Variant report

Variant	rs539041483
Chromosome Location	chr7:116570550-116570551
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:116570171..116571182-chr7:116652604..116653376,5	K562	blood:
2	chr7:116570148..116571132-chr7:116852812..116853758,4	K562	blood:
3	chr7:116570547..116571325-chr7:116759326..116759935,3	MCF-7	breast:
4	chr7:116569154..116573118-chr7:116592518..116595104,9	MCF-7	breast:
5	chr7:116570128..116571717-chr7:116758838..116760182,19	K562	blood:
6	chr7:116569093..116573225-chr7:116592050..116596557,6	K562	blood:
7	chr7:116562487..116565467-chr7:116567653..116570595,2	MCF-7	breast:
8	7:115847372-115857098..7:116568602-116574330	GM12878	blood:
9	chr7:116569475..116571657-chr7:116592884..116594472,2	MCF-7	breast:
10	chr7:116567075..116568820-chr7:116569252..116572115,2	MCF-7	breast:
11	chr7:116570194..116571338-chr7:116767371..116768123,3	MCF-7	breast:
12	chr7:116570010..116572826-chr7:116583507..116585407,2	K562	blood:
13	chr7:116569687..116574376-chr7:116579850..116586721,6	K562	blood:
14	chr7:116557404..116561072-chr7:116567108..116571328,4	K562	blood:
15	chr7:116570189..116571088-chr7:116764532..116765333,2	K562	blood:
16	chr7:116569534..116572103-chr7:116572304..116574237,2	K562	blood:
17	chr7:116569093..116572141-chr7:116765850..116768047,3	K562	blood:
18	7:116568602-116574330..7:116957165-116964911	H1-hESC	embryonic stem cell:	embryo
19	chr7:116570164..116571206-chr7:116758946..116760107,5	MCF-7	breast:
20	chr7:116570123..116571416-chr7:116767082..116768498,17	K562	blood:
21	7:116568602-116574330..7:116754962-116765597	GM12878	blood:
22	7:116568602-116574330..7:116651084-116657331	GM12878	blood:
23	chr7:116569834..116572713-chr7:116615771..116619319,3	MCF-7	breast:
24	chr7:116570499..116571103-chr7:116652412..116652980,2	MCF-7	breast:
25	7:116568602-116574330..7:116728195-116740907	GM12878	blood:

No data

Variant related genes	Relation type
ENSG00000004866	Chromatin interaction
ENSG00000135269	Chromatin interaction
ENSG00000214188	Chromatin interaction
ENSG00000227199	Chromatin interaction
ENSG00000105989	Chromatin interaction
ENSG00000222150	Chromatin interaction
ENSG00000226367	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv889074	chr7:116552859-116604194	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv889075	chr7:116552859-116610237	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	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
5	nsv366350	chr7:116569927-116573535	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:116544400-116570600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:116552000-116570600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr7:116553200-116570600	Weak transcription	Brain Substantia Nigra	brain
4	chr7:116556800-116570600	Weak transcription	Aorta	Aorta
5	chr7:116557000-116570800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr7:116557000-116570800	Weak transcription	NHEK	skin
7	chr7:116558000-116570600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr7:116558000-116570600	Weak transcription	Lung	lung
9	chr7:116558000-116570800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr7:116558200-116570600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr7:116558200-116570800	Weak transcription	HMEC	breast
12	chr7:116558400-116570600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr7:116558400-116570600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr7:116558400-116570600	Weak transcription	Brain Anterior Caudate	brain
15	chr7:116558400-116570800	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr7:116558600-116570600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr7:116559200-116570600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr7:116559200-116570600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr7:116559200-116570600	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr7:116559200-116576000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr7:116559600-116570600	Weak transcription	GM12878-XiMat	blood
22	chr7:116559600-116570800	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr7:116559600-116570800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr7:116559600-116570800	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr7:116560800-116570600	Weak transcription	Primary B cells from peripheral blood	blood
26	chr7:116560800-116570600	Weak transcription	Liver	Liver
27	chr7:116561200-116570600	Weak transcription	Duodenum Mucosa	Duodenum
28	chr7:116561200-116570600	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr7:116562400-116570600	Weak transcription	HUVEC	blood vessel
30	chr7:116562600-116570600	Weak transcription	Fetal Intestine Small	intestine
31	chr7:116568600-116571400	Enhancers	Fetal Brain Male	brain
32	chr7:116569000-116570600	Weak transcription	Fetal Heart	heart
33	chr7:116569200-116570600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr7:116570000-116570600	Enhancers	Fetal Brain Female	brain
35	chr7:116570200-116571000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr7:116570200-116571000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr7:116570200-116571000	Enhancers	Placenta	Placenta
38	chr7:116570200-116571200	Flanking Active TSS	HepG2	liver
39	chr7:116570400-116570600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr7:116570400-116570600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr7:116570400-116570600	Enhancers	A549	lung
42	chr7:116570400-116570600	Enhancers	Hela-S3	cervix
43	chr7:116570400-116570800	Flanking Active TSS	K562	blood
44	chr7:116570400-116570800	Active TSS	Osteobl	bone
45	chr7:116570400-116571000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
46	chr7:116570400-116571000	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chr7:116570400-116571000	Active TSS	Brain Hippocampus Middle	brain
48	chr7:116570400-116571000	Enhancers	Fetal Lung	lung
49	chr7:116570400-116571000	Enhancers	Rectal Mucosa Donor 31	rectum
50	chr7:116570400-116571000	Bivalent Enhancer	Stomach Mucosa	stomach

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