Variant report

Variant	rs12539753
Chromosome Location	chr7:116654201-116654202
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr7:116654141-116655047	K562	blood:	n/a	n/a
2	EP300	chr7:116653995-116655876	K562	blood:	n/a	chr7:116654509-116654523
3	POLR2A	chr7:116654163-116655196	PBDE	blood:	n/a	n/a
4	GATA1	chr7:116653750-116655337	PBDE	blood:	n/a	chr7:116654911-116654921 chr7:116654902-116654919 chr7:116654911-116654920
5	CEBPD	chr7:116654105-116655137	K562	blood:	n/a	n/a
6	ARID3A	chr7:116654055-116657700	K562	blood:	n/a	chr7:116656765-116656781
7	CEBPD	chr7:116654167-116655137	K562	blood:	n/a	n/a
8	KAP1	chr7:116654048-116654696	K562	blood:	n/a	n/a
9	JUN	chr7:116654077-116661129	K562	blood:	n/a	chr7:116659439-116659450 chr7:116656699-116656711
10	JUN	chr7:116654072-116654565	K562	blood:	n/a	n/a
11	CEBPB	chr7:116653968-116655416	K562	blood:	n/a	n/a
12	STAT5A	chr7:116654201-116654694	K562	blood:	n/a	n/a
13	STAT5A	chr7:116653984-116655152	K562	blood:	n/a	chr7:116654067-116654078
14	EP300	chr7:116654075-116655557	K562	blood:	n/a	chr7:116654509-116654523
15	GATA2	chr7:116654144-116655082	K562	blood:	n/a	chr7:116654911-116654921 chr7:116654902-116654919 chr7:116654911-116654920
16	PML	chr7:116654141-116655437	K562	blood:	n/a	n/a
17	CUX1	chr7:116653980-116655052	K562	blood:	n/a	chr7:116654791-116654802
18	TEAD4	chr7:116654085-116655952	K562	blood:	n/a	n/a
19	JUND	chr7:116654193-116655368	K562	blood:	n/a	n/a
20	TEAD4	chr7:116654122-116655437	K562	blood:	n/a	n/a
21	ZMIZ1	chr7:116654038-116655101	K562	blood:	n/a	n/a
22	MXI1	chr7:116654044-116657552	SK-N-SH	brain:	n/a	n/a
23	TRIM28	chr7:116654121-116655212	K562	blood:	n/a	n/a
24	MYC	chr7:116654098-116655849	K562	blood:	n/a	chr7:116654940-116654950 chr7:116654176-116654186 chr7:116654511-116654520
25	TBL1XR1	chr7:116654031-116655143	K562	blood:	n/a	n/a
26	MAX	chr7:116654127-116655133	K562	blood:	n/a	chr7:116654940-116654950 chr7:116654176-116654186 chr7:116654511-116654520
27	MEF2A	chr7:116654151-116655120	K562	blood:	n/a	chr7:116654305-116654326 chr7:116654776-116654791 chr7:116654305-116654326 chr7:116654305-116654326
28	BCL3	chr7:116654186-116654584	GM12878	blood:	n/a	n/a
29	MYC	chr7:116654010-116655152	K562	blood:	n/a	chr7:116654940-116654950 chr7:116654176-116654186 chr7:116654511-116654520
30	MXI1	chr7:116654172-116655212	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	7:116610596-116619447..7:116651084-116657331	H1-hESC	embryonic stem cell:	embryo
2	chr7:116589691..116599368-chr7:116647062..116658963,30	K562	blood:
3	7:116651084-116657331..7:117341506-117356953	Hela-S3	cervix:
4	chr7:116500369..116502943-chr7:116652939..116655757,2	K562	blood:
5	chr7:116591034..116595853-chr7:116650615..116657201,10	K562	blood:

Variant related genes	Relation type
ST7	TF binding region
ENSG00000004866	Chromatin interaction
ENSG00000213050	Chromatin interaction
ENSG00000227199	Chromatin interaction
ENSG00000001626	Chromatin interaction
ENSG00000214188	Chromatin interaction
ENSG00000198898	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11771917	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12669881	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12672783	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35057858	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4236605	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55840193	0.88[ASN][1000 genomes]
rs59908721	0.81[ASN][1000 genomes]
rs60715492	0.81[ASN][1000 genomes]
rs7788320	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7800379	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv527321	chr7:116635048-116660803	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:116635600-116654800	Weak transcription	Psoas Muscle	Psoas
2	chr7:116635800-116660200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:116639800-116660000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr7:116646400-116654400	Weak transcription	NHDF-Ad	bronchial
5	chr7:116648000-116654400	Weak transcription	Fetal Lung	lung
6	chr7:116649400-116654400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr7:116649600-116654400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr7:116650200-116654400	Weak transcription	Brain Anterior Caudate	brain
9	chr7:116650600-116654400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr7:116650600-116654400	Weak transcription	NH-A	brain
11	chr7:116650600-116655400	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr7:116650800-116659600	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr7:116651000-116654400	Weak transcription	NHEK	skin
14	chr7:116651000-116654600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr7:116651200-116654400	Weak transcription	Brain Substantia Nigra	brain
16	chr7:116651200-116654400	Weak transcription	HMEC	breast
17	chr7:116651200-116654400	Weak transcription	HSMM	muscle
18	chr7:116651200-116660000	Weak transcription	Ovary	ovary
19	chr7:116651400-116654400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr7:116651400-116654400	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr7:116651400-116660000	Weak transcription	Left Ventricle	heart
22	chr7:116651800-116654600	Weak transcription	HSMMtube	muscle
23	chr7:116651800-116660000	Weak transcription	Right Ventricle	heart
24	chr7:116652000-116654800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr7:116652000-116654800	Weak transcription	Right Atrium	heart
26	chr7:116652000-116654800	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr7:116652000-116655400	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr7:116652000-116655600	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr7:116652000-116657600	Weak transcription	Aorta	Aorta
30	chr7:116652200-116654400	Weak transcription	Primary hematopoietic stem cells	blood
31	chr7:116652200-116655600	Weak transcription	Primary T cells from cord blood	blood
32	chr7:116652200-116655600	Weak transcription	Colon Smooth Muscle	Colon
33	chr7:116652400-116654400	Weak transcription	Brain Cingulate Gyrus	brain
34	chr7:116652400-116654400	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr7:116652800-116654800	Weak transcription	A549	lung
36	chr7:116652800-116657000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr7:116653000-116654800	Enhancers	Fetal Heart	heart
38	chr7:116653400-116655400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr7:116653400-116657000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr7:116653800-116654600	Enhancers	Pancreatic Islets	Pancreatic Islet
41	chr7:116654000-116654600	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr7:116654000-116654600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr7:116654000-116654600	Flanking Active TSS	K562	blood
44	chr7:116654000-116654600	Enhancers	NHLF	lung
45	chr7:116654000-116656400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr7:116654200-116654400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr7:116654200-116654400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr7:116654200-116654400	Enhancers	Small Intestine	intestine
49	chr7:116654200-116654600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr7:116654200-116654600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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