Variant report

Variant	rs6808215
Chromosome Location	chr3:139396162-139396163
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:139395742..139397404-chr3:139400797..139402363,2	K562	blood:

Variant related genes	Relation type
ENSG00000261763	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10935341	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12186041	1.00[ASN][1000 genomes]
rs12632145	0.90[ASN][1000 genomes]
rs12634170	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13074121	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16849303	0.97[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16849305	0.97[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16849307	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16849309	0.98[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35449667	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35657101	0.98[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3922940	1.00[ASN][1000 genomes]
rs4474999	0.84[ASN][1000 genomes]
rs4518082	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4535184	1.00[ASN][1000 genomes]
rs4549242	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4615039	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56711752	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57304307	1.00[ASN][1000 genomes]
rs59476496	0.94[ASN][1000 genomes]
rs62270189	0.90[ASN][1000 genomes]
rs62270193	0.90[ASN][1000 genomes]
rs62273120	0.97[ASN][1000 genomes]
rs62273121	0.97[ASN][1000 genomes]
rs62273122	0.94[ASN][1000 genomes]
rs71627866	0.87[ASN][1000 genomes]
rs7617537	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7636269	1.00[ASN][1000 genomes]
rs7651551	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9289581	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9810042	0.98[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9810049	0.98[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9815708	0.98[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9833539	0.98[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9836944	0.87[ASN][1000 genomes]
rs9848375	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9865942	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9871543	0.98[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9878498	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003154	chr3:139060841-139788752	ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv536729	chr3:139060841-139788752	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv916193	chr3:139187767-139821526	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv530058	chr3:139243971-139814419	Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	esv3431059	chr3:139395962-139398210	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6808215	NMNAT3	cis	Esophagus Muscularis	GTEx

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:139393400-139396200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr3:139394600-139396200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr3:139395200-139396200	Enhancers	Spleen	Spleen
4	chr3:139395200-139396800	Enhancers	Fetal Brain Male	brain
5	chr3:139395400-139396400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr3:139395400-139396400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
7	chr3:139395600-139396200	Flanking Active TSS	Fetal Intestine Small	intestine
8	chr3:139395600-139396200	Enhancers	Gastric	stomach
9	chr3:139395600-139396400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
10	chr3:139395600-139396400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr3:139395600-139396400	Flanking Active TSS	Duodenum Mucosa	Duodenum
12	chr3:139395600-139396400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
13	chr3:139395600-139396400	Flanking Active TSS	K562	blood
14	chr3:139395600-139397200	Active TSS	Primary T cells from cord blood	blood
15	chr3:139395600-139397200	Active TSS	Fetal Kidney	kidney
16	chr3:139395600-139397200	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr3:139395800-139396200	Active TSS	Brain Germinal Matrix	brain
18	chr3:139395800-139396200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
19	chr3:139395800-139396200	Flanking Active TSS	Fetal Intestine Large	intestine
20	chr3:139395800-139396400	Flanking Active TSS	Brain Angular Gyrus	brain
21	chr3:139395800-139396400	Flanking Active TSS	Brain Anterior Caudate	brain
22	chr3:139395800-139396400	Flanking Active TSS	Brain Hippocampus Middle	brain
23	chr3:139395800-139396400	Flanking Active TSS	Colon Smooth Muscle	Colon
24	chr3:139395800-139396400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
25	chr3:139395800-139396400	Flanking Active TSS	Rectal Smooth Muscle	rectum
26	chr3:139395800-139396400	Flanking Active TSS	HepG2	liver
27	chr3:139395800-139396600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
28	chr3:139395800-139396600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
29	chr3:139395800-139396600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr3:139395800-139396800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr3:139395800-139396800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr3:139395800-139397200	Active TSS	Ovary	ovary
33	chr3:139395800-139397400	Active TSS	Brain Cingulate Gyrus	brain
34	chr3:139395800-139397400	Active TSS	Right Atrium	heart
35	chr3:139395800-139397800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
36	chr3:139396000-139396200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
37	chr3:139396000-139396200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
38	chr3:139396000-139396200	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr3:139396000-139396200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr3:139396000-139396200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
41	chr3:139396000-139396200	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
42	chr3:139396000-139396200	Active TSS	Primary B cells from cord blood	blood
43	chr3:139396000-139396200	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
44	chr3:139396000-139396200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr3:139396000-139396200	Flanking Active TSS	Brain Substantia Nigra	brain
46	chr3:139396000-139396200	Flanking Active TSS	Esophagus	oesophagus
47	chr3:139396000-139396200	Flanking Active TSS	Fetal Heart	heart
48	chr3:139396000-139396200	Flanking Bivalent TSS/Enh	Placenta	Placenta
49	chr3:139396000-139396200	Enhancers	Lung	lung
50	chr3:139396000-139396200	Flanking Active TSS	Psoas Muscle	Psoas

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