Variant report

Variant	rs11945713
Chromosome Location	chr4:99439941-99439942
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10516433	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10516434	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1554849	0.81[ASN][1000 genomes]
rs17498778	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17499015	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17564872	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17564998	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4699645	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56221164	1.00[ASN][1000 genomes]
rs59150136	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60026821	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60947018	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6532740	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6532746	0.90[ASN][1000 genomes]
rs6817773	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6830136	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6840239	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6840610	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6846101	0.90[ASN][1000 genomes]
rs6853079	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7667608	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7676155	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7688849	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7689116	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7689289	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9761395	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529623	chr4:98501338-99460166	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	esv2754250	chr4:99094922-99527122	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats 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	20 gene(s)	inside rSNPs	diseases
3	nsv879651	chr4:99105055-99441349	Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv1004181	chr4:99208152-99529576	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99431200-99443600	Weak transcription	Fetal Brain Male	brain
2	chr4:99433000-99443200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr4:99434000-99441600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr4:99434200-99440000	Enhancers	NHEK	skin
5	chr4:99434400-99443800	Weak transcription	Aorta	Aorta
6	chr4:99435600-99440800	Enhancers	Brain Hippocampus Middle	brain
7	chr4:99435600-99441800	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr4:99436200-99440200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr4:99436200-99441800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr4:99436200-99441800	Enhancers	NHDF-Ad	bronchial
11	chr4:99436400-99440400	Enhancers	HUVEC	blood vessel
12	chr4:99436400-99440800	Enhancers	Fetal Stomach	stomach
13	chr4:99436600-99441400	Enhancers	NHLF	lung
14	chr4:99436600-99443600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr4:99436600-99446400	Weak transcription	Left Ventricle	heart
16	chr4:99437000-99441400	Enhancers	Brain Cingulate Gyrus	brain
17	chr4:99437200-99440000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr4:99437200-99440800	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr4:99437200-99443400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr4:99437400-99440000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr4:99437600-99440000	Enhancers	A549	lung
22	chr4:99438000-99441800	Enhancers	Osteobl	bone
23	chr4:99438000-99442600	Weak transcription	Dnd41	blood
24	chr4:99438400-99441200	Enhancers	Brain Anterior Caudate	brain
25	chr4:99438400-99443200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr4:99438600-99440200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr4:99438600-99440200	Weak transcription	Thymus	Thymus
28	chr4:99438600-99440400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr4:99438600-99440400	Enhancers	Brain Substantia Nigra	brain
30	chr4:99438600-99441400	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr4:99438600-99441600	Enhancers	Brain Angular Gyrus	brain
32	chr4:99438800-99440000	Weak transcription	HSMM	muscle
33	chr4:99438800-99441000	Weak transcription	Right Ventricle	heart
34	chr4:99438800-99443400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr4:99438800-99452000	Enhancers	Fetal Heart	heart
36	chr4:99439000-99441600	Enhancers	Muscle Satellite Cultured Cells	--
37	chr4:99439000-99442600	Weak transcription	HMEC	breast
38	chr4:99439000-99442800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr4:99439000-99443200	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr4:99439200-99441200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr4:99439200-99441400	Enhancers	Primary B cells from peripheral blood	blood
42	chr4:99439200-99441600	Enhancers	Fetal Lung	lung
43	chr4:99439200-99441800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr4:99439200-99442400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr4:99439200-99442600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr4:99439200-99442600	Weak transcription	Rectal Smooth Muscle	rectum
47	chr4:99439200-99443200	Enhancers	NH-A	brain
48	chr4:99439400-99440200	Enhancers	H1 Cell Line	embryonic stem cell
49	chr4:99439400-99440200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr4:99439400-99440400	Enhancers	GM12878-XiMat	blood

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