Variant report

Variant	rs962507
Chromosome Location	chr7:50801513-50801514
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:45)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:45 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr7:50801175-50801758	A549	lung:	n/a	n/a
2	STAT3	chr7:50801339-50801767	MCF10A-Er-Src	breast:	n/a	n/a
3	HDAC2	chr7:50801309-50801722	MCF-7	breast:	n/a	n/a
4	RFX5	chr7:50801310-50801636	Hela-S3	cervix:	n/a	n/a
5	FOS	chr7:50801305-50801711	MCF10A-Er-Src	breast:	n/a	n/a
6	NR2F2	chr7:50801148-50801867	MCF-7	breast:	n/a	n/a
7	JUND	chr7:50801323-50801726	A549	lung:	n/a	n/a
8	SP1	chr7:50801128-50801823	A549	lung:	n/a	n/a
9	SP1	chr7:50801231-50801849	A549	lung:	n/a	n/a
10	SIN3AK20	chr7:50801146-50801930	MCF-7	breast:	n/a	n/a
11	FOXM1	chr7:50801197-50801680	MCF-7	breast:	n/a	n/a
12	E2F4	chr7:50801388-50801714	MCF10A-Er-Src	breast:	n/a	n/a
13	JUND	chr7:50801242-50801597	A549	lung:	n/a	n/a
14	POLR2A	chr7:50800481-50801574	A549	lung:	n/a	n/a
15	MAX	chr7:50801204-50801653	MCF-7	breast:	n/a	n/a
16	FOXA2	chr7:50801193-50801704	A549	lung:	n/a	n/a
17	FOSL2	chr7:50801296-50801640	A549	lung:	n/a	n/a
18	STAT3	chr7:50801325-50801732	MCF10A-Er-Src	breast:	n/a	n/a
19	GATA3	chr7:50801221-50801722	MCF-7	breast:	n/a	n/a
20	MYC	chr7:50801390-50801696	MCF10A-Er-Src	breast:	n/a	n/a
21	SMC3	chr7:50801439-50801644	Hela-S3	cervix:	n/a	n/a
22	STAT3	chr7:50801341-50801704	MCF10A-Er-Src	breast:	n/a	n/a
23	CEBPB	chr7:50801374-50801719	A549	lung:	n/a	n/a
24	STAT3	chr7:50801416-50801642	MCF10A-Er-Src	breast:	n/a	n/a
25	CEBPB	chr7:50801271-50801735	MCF-7	breast:	n/a	n/a
26	CEBPB	chr7:50801219-50801783	A549	lung:	n/a	n/a
27	CEBPB	chr7:50801336-50801737	Hela-S3	cervix:	n/a	n/a
28	CEBPB	chr7:50801261-50801768	MCF-7	breast:	n/a	n/a
29	NR2F2	chr7:50801176-50801755	MCF-7	breast:	n/a	n/a
30	CEBPB	chr7:50801349-50801758	A549	lung:	n/a	n/a
31	FOS	chr7:50801310-50801725	MCF10A-Er-Src	breast:	n/a	n/a
32	FOSL2	chr7:50801302-50801697	MCF-7	breast:	n/a	n/a
33	ZKSCAN1	chr7:50801331-50801543	Hela-S3	cervix:	n/a	n/a
34	TCF12	chr7:50801076-50801880	A549	lung:	n/a	n/a
35	MAX	chr7:50801265-50801592	A549	lung:	n/a	n/a
36	FOXA1	chr7:50801307-50801643	T-47D	breast:	n/a	n/a
37	MAX	chr7:50801141-50801772	A549	lung:	n/a	n/a
38	FOS	chr7:50801380-50801717	MCF10A-Er-Src	breast:	n/a	n/a
39	EP300	chr7:50801158-50801728	A549	lung:	n/a	n/a
40	FOXA2	chr7:50801286-50801823	A549	lung:	n/a	n/a
41	CEBPB	chr7:50801378-50801739	IMR90	lung:	n/a	n/a
42	FOSL2	chr7:50801153-50801804	A549	lung:	n/a	n/a
43	FOXA2	chr7:50801337-50801662	HepG2	liver:	n/a	n/a
44	ZNF217	chr7:50801303-50801668	MCF-7	breast:	n/a	n/a
45	FOS	chr7:50801349-50801662	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:50799534..50801547-chr7:50859929..50861719,2	K562	blood:
2	chr7:50793779..50796801-chr7:50798861..50802305,3	K562	blood:

No data

Variant related genes	Relation type
GRB10	TF binding region
ENSG00000106070	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10225052	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10275663	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2329425	0.81[AMR][1000 genomes]
rs2329493	0.81[YRI][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs28758301	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55677734	0.91[AMR][1000 genomes]
rs59781518	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs61635288	0.81[AMR][1000 genomes]
rs6968670	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9656698	0.97[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]

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	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1031138	chr7:50651793-50814881	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50763400-50806800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr7:50773000-50807400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:50780600-50807600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr7:50787000-50807600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr7:50788000-50816000	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr7:50789400-50811600	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr7:50789600-50807400	Weak transcription	Esophagus	oesophagus
8	chr7:50793000-50801800	Weak transcription	Fetal Intestine Small	intestine
9	chr7:50793200-50807200	Weak transcription	Primary hematopoietic stem cells	blood
10	chr7:50793800-50807200	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr7:50794800-50802200	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr7:50794800-50802200	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr7:50794800-50803000	Weak transcription	Primary T cells from cord blood	blood
14	chr7:50795200-50807400	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr7:50796200-50802200	Enhancers	Psoas Muscle	Psoas
16	chr7:50797600-50802400	Enhancers	Pancreas	Pancrea
17	chr7:50798000-50812000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr7:50798600-50822600	Weak transcription	Ovary	ovary
19	chr7:50798800-50806800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr7:50798800-50807400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr7:50798800-50810000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr7:50798800-50811400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr7:50798800-50815200	Weak transcription	Aorta	Aorta
24	chr7:50798800-50815200	Weak transcription	Stomach Smooth Muscle	stomach
25	chr7:50798800-50824800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr7:50798800-50832400	Weak transcription	HSMM	muscle
27	chr7:50798800-50837200	Weak transcription	HSMMtube	muscle
28	chr7:50799000-50801800	Weak transcription	Placenta	Placenta
29	chr7:50799000-50804600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr7:50799000-50807200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr7:50799000-50815200	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr7:50799000-50817400	Weak transcription	Rectal Smooth Muscle	rectum
33	chr7:50799000-50823000	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr7:50799200-50807200	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr7:50799200-50807400	Weak transcription	Fetal Lung	lung
36	chr7:50799200-50811400	Weak transcription	Fetal Brain Female	brain
37	chr7:50799800-50805600	Weak transcription	K562	blood
38	chr7:50799800-50807200	Weak transcription	Brain Substantia Nigra	brain
39	chr7:50800000-50801800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr7:50800000-50804200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr7:50800000-50806200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr7:50800000-50807000	Weak transcription	HUVEC	blood vessel
43	chr7:50800200-50802400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr7:50800400-50801600	Enhancers	Fetal Heart	heart
45	chr7:50800400-50802200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr7:50800400-50803000	Weak transcription	Brain Germinal Matrix	brain
47	chr7:50800400-50811200	Weak transcription	Fetal Stomach	stomach
48	chr7:50800800-50801800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr7:50801000-50802000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr7:50801000-50802200	Enhancers	Spleen	Spleen

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