Variant report

Variant	rs6925226
Chromosome Location	chr6:27115786-27115787
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:97)
CpG islands
(count:0)
Chromatin interactive
region (count:94)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:97 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:27112994-27115930	HUVEC	blood vessel:	n/a	n/a
2	SMARCB1	chr6:27114799-27115923	Hela-S3	cervix:	n/a	n/a
3	MTA3	chr6:27112914-27115851	GM12878	blood:	n/a	n/a
4	POLR2A	chr6:27112296-27116595	MCF-7	breast:	n/a	n/a
5	POLR2A	chr6:27113092-27115940	GM18526	blood:	n/a	n/a
6	CBX3	chr6:27112933-27116168	K562	blood:	n/a	n/a
7	POLR2A	chr6:27113383-27116004	MCF-7	breast:	n/a	n/a
8	TAF7	chr6:27112426-27116271	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr6:27113119-27115923	GM12892	blood:	n/a	n/a
10	HEY1	chr6:27111666-27117414	K562	blood:	n/a	chr6:27114729-27114738 chr6:27114727-27114736
11	POLR2A	chr6:27108716-27116550	K562	blood:	n/a	n/a
12	POLR2A	chr6:27112902-27116140	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr6:27112962-27115844	SK-N-SH	brain:	n/a	n/a
14	POLR2A	chr6:27108688-27117341	K562	blood:	n/a	n/a
15	CEBPD	chr6:27114478-27116666	K562	blood:	n/a	n/a
16	TBL1XR1	chr6:27114514-27116593	K562	blood:	n/a	n/a
17	POLR2A	chr6:27113035-27116194	GM12892	blood:	n/a	n/a
18	ZNF384	chr6:27114559-27115825	K562	blood:	n/a	n/a
19	POLR2A	chr6:27108720-27117432	K562	blood:	n/a	n/a
20	POLR2A	chr6:27112514-27115958	GM12892	blood:	n/a	n/a
21	POLR2A	chr6:27113046-27116306	MCF10A-Er-Src	breast:	n/a	n/a
22	CHD1	chr6:27112348-27115979	H1-hESC	embryonic stem cell:	n/a	chr6:27114859-27114866
23	POLR2A	chr6:27111201-27116564	K562	blood:	n/a	n/a
24	POLR2A	chr6:27113205-27115836	GM12878	blood:	n/a	n/a
25	POLR2A	chr6:27114522-27116305	HL-60	blood:	n/a	n/a
26	POLR2A	chr6:27112486-27116616	H1-hESC	embryonic stem cell:	n/a	n/a
27	YY1	chr6:27115551-27115876	K562	blood:	n/a	n/a
28	POLR2A	chr6:27112870-27116452	PANC-1	pancreas:	n/a	n/a
29	POLR2A	chr6:27112993-27115939	GM18951	blood:	n/a	n/a
30	POLR2A	chr6:27112435-27116292	GM12878	blood:	n/a	n/a
31	POLR2A	chr6:27113474-27115845	GM10847	blood:	n/a	n/a
32	POLR2A	chr6:27108730-27116101	K562	blood:	n/a	n/a
33	HEY1	chr6:27112877-27116585	K562	blood:	n/a	chr6:27114729-27114738 chr6:27114727-27114736
34	POLR2A	chr6:27112966-27116142	HUVEC	blood vessel:	n/a	n/a
35	MXI1	chr6:27112308-27116246	SK-N-SH	brain:	n/a	n/a
36	POLR2A	chr6:27113136-27115818	HCT-116	colon:	n/a	n/a
37	POLR2A	chr6:27113048-27115835	GM12878	blood:	n/a	n/a
38	POLR2A	chr6:27112588-27116466	K562	blood:	n/a	n/a
39	POLR2A	chr6:27113077-27115907	GM12891	blood:	n/a	n/a
40	POLR2A	chr6:27112315-27116528	K562	blood:	n/a	n/a
41	POLR2A	chr6:27112886-27116176	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr6:27115598-27115791	A549	lung:	n/a	n/a
43	PML	chr6:27112903-27115923	GM12878	blood:	n/a	chr6:27115356-27115364
44	POLR2A	chr6:27113122-27115943	GM19193	blood:	n/a	n/a
45	POLR2A	chr6:27112265-27116496	Hela-S3	cervix:	n/a	n/a
46	POLR2A	chr6:27113445-27115810	A549	lung:	n/a	n/a
47	BCLAF1	chr6:27112261-27117279	K562	blood:	n/a	chr6:27116085-27116094
48	POLR2A	chr6:27114421-27115815	HCT-116	colon:	n/a	n/a
49	POLR2A	chr6:27113196-27115806	HEK293	kidney:	n/a	n/a
50	POLR2A	chr6:27111801-27116528	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:94 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr6:27112142..27119511-chr6:27439134..27442830,9	K562	blood:
2	chr6:27114807..27116319-chr6:34202953..34205471,2	K562	blood:
3	chr6:27113785..27116304-chr6:27356399..27358052,2	K562	blood:
