Variant report

Variant	rs971290
Chromosome Location	chr14:69271969-69271970
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:69270505..69278428-chr14:69279681..69285729,13	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10139199	1.00[ASN][1000 genomes]
rs1051533	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11847049	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11851414	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12147199	1.00[ASN][1000 genomes]
rs12147461	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1274955	1.00[ASN][1000 genomes]
rs1898320	1.00[ASN][1000 genomes]
rs194713	1.00[ASN][1000 genomes]
rs194743	1.00[ASN][1000 genomes]
rs2164627	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4899260	1.00[ASN][1000 genomes]
rs4899262	1.00[ASN][1000 genomes]
rs4902649	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902652	1.00[ASN][1000 genomes]
rs55885232	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56020080	1.00[ASN][1000 genomes]
rs56119720	1.00[ASN][1000 genomes]
rs57786342	0.80[AMR][1000 genomes]
rs58638884	1.00[ASN][1000 genomes]
rs72731537	1.00[ASN][1000 genomes]
rs72731539	1.00[ASN][1000 genomes]
rs72731544	1.00[ASN][1000 genomes]
rs72731547	1.00[ASN][1000 genomes]
rs72731549	1.00[ASN][1000 genomes]
rs72731550	1.00[ASN][1000 genomes]
rs72731551	1.00[ASN][1000 genomes]
rs72731554	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72731564	0.86[EUR][1000 genomes]
rs72731565	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72731567	1.00[ASN][1000 genomes]
rs72731576	1.00[ASN][1000 genomes]
rs72731577	1.00[ASN][1000 genomes]
rs72731579	1.00[ASN][1000 genomes]
rs72731581	1.00[ASN][1000 genomes]
rs8019383	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035267	chr14:69230254-69348126	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
2	nsv542123	chr14:69230254-69348126	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
3	nsv902070	chr14:69244214-69308182	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69263200-69273000	Weak transcription	Ovary	ovary
2	chr14:69263200-69273200	Weak transcription	HSMM	muscle
3	chr14:69263600-69273200	Weak transcription	NH-A	brain
4	chr14:69264200-69273200	Weak transcription	Right Atrium	heart
5	chr14:69264200-69273600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr14:69264200-69277800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr14:69264400-69272600	Weak transcription	HSMMtube	muscle
8	chr14:69264400-69281200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr14:69264800-69272200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr14:69264800-69273200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr14:69268000-69273200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr14:69269000-69273200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr14:69269200-69273400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr14:69269800-69273200	Weak transcription	Lung	lung
15	chr14:69271000-69272200	Enhancers	Primary B cells from peripheral blood	blood
16	chr14:69271200-69272000	Enhancers	Primary B cells from cord blood	blood
17	chr14:69271400-69273400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr14:69271400-69277000	Enhancers	Colon Smooth Muscle	Colon
19	chr14:69271600-69273400	Enhancers	Stomach Smooth Muscle	stomach
20	chr14:69271600-69281200	Enhancers	Fetal Muscle Leg	muscle
21	chr14:69271600-69281200	Enhancers	Fetal Stomach	stomach
22	chr14:69271800-69272000	Enhancers	Duodenum Mucosa	Duodenum
23	chr14:69271800-69273200	Enhancers	Rectal Smooth Muscle	rectum
24	chr14:69271800-69275600	Enhancers	Duodenum Smooth Muscle	Duodenum
25	chr14:69271800-69277200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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