Variant report

Variant	rs7514283
Chromosome Location	chr1:119916426-119916427
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10489812	1.00[CHB][hapmap]
rs10494225	0.91[CEU][hapmap];1.00[CHB][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11580104	1.00[CHB][hapmap]
rs1325751	0.84[ASN][1000 genomes]
rs1341015	1.00[CHB][hapmap]
rs1417607	1.00[CHB][hapmap]
rs1417608	1.00[CHB][hapmap]
rs17023554	0.82[EUR][1000 genomes]
rs1832742	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1856886	1.00[CHB][hapmap];0.92[YRI][hapmap];0.84[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs2275608	1.00[CHB][hapmap];0.83[GIH][hapmap];0.80[MEX][hapmap];0.91[TSI][hapmap];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3753260	1.00[ASW][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];0.92[LWK][hapmap];0.90[MEX][hapmap];0.97[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3753266	1.00[CHB][hapmap];0.87[CHD][hapmap]
rs3765952	0.82[CEU][hapmap]
rs3765956	0.83[CEU][hapmap]
rs4659005	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs5003333	1.00[CHB][hapmap]
rs57519238	0.84[ASN][1000 genomes]
rs58288358	0.84[ASN][1000 genomes]
rs59401382	0.84[ASN][1000 genomes]
rs59944806	0.84[ASN][1000 genomes]
rs6683756	1.00[CHB][hapmap];0.87[CHD][hapmap]
rs72991447	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72994375	0.84[ASN][1000 genomes]
rs72994382	0.84[ASN][1000 genomes]
rs72994399	0.84[ASN][1000 genomes]
rs74114307	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs74114308	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs74114309	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs74114311	0.86[ASN][1000 genomes]
rs74114312	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7529983	1.00[CHB][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7545700	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932014	chr1:119476480-120471049	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS 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	86 gene(s)	inside rSNPs	diseases
2	nsv917091	chr1:119688975-120023222	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	esv34089	chr1:119752112-120072961	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv1000391	chr1:119837978-120287056	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	nsv535077	chr1:119837978-120287056	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	esv2761649	chr1:119840645-119925936	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1004662	chr1:119847447-120154798	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:119912800-119916800	Weak transcription	Fetal Kidney	kidney
2	chr1:119914800-119918200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr1:119915000-119917400	Flanking Active TSS	Liver	Liver
4	chr1:119915200-119917000	Enhancers	Sigmoid Colon	Sigmoid Colon
5	chr1:119915200-119917200	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr1:119915200-119918000	Enhancers	Fetal Intestine Large	intestine
7	chr1:119915400-119916600	Enhancers	Fetal Stomach	stomach
8	chr1:119915400-119917200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:119915400-119917200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:119915400-119917600	Enhancers	HMEC	breast
11	chr1:119915400-119917800	Enhancers	Fetal Intestine Small	intestine
12	chr1:119915600-119916600	Weak transcription	Pancreas	Pancrea
13	chr1:119915600-119916600	Enhancers	A549	lung
14	chr1:119915800-119916800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr1:119915800-119916800	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr1:119915800-119916800	Weak transcription	GM12878-XiMat	blood
17	chr1:119915800-119917400	Enhancers	NHEK	skin
18	chr1:119915800-119917600	Bivalent Enhancer	Primary T cells from cord blood	blood
19	chr1:119916000-119917000	Weak transcription	Fetal Lung	lung
20	chr1:119916000-119917400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr1:119916000-119917800	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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