Variant report

Variant	rs45527431
Chromosome Location	chr6:26599509-26599510
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:26123945..26125914-chr6:26596676..26599538,2	MCF-7	breast:
2	chr6:26594524..26600977-chr6:27096034..27104390,19	K562	blood:
3	chr6:26597702..26602573-chr6:27112472..27116781,7	MCF-7	breast:
4	chr6:26330749..26333675-chr6:26599169..26602051,2	K562	blood:
5	chr6:26198217..26201079-chr6:26599187..26601123,2	K562	blood:
6	chr6:26593362..26600987-chr6:27097692..27106488,18	K562	blood:
7	chr6:26595623..26599966-chr6:27100615..27102925,4	MCF-7	breast:
8	chr6:26598518..26601187-chr6:27104748..27107582,2	MCF-7	breast:
9	chr6:26599209..26601665-chr6:27091751..27095909,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000184825	Chromatin interaction
ENSG00000196787	Chromatin interaction
ENSG00000197903	Chromatin interaction
ENSG00000197846	Chromatin interaction
ENSG00000180573	Chromatin interaction
ENSG00000198339	Chromatin interaction
ENSG00000265565	Chromatin interaction
ENSG00000196866	Chromatin interaction
ENSG00000197409	Chromatin interaction
ENSG00000180596	Chromatin interaction
ENSG00000124635	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 15 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs13198716	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13201782	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13212985	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34246779	0.91[AMR][1000 genomes]
rs34781270	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35076545	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35277236	0.91[AMR][1000 genomes]
rs35400317	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35433030	0.91[AMR][1000 genomes]
rs36162392	0.91[AMR][1000 genomes]
rs66488313	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs66941101	0.91[AMR][1000 genomes]
rs67777156	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs71557340	0.91[AMR][1000 genomes]
rs72843784	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs72845428	0.91[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948921	chr6:26556890-27443957	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	472 gene(s)	inside rSNPs	diseases

mRNA abundance (count:15)

SNP	Gene	Cis/trans	Tissue	Source
rs45527431	BTN3A2	Cis_1M	lymphoblastoid	RTeQTL
rs45527431	ZFP57	Cis_chr	lymphoblastoid	RTeQTL
rs45527431	BTN3A2	cis	Artery Aorta	GTEx
rs45527431	BTN3A2///BTN3A3	Cis_1M	lymphoblastoid	RTeQTL
rs45527431	BTN3A2	cis	Heart Left Ventricle	GTEx
rs45527431	BTN3A2	cis	Adipose Subcutaneous	GTEx
rs45527431	BTN3A2	cis	Nerve Tibial	GTEx
rs45527431	BTN3A2	cis	Thyroid	GTEx
rs45527431	BTN3A2	cis	Esophagus Mucosa	GTEx
rs45527431	BTN3A2	cis	Muscle Skeletal	GTEx
rs45527431	BTN3A2	cis	Esophagus Muscularis	GTEx
rs45527431	BTN3A2	cis	lung	GTEx
rs45527431	BTN3A2	cis	Artery Tibial	GTEx
rs45527431	BTN3A2	cis	Skin Sun Exposed Lower leg	GTEx
rs45527431	BTN3A2	cis	Whole Blood	GTEx

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:26598000-26604800	Weak transcription	Aorta	Aorta
2	chr6:26598000-26606800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr6:26598200-26607800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr6:26598400-26600000	Strong transcription	Fetal Stomach	stomach
5	chr6:26598400-26600200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr6:26598400-26600200	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr6:26598400-26600400	Strong transcription	HUES6 Cell Line	embryonic stem cell
8	chr6:26598400-26600400	Strong transcription	A549	lung
9	chr6:26598400-26600600	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr6:26598400-26601000	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr6:26598400-26601200	Strong transcription	Rectal Mucosa Donor 29	rectum
12	chr6:26598600-26599600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
13	chr6:26598600-26599600	Strong transcription	Colonic Mucosa	Colon
14	chr6:26598600-26599800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr6:26598600-26599800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
16	chr6:26598600-26600000	Strong transcription	H1 Cell Line	embryonic stem cell
17	chr6:26598600-26600000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr6:26598600-26600000	Strong transcription	HSMMtube	muscle
19	chr6:26598600-26600000	Strong transcription	HUVEC	blood vessel
20	chr6:26598600-26600000	Strong transcription	NHLF	lung
21	chr6:26598600-26600200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
22	chr6:26598600-26600200	Strong transcription	Brain Angular Gyrus	brain
23	chr6:26598600-26600200	Strong transcription	Sigmoid Colon	Sigmoid Colon
24	chr6:26598600-26600400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr6:26598600-26600400	Strong transcription	Colon Smooth Muscle	Colon
26	chr6:26598600-26600400	Strong transcription	Ovary	ovary
27	chr6:26598600-26600600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr6:26598600-26600600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr6:26598600-26600600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr6:26598600-26600600	Strong transcription	Rectal Mucosa Donor 31	rectum
31	chr6:26598600-26600800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr6:26598600-26600800	Strong transcription	Cortex derived primary cultured neurospheres	brain
33	chr6:26598600-26600800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr6:26598600-26600800	Strong transcription	Adipose Nuclei	Adipose
35	chr6:26598600-26600800	Strong transcription	Brain Anterior Caudate	brain
36	chr6:26598600-26600800	Strong transcription	Brain Cingulate Gyrus	brain
37	chr6:26598600-26600800	Strong transcription	Brain Inferior Temporal Lobe	brain
38	chr6:26598600-26600800	Strong transcription	Duodenum Mucosa	Duodenum
39	chr6:26598600-26600800	Strong transcription	Duodenum Smooth Muscle	Duodenum
40	chr6:26598600-26600800	Strong transcription	Fetal Intestine Large	intestine
41	chr6:26598600-26600800	Strong transcription	Fetal Muscle Leg	muscle
42	chr6:26598600-26600800	Strong transcription	Rectal Smooth Muscle	rectum
43	chr6:26598600-26600800	Strong transcription	K562	blood
44	chr6:26598600-26600800	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr6:26598600-26601000	Strong transcription	Stomach Smooth Muscle	stomach
46	chr6:26598600-26601200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr6:26598600-26601200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr6:26598600-26601200	Strong transcription	Brain Substantia Nigra	brain
49	chr6:26598600-26601200	Strong transcription	Fetal Lung	lung
50	chr6:26598600-26601200	Strong transcription	NHEK	skin

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