Variant report

Variant	rs73405465
Chromosome Location	chr7:99526754-99526755
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:29)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:29 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	USF1	chr7:99526708-99527102	SK-N-SH_RA	brain:	n/a	n/a
2	CTCF	chr7:99526722-99527650	HCT-116	colon:	n/a	n/a
3	USF1	chr7:99526702-99527229	A549	lung:	n/a	n/a
4	CTCF	chr7:99526700-99526850	SK-N-SH_RA	brain:	n/a	n/a
5	FOXA1	chr7:99526453-99526772	HepG2	liver:	n/a	n/a
6	FOXA2	chr7:99526332-99526875	A549	lung:	n/a	n/a
7	POLR2A	chr7:99526486-99527484	H1-hESC	embryonic stem cell:	n/a	n/a
8	USF1	chr7:99526624-99527399	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr7:99526660-99526810	GM12873	blood:	n/a	n/a
10	CTCF	chr7:99526731-99527730	SK-N-SH	brain:	n/a	n/a
11	FOXA2	chr7:99526467-99526791	HepG2	liver:	n/a	n/a
12	USF1	chr7:99526723-99527109	SK-N-SH_RA	brain:	n/a	n/a
13	POLR2A	chr7:99526744-99527282	HepG2	liver:	n/a	n/a
14	USF1	chr7:99526725-99527377	A549	lung:	n/a	n/a
15	USF1	chr7:99526708-99527171	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTCF	chr7:99526740-99526890	NB4	blood:	n/a	n/a
17	USF1	chr7:99526724-99527127	A549	lung:	n/a	n/a
18	USF1	chr7:99526689-99527037	ECC-1	luminal epithelium:	n/a	n/a
19	RAD21	chr7:99526565-99527651	SK-N-SH	brain:	n/a	n/a
20	CTCF	chr7:99526740-99526890	HepG2	liver:	n/a	n/a
21	CTCF	chr7:99526694-99526806	K562	blood:	n/a	n/a
22	POLR2A	chr7:99525940-99530576	K562	blood:	n/a	n/a
23	REST	chr7:99526624-99526891	H1-hESC	embryonic stem cell:	n/a	n/a
24	USF1	chr7:99526730-99527099	A549	lung:	n/a	n/a
25	CTCF	chr7:99526558-99527928	A549	lung:	n/a	n/a
26	USF1	chr7:99526594-99527415	HCT-116	colon:	n/a	n/a
27	USF1	chr7:99526698-99527051	ECC-1	luminal epithelium:	n/a	n/a
28	POLR2A	chr7:99526751-99527459	SK-N-MC	brain:	n/a	n/a
29	TAF1	chr7:99526726-99527434	H1-hESC	embryonic stem cell:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:56709071..56710607-chr7:99525389..99527300,2	MCF-7	breast:
2	chr7:99516373..99518642-chr7:99525768..99528008,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000237640	TF binding region
ENSG00000212195	Chromatin interaction
ENSG00000146833	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs17161888	1.00[AMR][1000 genomes]
rs57028043	1.00[AMR][1000 genomes]
rs57128906	1.00[AMR][1000 genomes]
rs57263854	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57403878	1.00[AMR][1000 genomes]
rs58602971	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58604532	1.00[AMR][1000 genomes]
rs58730747	1.00[AMR][1000 genomes]
rs59053341	1.00[AMR][1000 genomes]
rs59687495	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59900957	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60305755	1.00[AMR][1000 genomes]
rs60684015	1.00[AMR][1000 genomes]
rs60692359	1.00[AMR][1000 genomes]
rs61628190	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61648592	1.00[AMR][1000 genomes]
rs61687460	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61742750	1.00[AMR][1000 genomes]
rs73393662	1.00[AMR][1000 genomes]
rs73395957	1.00[AMR][1000 genomes]
rs73403599	1.00[AMR][1000 genomes]
rs73405419	1.00[AMR][1000 genomes]
rs73405431	1.00[AMR][1000 genomes]
rs73405469	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73405474	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73405480	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73405481	1.00[AMR][1000 genomes]
rs73409503	1.00[AMR][1000 genomes]
rs73409509	1.00[AMR][1000 genomes]
rs73409513	1.00[AMR][1000 genomes]
rs73409528	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73409529	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73409546	1.00[AMR][1000 genomes]
rs73409549	1.00[AMR][1000 genomes]
rs73409550	1.00[AMR][1000 genomes]
rs73409552	1.00[AMR][1000 genomes]
rs73411424	1.00[AMR][1000 genomes]
rs73411425	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1829865	chr7:99430678-99755141	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1131 gene(s)	inside rSNPs	diseases
2	esv1830649	chr7:99430678-99755141	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1131 gene(s)	inside rSNPs	diseases
3	nsv534298	chr7:99478011-99886076	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1132 gene(s)	inside rSNPs	diseases
4	nsv607930	chr7:99525241-99602191	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 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	chr7:99517600-99526800	Weak transcription	Gastric	stomach
2	chr7:99518200-99526800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr7:99518200-99526800	Weak transcription	Brain Anterior Caudate	brain
4	chr7:99518200-99526800	Weak transcription	Brain Hippocampus Middle	brain
5	chr7:99518200-99527000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr7:99518200-99527000	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr7:99518400-99526800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr7:99518400-99526800	Weak transcription	Rectal Smooth Muscle	rectum
9	chr7:99519800-99526800	Weak transcription	HSMM	muscle
10	chr7:99524400-99526800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr7:99525000-99526800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr7:99525000-99526800	Weak transcription	HMEC	breast
13	chr7:99525600-99527000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr7:99526200-99526800	Enhancers	Primary T cells from cord blood	blood
15	chr7:99526200-99526800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
16	chr7:99526200-99526800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr7:99526200-99526800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr7:99526200-99527000	Flanking Active TSS	HepG2	liver
19	chr7:99526400-99526800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
20	chr7:99526400-99526800	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr7:99526400-99526800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
22	chr7:99526400-99526800	Flanking Bivalent TSS/Enh	K562	blood
23	chr7:99526400-99527800	Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr7:99526400-99528000	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr7:99526600-99526800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
26	chr7:99526600-99526800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
27	chr7:99526600-99526800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
28	chr7:99526600-99526800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr7:99526600-99526800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr7:99526600-99526800	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr7:99526600-99526800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr7:99526600-99526800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr7:99526600-99526800	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr7:99526600-99526800	Enhancers	Liver	Liver
35	chr7:99526600-99526800	Enhancers	Lung	lung
36	chr7:99526600-99526800	Flanking Active TSS	A549	lung
37	chr7:99526600-99526800	Bivalent Enhancer	HUVEC	blood vessel
38	chr7:99526600-99527000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
39	chr7:99526600-99527000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
40	chr7:99526600-99527000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
41	chr7:99526600-99527000	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
42	chr7:99526600-99527000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr7:99526600-99527000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
44	chr7:99526600-99527000	Bivalent Enhancer	Fetal Stomach	stomach
45	chr7:99526600-99527000	Bivalent Enhancer	Fetal Thymus	thymus
46	chr7:99526600-99527200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
47	chr7:99526600-99527400	Active TSS	HUES6 Cell Line	embryonic stem cell
48	chr7:99526600-99527400	Active TSS	Primary hematopoietic stem cells	blood
49	chr7:99526600-99527400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr7:99526600-99527400	Enhancers	Left Ventricle	heart

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