Variant report

Variant	rs76541857
Chromosome Location	chr7:126988360-126988361
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:34)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:34 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:126988124-126988420	HepG2	liver:	n/a	n/a
2	RAD21	chr7:126987686-126988366	IMR90	lung:	n/a	n/a
3	MXI1	chr7:126987628-126988764	IMR90	lung:	n/a	n/a
4	RAD21	chr7:126987501-126988625	SK-N-SH	brain:	n/a	n/a
5	MAX	chr7:126987524-126988415	SK-N-SH	brain:	n/a	n/a
6	MXI1	chr7:126987369-126989289	SK-N-SH	brain:	n/a	n/a
7	POLR2A	chr7:126987571-126988435	MCF-7	breast:	n/a	n/a
8	CTCF	chr7:126988240-126988390	HMEC	breast:	n/a	n/a
9	CTCF	chr7:126987517-126988720	A549	lung:	n/a	n/a
10	CTCF	chr7:126987434-126988981	SK-N-SH	brain:	n/a	n/a
11	POLR2A	chr7:126988153-126988393	MCF10A-Er-Src	breast:	n/a	n/a
12	SMC3	chr7:126987466-126988450	SK-N-SH	brain:	n/a	n/a
13	POLR2A	chr7:126987609-126988376	K562	blood:	n/a	n/a
14	POLR2A	chr7:126987120-126988402	GM12878	blood:	n/a	n/a
15	POLR2A	chr7:126987618-126988444	K562	blood:	n/a	n/a
16	HA-E2F1	chr7:126987564-126988364	MCF-7	breast:	n/a	n/a
17	CTCF	chr7:126987673-126988418	IMR90	lung:	n/a	n/a
18	CTCF	chr7:126988260-126988410	HFF	foreskin:	n/a	n/a
19	POLR2A	chr7:126987544-126988404	HL-60	blood:	n/a	n/a
20	MYC	chr7:126987664-126988472	A549	lung:	n/a	n/a
21	MTA3	chr7:126988020-126988443	GM12878	blood:	n/a	n/a
22	CTCF	chr7:126988240-126988390	HRPEpiC	eye:	n/a	n/a
23	MAX	chr7:126987696-126988385	A549	lung:	n/a	n/a
24	MAX	chr7:126987462-126988480	A549	lung:	n/a	n/a
25	MAX	chr7:126987472-126988380	MCF-7	breast:	n/a	n/a
26	POLR2A	chr7:126987616-126988374	HUVEC	blood vessel:	n/a	n/a
27	CTCF	chr7:126987604-126988370	MCF-7	breast:	n/a	n/a
28	POLR2A	chr7:126985052-127000124	K562	blood:	n/a	n/a
29	CTCF	chr7:126988220-126988370	GM12864	blood:	n/a	n/a
30	CTCF	chr7:126987554-126988697	K562	blood:	n/a	n/a
31	MAX	chr7:126987460-126988362	K562	blood:	n/a	n/a
32	RCOR1	chr7:126987619-126988362	K562	blood:	n/a	n/a
33	EBF1	chr7:126987836-126988372	GM12878	blood:	n/a	chr7:126988121-126988134 chr7:126988123-126988132 chr7:126988121-126988132 chr7:126988123-126988132 chr7:126988122-126988132
34	E2F6	chr7:126987498-126988363	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr7:126987125..126989269-chr7:127032034..127034121,3	K562	blood:
2	chr7:126987864..126988465-chr7:127847991..127848717,2	MCF-7	breast:
3	chr7:126894392..126896260-chr7:126987799..126989472,2	K562	blood:
4	chr7:126987414..126988399-chr7:127154646..127155519,3	MCF-7	breast:
5	chr7:126985549..126992875-chr7:127029251..127034121,12	K562	blood:
6	chr7:126986612..126990415-chr7:127030676..127033732,5	MCF-7	breast:
7	chr7:126987100..126989492-chr7:127030062..127031935,2	K562	blood:
8	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:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:126984400-127000800	Weak transcription	HSMMtube	muscle
2	chr7:126987000-126988400	Enhancers	Primary T cells fromperipheralblood	blood
3	chr7:126987000-126988400	Enhancers	Placenta	Placenta
4	chr7:126987000-126988600	Enhancers	Primary T killer memory cells from peripheral blood	blood
5	chr7:126987200-126988800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr7:126987200-126995400	Weak transcription	Dnd41	blood
7	chr7:126987600-126988400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr7:126987600-126988400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
9	chr7:126987600-126988400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr7:126987600-126988400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
11	chr7:126987600-126988400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
12	chr7:126987600-126988400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
13	chr7:126987600-126988400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
14	chr7:126987600-126988400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr7:126987600-126988400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
16	chr7:126987600-126988400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr7:126987600-126988400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr7:126987600-126988400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr7:126987600-126988400	Active TSS	Brain Anterior Caudate	brain
20	chr7:126987600-126988400	Active TSS	Brain Inferior Temporal Lobe	brain
21	chr7:126987600-126988400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr7:126987600-126988400	Enhancers	Fetal Heart	heart
23	chr7:126987600-126988400	Bivalent Enhancer	Fetal Thymus	thymus
24	chr7:126987600-126988400	Flanking Active TSS	Ovary	ovary
25	chr7:126987600-126988400	Active TSS	Right Atrium	heart
26	chr7:126987600-126988400	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr7:126987600-126988400	Active TSS	Stomach Smooth Muscle	stomach
28	chr7:126987600-126988400	Active TSS	A549	lung
29	chr7:126987600-126988400	Active TSS	Hela-S3	cervix
30	chr7:126987600-126988400	Flanking Active TSS	HMEC	breast
31	chr7:126987600-126988400	Active TSS	NHDF-Ad	bronchial
32	chr7:126987600-126988400	Active TSS	NHLF	lung
33	chr7:126987600-126988600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr7:126987600-126988600	Enhancers	Colon Smooth Muscle	Colon
35	chr7:126987600-126988600	Active TSS	Pancreatic Islets	Pancreatic Islet
36	chr7:126987600-126988600	Enhancers	Fetal Lung	lung
37	chr7:126987600-126988800	Active TSS	GM12878-XiMat	blood
38	chr7:126987800-126988400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
39	chr7:126987800-126988400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr7:126987800-126988400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr7:126987800-126988400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr7:126987800-126988400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr7:126987800-126988400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr7:126987800-126988400	Active TSS	Aorta	Aorta
45	chr7:126987800-126988400	Active TSS	Brain Germinal Matrix	brain
46	chr7:126987800-126988400	Enhancers	Brain Substantia Nigra	brain
47	chr7:126987800-126988400	Active TSS	Skeletal Muscle Male	skeletal muscle
48	chr7:126987800-126988600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
49	chr7:126987800-127020600	Weak transcription	Spleen	Spleen
50	chr7:126988000-126988400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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