Variant report

Variant	rs7703282
Chromosome Location	chr5:74906963-74906964
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:42)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:42 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SP1	chr5:74906642-74907349	A549	lung:	n/a	n/a
2	REST	chr5:74906795-74907447	A549	lung:	n/a	n/a
3	POLR2A	chr5:74906735-74906982	H1-hESC	embryonic stem cell:	n/a	n/a
4	GABPA	chr5:74906739-74906999	K562	blood:	n/a	n/a
5	FOXA1	chr5:74906726-74907110	HepG2	liver:	n/a	n/a
6	NR3C1	chr5:74906738-74907185	A549	lung:	n/a	n/a
7	NR2F2	chr5:74906620-74907127	K562	blood:	n/a	n/a
8	MAX	chr5:74906725-74907078	K562	blood:	n/a	n/a
9	FOXA2	chr5:74906686-74907248	A549	lung:	n/a	n/a
10	FOSL2	chr5:74906744-74907080	HepG2	liver:	n/a	n/a
11	FOXA2	chr5:74906834-74907035	HepG2	liver:	n/a	n/a
12	USF1	chr5:74906787-74907035	HepG2	liver:	n/a	n/a
13	RXRA	chr5:74906778-74907020	HepG2	liver:	n/a	n/a
14	YY1	chr5:74906891-74907474	H1-hESC	embryonic stem cell:	n/a	n/a
15	GATA2	chr5:74906606-74907152	K562	blood:	n/a	n/a
16	STAT5A	chr5:74906677-74907037	K562	blood:	n/a	n/a
17	NR2F2	chr5:74906545-74907218	K562	blood:	n/a	n/a
18	TAL1	chr5:74906450-74907099	K562	blood:	n/a	n/a
19	FOXA1	chr5:74906806-74907080	HepG2	liver:	n/a	n/a
20	MAX	chr5:74906808-74907007	H1-hESC	embryonic stem cell:	n/a	n/a
21	TCF12	chr5:74906561-74908051	A549	lung:	n/a	n/a
22	HEY1	chr5:74906834-74907112	HepG2	liver:	n/a	n/a
23	FOXA2	chr5:74906654-74907210	A549	lung:	n/a	n/a
24	POLR2A	chr5:74906811-74907598	HepG2	liver:	n/a	n/a
25	TAF1	chr5:74906961-74907441	A549	lung:	n/a	n/a
26	POLR2A	chr5:74906783-74907059	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr5:74906773-74907028	K562	blood:	n/a	n/a
28	SIN3AK20	chr5:74906834-74907008	HepG2	liver:	n/a	n/a
29	MYC	chr5:74906893-74907042	HepG2	liver:	n/a	n/a
30	FOXA1	chr5:74906808-74907164	HepG2	liver:	n/a	n/a
31	CBX3	chr5:74906700-74907065	K562	blood:	n/a	n/a
32	POLR2A	chr5:74906788-74906997	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr5:74906899-74907821	HepG2	liver:	n/a	n/a
34	SP1	chr5:74906726-74907098	HepG2	liver:	n/a	n/a
35	STAT5A	chr5:74906717-74907081	K562	blood:	n/a	n/a
36	POLR2A	chr5:74906728-74907022	K562	blood:	n/a	n/a
37	POLR2A	chr5:74906728-74907036	K562	blood:	n/a	n/a
38	POLR2A	chr5:74906727-74907006	GM12878	blood:	n/a	n/a
39	POLR2A	chr5:74906699-74907867	H1-hESC	embryonic stem cell:	n/a	n/a
40	JUND	chr5:74906797-74906995	HepG2	liver:	n/a	n/a
41	YY1	chr5:74906839-74907373	A549	lung:	n/a	n/a
42	TEAD4	chr5:74906720-74907027	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:74806025..74808781-chr5:74906137..74908952,2	MCF-7	breast:

No data

Variant related genes	Relation type
ANKDD1B	TF binding region
ENSG00000113163	Chromatin interaction
ENSG00000122008	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11748027	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4549504	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4604177	0.81[AMR][1000 genomes]
rs4704223	0.81[AMR][1000 genomes]
rs4704227	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs5744552	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs5744672	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs5744680	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6873472	0.81[AMR][1000 genomes]
rs6896136	0.81[AMR][1000 genomes]
rs984976	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882193	chr5:74656175-74917862	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv882194	chr5:74656175-74946455	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv882196	chr5:74678937-74917862	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv882197	chr5:74692776-74946455	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv882199	chr5:74757758-74946455	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv1027368	chr5:74759999-75663712	Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	nsv882202	chr5:74808417-74946455	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv518475	chr5:74863041-75411804	Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
9	esv1850196	chr5:74890618-75138443	Strong transcription Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74862800-74907200	Weak transcription	Esophagus	oesophagus
2	chr5:74864000-74907000	Weak transcription	Psoas Muscle	Psoas
3	chr5:74867600-74907200	Weak transcription	Small Intestine	intestine
4	chr5:74873600-74907000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr5:74875200-74907000	Weak transcription	Right Ventricle	heart
6	chr5:74879000-74907000	Weak transcription	HepG2	liver
7	chr5:74889800-74907200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr5:74890400-74907000	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr5:74892800-74907000	Weak transcription	Colon Smooth Muscle	Colon
10	chr5:74894400-74908200	Weak transcription	GM12878-XiMat	blood
11	chr5:74896600-74907000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr5:74896600-74907000	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr5:74896600-74907000	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr5:74896600-74907200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr5:74896800-74907000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr5:74897800-74907000	Weak transcription	Gastric	stomach
17	chr5:74898200-74907000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr5:74898200-74907000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr5:74898200-74907000	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr5:74898200-74907000	Weak transcription	NHDF-Ad	bronchial
21	chr5:74898200-74907200	Weak transcription	Spleen	Spleen
22	chr5:74898400-74907000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr5:74898400-74907000	Weak transcription	Fetal Intestine Large	intestine
24	chr5:74898400-74907000	Weak transcription	Fetal Muscle Trunk	muscle
25	chr5:74898400-74907000	Weak transcription	Stomach Smooth Muscle	stomach
26	chr5:74898400-74907200	Weak transcription	Lung	lung
27	chr5:74898400-74907200	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr5:74898400-74907200	Weak transcription	Thymus	Thymus
29	chr5:74898600-74907000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr5:74898600-74907000	Weak transcription	Brain Germinal Matrix	brain
31	chr5:74898800-74907000	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr5:74899200-74907000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr5:74899600-74907000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr5:74899600-74907000	Weak transcription	Primary B cells from cord blood	blood
35	chr5:74899600-74907000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr5:74899600-74907000	Weak transcription	Brain Cingulate Gyrus	brain
37	chr5:74899600-74907200	Weak transcription	HMEC	breast
38	chr5:74899600-74907200	Weak transcription	HSMM	muscle
39	chr5:74899800-74907000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr5:74899800-74907000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr5:74899800-74907000	Weak transcription	Osteobl	bone
42	chr5:74899800-74907200	Weak transcription	Left Ventricle	heart
43	chr5:74899800-74907200	Weak transcription	NHLF	lung
44	chr5:74900000-74907000	Weak transcription	Fetal Stomach	stomach
45	chr5:74900000-74907000	Weak transcription	NH-A	brain
46	chr5:74900000-74907200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr5:74900200-74907000	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr5:74900600-74907000	Weak transcription	Fetal Muscle Leg	muscle
49	chr5:74900600-74907200	Weak transcription	Aorta	Aorta
50	chr5:74901000-74907000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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