Variant report

Variant	rs1883215
Chromosome Location	chr6:26314233-26314234
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:26314124..26316500-chr6:26474166..26476547,2	K562	blood:
2	chr6:26311313..26315619-chr6:26320947..26324621,7	MCF-7	breast:
3	chr6:26311628..26314659-chr6:26531812..26534780,3	K562	blood:
4	chr6:26311604..26315046-chr6:26315358..26318350,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000220875	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10484439	0.85[EUR][1000 genomes]
rs11962660	1.00[ASN][1000 genomes]
rs13220522	0.81[EUR][1000 genomes]
rs34107459	0.81[EUR][1000 genomes]
rs34158769	0.81[EUR][1000 genomes]
rs34569761	0.93[EUR][1000 genomes]
rs35162296	0.81[EUR][1000 genomes]
rs35942569	0.83[EUR][1000 genomes]
rs55706012	0.83[EUR][1000 genomes]
rs6456710	0.82[ASN][1000 genomes]
rs6902389	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6902392	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6903015	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6908156	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6910374	0.89[ASN][1000 genomes]
rs6923139	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6939799	1.00[ASN][1000 genomes]
rs6939978	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7745232	0.89[ASN][1000 genomes]
rs9467699	1.00[ASN][1000 genomes]
rs9467700	1.00[ASN][1000 genomes]
rs9467701	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9467704	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9467707	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9467708	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9467709	1.00[ASN][1000 genomes]
rs9467713	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029920	chr6:25638507-26585842	Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1215 gene(s)	inside rSNPs	diseases
2	nsv538162	chr6:25638507-26585842	Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1215 gene(s)	inside rSNPs	diseases
3	nsv1030351	chr6:25813178-26352046	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1189 gene(s)	inside rSNPs	diseases
4	nsv1023453	chr6:25853830-26528250	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1201 gene(s)	inside rSNPs	diseases
5	nsv428137	chr6:25987413-26351920	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1181 gene(s)	inside rSNPs	diseases
6	nsv1028232	chr6:26005449-26319756	Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1171 gene(s)	inside rSNPs	diseases
7	nsv1015782	chr6:26026870-26323895	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1114 gene(s)	inside rSNPs	diseases
8	nsv1018665	chr6:26026870-26352046	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1116 gene(s)	inside rSNPs	diseases
9	nsv601173	chr6:26239404-26322524	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	184 gene(s)	inside rSNPs	diseases
10	nsv482729	chr6:26291011-26470898	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
11	nsv525347	chr6:26313348-26322985	Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs1883215	BTN3A2///BTN3A3	Cis_1M	lymphoblastoid	RTeQTL
rs1883215	BTN3A2	Cis_1M	lymphoblastoid	RTeQTL
rs1883215	BTN3A2	cis	Whole Blood	GTEx
rs1883215	BTN3A1	Cis_1M	lymphoblastoid	RTeQTL
rs1883215	BTN3A2	cis	Artery Tibial	GTEx
rs1883215	BTN3A2	cis	Thyroid	GTEx

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:26310600-26314400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:26310600-26314400	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr6:26310800-26314400	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr6:26310800-26314600	Active TSS	H1 Cell Line	embryonic stem cell
5	chr6:26311000-26314400	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr6:26311000-26314400	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr6:26311000-26314400	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr6:26311000-26314400	Active TSS	iPS-18 Cell Line	embryonic stem cell
9	chr6:26311000-26314400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr6:26311000-26314400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr6:26311000-26314400	Active TSS	Brain Anterior Caudate	brain
12	chr6:26311000-26314600	Active TSS	H9 Cell Line	embryonic stem cell
13	chr6:26311200-26314400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr6:26311200-26314400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr6:26311200-26314400	Active TSS	A549	lung
16	chr6:26311200-26314600	Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr6:26311200-26314600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr6:26311200-26314600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr6:26311200-26314600	Active TSS	Brain Angular Gyrus	brain
20	chr6:26311400-26314400	Active TSS	NHEK	skin
21	chr6:26311400-26314400	Active TSS	NHLF	lung
22	chr6:26311400-26314600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr6:26311400-26314600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr6:26311400-26314600	Active TSS	K562	blood
25	chr6:26311600-26314400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr6:26311600-26314600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr6:26311800-26314400	Active TSS	Duodenum Mucosa	Duodenum
28	chr6:26311800-26314400	Active TSS	HSMM	muscle
29	chr6:26312000-26314600	Active TSS	GM12878-XiMat	blood
30	chr6:26312600-26314400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr6:26312600-26314400	Active TSS	Fetal Intestine Small	intestine
32	chr6:26312800-26314400	Active TSS	HMEC	breast
33	chr6:26312800-26314600	Active TSS	Hela-S3	cervix
34	chr6:26313000-26314400	Flanking Active TSS	Dnd41	blood
35	chr6:26313400-26314400	Active TSS	Primary T cells from cord blood	blood
36	chr6:26313400-26314400	Active TSS	Cortex derived primary cultured neurospheres	brain
37	chr6:26313600-26314400	Active TSS	Rectal Mucosa Donor 31	rectum
38	chr6:26313800-26314400	Active TSS	HepG2	liver
39	chr6:26314000-26314400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr6:26314000-26314400	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr6:26314000-26314400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
42	chr6:26314000-26314400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
43	chr6:26314000-26319600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr6:26314200-26314400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr6:26314200-26314400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr6:26314200-26314400	Enhancers	Primary B cells from cord blood	blood
47	chr6:26314200-26314400	Enhancers	Primary B cells from peripheral blood	blood
48	chr6:26314200-26314400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
49	chr6:26314200-26314400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr6:26314200-26314400	Enhancers	Primary T helper naive cells from peripheral blood	blood

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