Variant report

Variant	rs2204123
Chromosome Location	chr7:3479432-3479433
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs17133289	0.84[CHD][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs17133292	0.84[CHD][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs17133300	0.84[CHD][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs17133315	0.86[ASN][1000 genomes]
rs17133341	1.00[JPT][hapmap]
rs17133346	1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs17133355	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs17133368	0.85[CHB][hapmap];0.83[ASN][1000 genomes]
rs17133379	0.86[CHB][hapmap]
rs17374391	0.82[CHB][hapmap]
rs17840351	0.98[ASN][1000 genomes]
rs2204122	0.93[ASW][hapmap];0.93[CEU][hapmap];0.97[GIH][hapmap];0.88[LWK][hapmap];0.85[MKK][hapmap];0.86[TSI][hapmap];0.95[YRI][hapmap];0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2341582	0.95[ASN][1000 genomes]
rs41363846	0.86[ASW][hapmap];0.93[CEU][hapmap];0.87[LWK][hapmap];0.89[TSI][hapmap];0.82[YRI][hapmap];0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4326295	0.89[JPT][hapmap]
rs55654188	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs56274526	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs56853113	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs59839931	0.86[ASN][1000 genomes]
rs60683539	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61264007	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6462070	0.87[ASN][1000 genomes]
rs6959573	0.93[ASW][hapmap];0.84[CHD][hapmap];0.90[JPT][hapmap];0.91[LWK][hapmap];0.81[YRI][hapmap];0.84[ASN][1000 genomes]
rs6978143	0.86[CHB][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs73036731	0.97[ASN][1000 genomes]
rs7459157	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7788172	0.89[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7796564	0.86[CHB][hapmap]
rs7798732	1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7799163	0.89[JPT][hapmap]
rs7801995	0.95[ASN][1000 genomes]
rs7807993	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7809116	0.92[CEU][hapmap];0.81[YRI][hapmap];0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7810155	1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs9691979	0.81[CEU][hapmap];0.80[MEX][hapmap]
rs9942558	0.85[CEU][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018173	chr7:3258989-3879848	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv538660	chr7:3258989-3879848	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv2758100	chr7:3286625-3560229	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv2759500	chr7:3286625-3560229	Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1016555	chr7:3298478-3872512	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv538661	chr7:3298478-3872512	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1019515	chr7:3300048-3479972	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1020764	chr7:3348458-3554820	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv538662	chr7:3348458-3554820	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv1019492	chr7:3359294-3479972	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv538663	chr7:3359294-3479972	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv1030484	chr7:3364990-3506102	Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	esv2764026	chr7:3365002-3618361	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv1018105	chr7:3365441-3506102	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
15	nsv1026361	chr7:3366960-3502600	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
16	nsv538664	chr7:3366960-3502600	Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
17	nsv605893	chr7:3368197-3505231	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
18	nsv1015296	chr7:3381813-3560401	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
19	nsv1033743	chr7:3395234-3494122	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
20	nsv1022859	chr7:3404736-3479972	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
21	nsv1029937	chr7:3408050-3506316	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
22	nsv538668	chr7:3408050-3506316	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
23	nsv1016575	chr7:3411358-3479972	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
24	nsv916071	chr7:3423207-3697428	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
25	nsv887329	chr7:3424878-3490865	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
26	nsv887330	chr7:3424878-3515437	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
27	nsv605901	chr7:3445311-3479432	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
28	nsv528715	chr7:3451251-3598581	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
29	nsv887332	chr7:3455249-3521000	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
30	nsv605902	chr7:3464896-3598581	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
31	nsv605903	chr7:3472721-3527925	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
32	nsv887333	chr7:3475716-3542488	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3468800-3482400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr7:3470400-3482800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr7:3477000-3479600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr7:3477000-3480200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr7:3477600-3479600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr7:3477600-3479600	Enhancers	HUVEC	blood vessel
7	chr7:3477800-3480000	Enhancers	NHDF-Ad	bronchial
8	chr7:3478000-3480000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr7:3478200-3480000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr7:3478200-3480000	Enhancers	HMEC	breast
11	chr7:3478600-3479800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr7:3478800-3479600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr7:3478800-3479800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr7:3478800-3479800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr7:3478800-3480200	Enhancers	Hela-S3	cervix
16	chr7:3479000-3479600	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr7:3479000-3479600	Enhancers	Adipose Nuclei	Adipose
18	chr7:3479200-3479600	Flanking Active TSS	HSMMtube	muscle
19	chr7:3479200-3480000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
20	chr7:3479200-3480000	Enhancers	A549	lung
21	chr7:3479200-3480000	Enhancers	HSMM	muscle
22	chr7:3479200-3481200	Weak transcription	Fetal Heart	heart
23	chr7:3479400-3479600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr7:3479400-3479600	Enhancers	NH-A	brain
25	chr7:3479400-3479600	Flanking Active TSS	NHEK	skin
26	chr7:3479400-3480200	Enhancers	Right Ventricle	heart
27	chr7:3479400-3480600	Enhancers	Left Ventricle	heart
28	chr7:3479400-3484400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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