Variant report

Variant	rs926300
Chromosome Location	chr6:27059443-27059444
allele	A/T
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:27057895..27061328-chr6:27066502..27071187,4	K562	blood:
2	chr6:27047664..27051743-chr6:27057948..27059830,3	K562	blood:
3	chr6:27058692..27062326-chr6:27090453..27093462,4	K562	blood:
4	chr6:26987792..26989397-chr6:27058823..27061431,2	K562	blood:
5	chr6:27058371..27061337-chr6:27088383..27090368,3	K562	blood:
6	chr6:27058239..27061068-chr6:27078471..27081139,3	K562	blood:
7	chr6:27059053..27062446-chr6:27100133..27102654,3	K562	blood:
8	chr6:26563515..26565648-chr6:27059031..27061634,2	K562	blood:
9	chr6:26569051..26574263-chr6:27058255..27061104,5	K562	blood:
10	chr6:27057693..27062553-chr6:27083380..27087822,4	K562	blood:
11	chr6:26568519..26570551-chr6:27058352..27060839,2	K562	blood:
12	chr6:27059239..27061563-chr6:27114621..27116383,2	K562	blood:
13	chr6:27058956..27061096-chr6:27102965..27105025,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000196787	Chromatin interaction
ENSG00000265565	Chromatin interaction
ENSG00000238621	Chromatin interaction
ENSG00000219770	Chromatin interaction
ENSG00000124635	Chromatin interaction
ENSG00000184825	Chromatin interaction
ENSG00000272468	Chromatin interaction
ENSG00000224843	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs13194053	1.00[CEU][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes]
rs13219181	1.00[CEU][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes]
rs3823427	0.87[YRI][hapmap]
rs4452638	0.85[CEU][hapmap]
rs4713074	0.81[YRI][hapmap]
rs5030956	0.82[YRI][hapmap]
rs61240102	0.85[AMR][1000 genomes]
rs67330695	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6904071	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6913660	1.00[CEU][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72842197	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7759741	0.81[YRI][hapmap]
rs9468015	0.81[YRI][hapmap]

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	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
2	esv2758038	chr6:26695219-27095714	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	67 gene(s)	inside rSNPs	diseases
3	esv2759410	chr6:26695219-27095714	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	67 gene(s)	inside rSNPs	diseases
4	nsv1029124	chr6:26825468-27109774	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	244 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs926300	BTN3A2	Cis_1M	lymphoblastoid	RTeQTL
rs926300	BTN2A1	Cis_1M	lymphoblastoid	RTeQTL
rs926300	BTN3A2///BTN3A3	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27051800-27059600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:27059200-27059600	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr6:27059200-27060400	Active TSS	K562	blood
4	chr6:27059200-27060800	Active TSS	A549	lung
5	chr6:27059400-27059600	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr6:27059400-27059600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr6:27059400-27059600	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr6:27059400-27059600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
9	chr6:27059400-27059600	Enhancers	Placenta	Placenta
10	chr6:27059400-27059600	Active TSS	Right Atrium	heart
11	chr6:27059400-27059600	Enhancers	GM12878-XiMat	blood
12	chr6:27059400-27059800	Active TSS	HUES64 Cell Line	embryonic stem cell
13	chr6:27059400-27059800	Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr6:27059400-27059800	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr6:27059400-27060200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
16	chr6:27059400-27060200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
17	chr6:27059400-27060200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
18	chr6:27059400-27060200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
19	chr6:27059400-27060200	Active TSS	Hela-S3	cervix
20	chr6:27059400-27060400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr6:27059400-27060600	Active TSS	H1 Cell Line	embryonic stem cell
22	chr6:27059400-27060600	Active TSS	H9 Cell Line	embryonic stem cell
23	chr6:27059400-27060600	Active TSS	HUES6 Cell Line	embryonic stem cell

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