Variant report

Variant	rs7703522
Chromosome Location	chr5:111504479-111504480
allele	C/T
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	POLR2A	chr5:111504288-111504896	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr5:111496280-111506960	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr5:111496127-111504829	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr5:111504389-111504612	HepG2	liver:	n/a	n/a
5	POLR2A	chr5:111496397-111504968	K562	blood:	n/a	n/a
6	POLR2A	chr5:111504340-111504940	SK-N-MC	brain:	n/a	n/a
7	POLR2A	chr5:111502872-111504856	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr5:111496195-111505491	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:111503980..111506560-chr5:111518097..111522166,4	K562	blood:

Variant related genes	Relation type
ENSG00000250882	TF binding region
ENSG00000129595	Chromatin interaction

Extended variants
information (count: 112 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:106)

rs_ID	r²[population]
rs10037824	1.00[ASN][1000 genomes]
rs10040749	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10054560	1.00[ASN][1000 genomes]
rs10054719	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10065740	1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs10068493	1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs10069011	1.00[ASN][1000 genomes]
rs10070995	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1020951	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10463433	1.00[ASN][1000 genomes]
rs10477478	1.00[ASN][1000 genomes]
rs10478073	1.00[ASN][1000 genomes]
rs1054724	0.96[CEU][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.86[MEX][hapmap];0.88[TSI][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1078128	1.00[ASN][1000 genomes]
rs11241153	1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs12186685	1.00[CHD][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs12187589	1.00[ASN][1000 genomes]
rs12188700	1.00[ASN][1000 genomes]
rs12189034	1.00[CHD][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs13153601	1.00[ASN][1000 genomes]
rs1366144	0.80[CEU][hapmap];1.00[ASN][1000 genomes]
rs1427978	1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs1560052	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1560053	1.00[ASN][1000 genomes]
rs1560054	1.00[CHD][hapmap];0.80[GIH][hapmap];1.00[ASN][1000 genomes]
rs1560055	1.00[ASN][1000 genomes]
rs1560057	1.00[ASN][1000 genomes]
rs1560058	1.00[ASN][1000 genomes]
rs1560061	1.00[CHD][hapmap]
rs17134319	1.00[ASN][1000 genomes]
rs17134348	1.00[ASN][1000 genomes]
rs17271934	1.00[CHD][hapmap]
rs1896620	1.00[ASN][1000 genomes]
rs1896621	1.00[ASN][1000 genomes]
rs1975015	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2114991	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2416277	1.00[ASN][1000 genomes]
rs27413	1.00[ASN][1000 genomes]
rs4602685	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs4957632	1.00[ASN][1000 genomes]
rs4957634	1.00[ASN][1000 genomes]
rs4957636	1.00[ASN][1000 genomes]
rs4958002	1.00[ASN][1000 genomes]
rs4958003	1.00[ASN][1000 genomes]
rs4958004	1.00[ASN][1000 genomes]
rs4958009	1.00[ASN][1000 genomes]
rs4958010	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs4958012	1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs4958013	1.00[ASN][1000 genomes]
rs4958014	1.00[ASN][1000 genomes]
rs4958015	1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs4958020	1.00[ASN][1000 genomes]
rs4958025	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs55639430	1.00[ASN][1000 genomes]
rs55796748	1.00[ASN][1000 genomes]
rs55829200	1.00[ASN][1000 genomes]
rs55913426	1.00[ASN][1000 genomes]
rs56108405	1.00[ASN][1000 genomes]
rs56288086	1.00[ASN][1000 genomes]
rs56293447	1.00[ASN][1000 genomes]
rs56307310	1.00[ASN][1000 genomes]
rs56881711	1.00[ASN][1000 genomes]
rs57428532	1.00[ASN][1000 genomes]
rs59537089	1.00[ASN][1000 genomes]
rs60636568	1.00[ASN][1000 genomes]
rs61061658	1.00[ASN][1000 genomes]
rs62367266	1.00[ASN][1000 genomes]
rs62372418	0.81[AMR][1000 genomes]
rs62372421	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6594566	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.89[LWK][hapmap];0.93[MEX][hapmap];0.80[MKK][hapmap];0.97[TSI][hapmap];0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6594567	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6594569	1.00[ASN][1000 genomes]
rs6594571	1.00[ASN][1000 genomes]
rs6594574	1.00[ASN][1000 genomes]
rs6594577	1.00[ASN][1000 genomes]
rs6594588	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs66892745	1.00[ASN][1000 genomes]
rs67033649	1.00[ASN][1000 genomes]
rs67586008	1.00[ASN][1000 genomes]
rs67631852	1.00[ASN][1000 genomes]
rs6863063	1.00[ASN][1000 genomes]
rs6872947	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6876893	0.86[ASW][hapmap];1.00[CHD][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs6878423	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs6884589	1.00[ASN][1000 genomes]
rs6893877	1.00[CHD][hapmap]
rs6894036	1.00[CHD][hapmap]
rs72781655	1.00[ASN][1000 genomes]
rs72781664	1.00[ASN][1000 genomes]
rs72781668	1.00[ASN][1000 genomes]
