Variant report

Variant	rs564792278
Chromosome Location	chr7:126987234-126987235
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:126987017-126987355	K562	blood:	n/a	n/a
2	POLR2A	chr7:126987120-126988402	GM12878	blood:	n/a	n/a
3	POLR2A	chr7:126986860-126987402	MCF-7	breast:	n/a	n/a
4	POLR2A	chr7:126985052-127000124	K562	blood:	n/a	n/a
5	POLR2A	chr7:126985342-126987332	Hela-S3	cervix:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:126985529..126987852-chr7:126995561..126998469,2	K562	blood:
2	chr7:126986399..126988206-chr7:127024325..127027237,2	K562	blood:
3	chr7:126985391..126987885-chr7:127220985..127222536,2	MCF-7	breast:
4	chr7:126979918..126982217-chr7:126984570..126987487,3	K562	blood:
5	chr7:126985955..126988348-chr7:127020622..127023787,3	K562	blood:
6	chr7:126985498..126988348-chr7:127020185..127023787,5	K562	blood:
7	chr7:126987125..126989269-chr7:127032034..127034121,3	K562	blood:
8	chr7:126975549..126977117-chr7:126985194..126987625,2	MCF-7	breast:
9	chr7:126986706..126988243-chr7:127024325..127027268,2	K562	blood:
10	chr7:126985549..126992875-chr7:127029251..127034121,12	K562	blood:
11	chr7:126986612..126990415-chr7:127030676..127033732,5	MCF-7	breast:
12	chr7:126987100..126989492-chr7:127030062..127031935,2	K562	blood:
13	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:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:126984400-126987600	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr7:126984400-127000800	Weak transcription	HSMMtube	muscle
3	chr7:126984600-126987600	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr7:126984800-126987600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr7:126984800-126987600	Weak transcription	K562	blood
6	chr7:126985600-126987600	Weak transcription	Thymus	Thymus
7	chr7:126985800-126987600	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr7:126986000-126987600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr7:126986200-126987600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr7:126986400-126988000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:126986600-126987600	Enhancers	Rectal Mucosa Donor 29	rectum
12	chr7:126986600-126987600	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr7:126986800-126987600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr7:126986800-126987600	Enhancers	Adipose Nuclei	Adipose
15	chr7:126986800-126987600	Enhancers	Aorta	Aorta
16	chr7:126986800-126987600	Enhancers	Colonic Mucosa	Colon
17	chr7:126987000-126987600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr7:126987000-126987600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr7:126987000-126987600	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr7:126987000-126987600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr7:126987000-126987600	Enhancers	Esophagus	oesophagus
22	chr7:126987000-126987600	Enhancers	Lung	lung
23	chr7:126987000-126987600	Enhancers	Pancreas	Pancrea
24	chr7:126987000-126987600	Strong transcription	HSMM	muscle
25	chr7:126987000-126988200	Enhancers	Gastric	stomach
26	chr7:126987000-126988400	Enhancers	Primary T cells fromperipheralblood	blood
27	chr7:126987000-126988400	Enhancers	Placenta	Placenta
28	chr7:126987000-126988600	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr7:126987200-126987600	Enhancers	Primary B cells from peripheral blood	blood
30	chr7:126987200-126988800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr7:126987200-126995400	Weak transcription	Dnd41	blood

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