Variant report

Variant	rs2499613
Chromosome Location	chr6:114317883-114317884
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs2475617	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2475618	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2475619	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2475620	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2475621	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2475622	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2475623	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2475624	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2475625	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2475626	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2475628	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2499610	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2499611	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2499612	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2499616	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2499620	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3002601	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4296916	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4296917	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4551200	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4945985	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6568821	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6568824	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9320476	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9320477	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9374432	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9398370	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9488300	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9488301	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9488302	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9488303	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9488304	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[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	nsv1021774	chr6:114063971-114407280	Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv538422	chr6:114063971-114407280	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv1024062	chr6:114311029-114679557	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:114309400-114318600	Weak transcription	Right Atrium	heart
2	chr6:114311800-114332400	Weak transcription	Fetal Brain Female	brain
3	chr6:114314600-114331200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr6:114315800-114318600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr6:114316000-114318400	Enhancers	Fetal Muscle Leg	muscle
6	chr6:114316200-114318000	Enhancers	NH-A	brain
7	chr6:114316200-114318400	Enhancers	Adipose Nuclei	Adipose
8	chr6:114316200-114318800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr6:114316200-114318800	Enhancers	Rectal Smooth Muscle	rectum
10	chr6:114316200-114318800	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr6:114316200-114318800	Enhancers	Stomach Smooth Muscle	stomach
12	chr6:114316200-114318800	Enhancers	HMEC	breast
13	chr6:114316200-114319000	Enhancers	NHEK	skin
14	chr6:114316200-114319200	Enhancers	NHLF	lung
15	chr6:114316200-114319200	Enhancers	Osteobl	bone
16	chr6:114316200-114320000	Enhancers	HUVEC	blood vessel
17	chr6:114316400-114318600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr6:114316800-114318000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr6:114317000-114318000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr6:114317000-114318200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr6:114317000-114318200	Enhancers	Fetal Muscle Trunk	muscle
22	chr6:114317000-114318200	Enhancers	Placenta	Placenta
23	chr6:114317000-114319600	Active TSS	HSMMtube	muscle
24	chr6:114317000-114323400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr6:114317200-114318200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr6:114317200-114318200	Weak transcription	Brain Substantia Nigra	brain
27	chr6:114317200-114318200	Weak transcription	Fetal Stomach	stomach
28	chr6:114317200-114318200	Weak transcription	A549	lung
29	chr6:114317200-114318400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr6:114317200-114318600	Enhancers	Colon Smooth Muscle	Colon
31	chr6:114317200-114318600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr6:114317200-114318800	Weak transcription	Brain Cingulate Gyrus	brain
33	chr6:114317200-114318800	Enhancers	Hela-S3	cervix
34	chr6:114317200-114319600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr6:114317200-114319600	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr6:114317200-114320800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr6:114317200-114323000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr6:114317200-114323400	Weak transcription	Brain Germinal Matrix	brain
39	chr6:114317200-114323600	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr6:114317200-114328200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr6:114317400-114318400	Enhancers	NHDF-Ad	bronchial
42	chr6:114317400-114318600	Weak transcription	Brain Angular Gyrus	brain
43	chr6:114317400-114318800	Weak transcription	Brain Anterior Caudate	brain
44	chr6:114317400-114319000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr6:114317400-114321400	Weak transcription	Stomach Mucosa	stomach
46	chr6:114317400-114322000	Enhancers	Brain Hippocampus Middle	brain
47	chr6:114317400-114328400	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr6:114317600-114318000	Weak transcription	Fetal Heart	heart
49	chr6:114317600-114318600	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr6:114317800-114318400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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