	Weak transcription	Spleen	Spleen
19	chr7:116607600-116622200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr7:116607600-116632400	Weak transcription	Gastric	stomach
21	chr7:116607800-116612600	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr7:116608000-116612800	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr7:116608600-116610800	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr7:116608600-116611000	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr7:116608800-116612800	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr7:116608800-116617400	Weak transcription	HSMMtube	muscle
27	chr7:116609000-116612800	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr7:116609000-116627400	Weak transcription	Placenta	Placenta
29	chr7:116609400-116611200	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr7:116609400-116611600	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr7:116609400-116611600	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr7:116609400-116612600	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr7:116609600-116610800	Enhancers	Sigmoid Colon	Sigmoid Colon
34	chr7:116609600-116610800	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr7:116609600-116611200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr7:116609800-116611000	Enhancers	H1 Cell Line	embryonic stem cell
37	chr7:116609800-116618000	Weak transcription	Stomach Smooth Muscle	stomach
38	chr7:116610000-116611000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr7:116610200-116610800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr7:116610200-116610800	Flanking Active TSS	GM12878-XiMat	blood
41	chr7:116610200-116610800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
42	chr7:116610200-116611200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr7:116610200-116611200	Enhancers	Psoas Muscle	Psoas
44	chr7:116610200-116611600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr7:116610200-116611800	Enhancers	A549	lung
46	chr7:116610200-116612200	Enhancers	Liver	Liver
47	chr7:116610400-116610800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr7:116610400-116610800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr7:116610400-116610800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr7:116610400-116610800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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