rs72781677	1.00[ASN][1000 genomes]
rs72781678	1.00[ASN][1000 genomes]
rs7704087	1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs7706160	1.00[ASN][1000 genomes]
rs7709484	1.00[ASN][1000 genomes]
rs7710973	1.00[ASN][1000 genomes]
rs7711158	1.00[ASN][1000 genomes]
rs7716309	1.00[ASN][1000 genomes]
rs7717160	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.95[LWK][hapmap];0.93[MEX][hapmap];0.92[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7717363	1.00[ASN][1000 genomes]
rs7719346	1.00[CHD][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs7722291	1.00[ASN][1000 genomes]
rs821736	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs821749	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs890757	1.00[ASN][1000 genomes]
rs890758	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599367	chr5:110924280-111602713	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv1015302	chr5:111339022-111802947	Enhancers Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv537861	chr5:111339022-111802947	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv599368	chr5:111399885-112032675	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv948869	chr5:111476404-111695183	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv531291	chr5:111497440-111756788	Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111497600-111538600	Weak transcription	Small Intestine	intestine
2	chr5:111497800-111505000	Strong transcription	Primary T cells fromperipheralblood	blood
3	chr5:111497800-111505000	Strong transcription	Fetal Muscle Trunk	muscle
4	chr5:111498000-111504800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr5:111498000-111504800	Strong transcription	Fetal Thymus	thymus
6	chr5:111498000-111505600	Strong transcription	Fetal Muscle Leg	muscle
7	chr5:111498000-111505600	Strong transcription	Placenta	Placenta
8	chr5:111498200-111504800	Strong transcription	Fetal Intestine Large	intestine
9	chr5:111498200-111504800	Strong transcription	Sigmoid Colon	Sigmoid Colon
10	chr5:111498200-111505000	Strong transcription	Rectal Mucosa Donor 29	rectum
11	chr5:111498200-111505600	Strong transcription	Stomach Smooth Muscle	stomach
12	chr5:111498200-111518800	Weak transcription	Right Atrium	heart
13	chr5:111498400-111504800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr5:111498400-111504800	Strong transcription	Skeletal Muscle Male	skeletal muscle
15	chr5:111498400-111506000	Strong transcription	Left Ventricle	heart
16	chr5:111498400-111506400	Strong transcription	Fetal Kidney	kidney
17	chr5:111498400-111506800	Strong transcription	Adipose Nuclei	Adipose
18	chr5:111498600-111504800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr5:111498600-111504800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr5:111498600-111504800	Strong transcription	Thymus	Thymus
21	chr5:111498600-111505000	Strong transcription	Primary B cells from cord blood	blood
22	chr5:111498600-111506600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr5:111498800-111504600	Strong transcription	Primary T cells from cord blood	blood
24	chr5:111498800-111504800	Strong transcription	Brain Hippocampus Middle	brain
25	chr5:111498800-111505000	Strong transcription	Duodenum Mucosa	Duodenum
26	chr5:111498800-111506800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr5:111498800-111507600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr5:111499000-111505000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr5:111499000-111505000	Strong transcription	Fetal Lung	lung
30	chr5:111499200-111504600	Strong transcription	Brain Cingulate Gyrus	brain
31	chr5:111499200-111504800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr5:111499200-111505800	Strong transcription	Fetal Brain Female	brain
33	chr5:111499600-111504800	Strong transcription	Primary T helper cells PMA-I stimulated	--
34	chr5:111499600-111505000	Strong transcription	Esophagus	oesophagus
35	chr5:111499600-111507200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr5:111499600-111510800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr5:111499800-111504800	Strong transcription	HUVEC	blood vessel
38	chr5:111499800-111510600	Weak transcription	Colon Smooth Muscle	Colon
39	chr5:111500000-111510600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr5:111500200-111504600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr5:111500200-111510600	Weak transcription	Brain Anterior Caudate	brain
42	chr5:111500400-111505000	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr5:111500400-111510600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr5:111500600-111504800	Weak transcription	Colonic Mucosa	Colon
45	chr5:111500600-111505200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr5:111500600-111505400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr5:111500600-111508800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr5:111500800-111510600	Weak transcription	NHEK	skin
49	chr5:111501400-111546400	Weak transcription	Spleen	Spleen
50	chr5:111502000-111504800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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