4	chr6:26197678..26199478-chr6:27113722..27116433,2	MCF-7	breast:
5	chr17:56409173..56411263-chr6:27115051..27117528,3	K562	blood:
6	chr6:26121790..26128581-chr6:27110404..27116881,10	MCF-7	breast:
7	chr6:27113113..27117592-chr6:27831181..27837403,7	MCF-7	breast:
8	chr6:27114670..27118026-chr6:27440668..27442830,6	K562	blood:
9	chr3:50335266..50337009-chr6:27114656..27117147,2	K562	blood:
10	chr6:26187666..26189518-chr6:27113172..27116022,2	K562	blood:
11	chr6:26155614..26159084-chr6:27112937..27118010,8	K562	blood:
12	chr6:26284926..26288844-chr6:27112544..27117256,7	MCF-7	breast:
13	chr6:27094943..27118570-chr6:27854106..27868030,101	K562	blood:
14	chr6:26030074..26034864-chr6:27112849..27118591,14	K562	blood:
15	chr13:91999950..92001498-chr6:27113724..27116525,2	K562	blood:
16	chr6:26203848..26208105-chr6:27113189..27116345,6	MCF-7	breast:
17	chr6:27115470..27118070-chr6:27629887..27631658,2	K562	blood:
18	chr6:26249395..26251593-chr6:27113655..27116155,2	MCF-7	breast:
19	chr6:27115433..27117508-chr6:27144247..27145795,2	MCF-7	breast:
20	chr6:26212513..26218940-chr6:27112008..27117016,14	K562	blood:
21	chr6:26120836..26126141-chr6:27110374..27116911,13	K562	blood:
22	chr6:27111360..27127716-chr6:27768319..27787545,69	MCF-7	breast:
23	chr6:26029648..26033370-chr6:27113347..27116266,3	MCF-7	breast:
24	chr6:26021018..26024759-chr6:27113066..27116254,4	K562	blood:
25	chr6:27114514..27116900-chr9:110249066..110251372,2	MCF-7	breast:
26	chr6:27093465..27120217-chr6:27768366..27817187,256	K562	blood:
27	chr6:26202461..26206307-chr6:27111685..27116147,8	K562	blood:
28	chr6:26060606..26062295-chr6:27115552..27118165,2	K562	blood:
29	chr6:26044121..26047112-chr6:27113025..27116157,4	MCF-7	breast:
30	chr6:27113591..27118417-chr6:27832860..27835856,7	K562	blood:
31	chr6:27112528..27118803-chr6:27787647..27794623,16	K562	blood:
32	chr3:73160023..73161548-chr6:27114345..27116488,2	K562	blood:
33	chr20:34823014..34825715-chr6:27114725..27117070,2	MCF-7	breast:
34	chr6:26985479..26987950-chr6:27115470..27119189,3	K562	blood:
35	chr1:45285229..45287089-chr6:27114044..27115852,2	K562	blood:
36	chr6:27115418..27117818-chr6:27255558..27257990,3	K562	blood:
37	chr6:26283501..26289776-chr6:27108470..27116413,14	K562	blood:
38	chr21:34907946..34910878-chr6:27115631..27117643,2	K562	blood:
39	chr11:576162..578004-chr6:27113997..27116117,2	K562	blood:
40	chr6:26054867..26057868-chr6:27113403..27117423,5	K562	blood:
41	chr6:27113131..27119021-chr6:27794877..27801018,12	K562	blood:
42	chr6:26196234..26202173-chr6:27109710..27116918,20	K562	blood:
43	chr6:27113200..27117534-chr6:27802228..27806893,11	MCF-7	breast:
44	chr6:27113081..27116777-chr6:27832860..27836046,4	K562	blood:
45	chr1:145381347..145383315-chr6:27115404..27118202,2	K562	blood:
46	chr6:27114804..27117756-chr6:27356552..27360776,4	K562	blood:
47	chr6:26199734..26202965-chr6:27114829..27116362,3	MCF-7	breast:
48	chr6:26215418..26221672-chr6:27112268..27118117,18	K562	blood:
49	chr6:26025629..26034912-chr6:27111740..27118591,16	K562	blood:
50	chr6:26251055..26254665-chr6:27113819..27116327,4	MCF-7	breast:

No data

Variant related genes	Relation type
HIST1H2BK	TF binding region
ENSG00000212195	Chromatin interaction
ENSG00000111678	Chromatin interaction
ENSG00000235374	Chromatin interaction
ENSG00000196747	Chromatin interaction
ENSG00000180596	Chromatin interaction
ENSG00000125954	Chromatin interaction
ENSG00000198366	Chromatin interaction
ENSG00000112812	Chromatin interaction
ENSG00000233822	Chromatin interaction
ENSG00000137309	Chromatin interaction
ENSG00000168242	Chromatin interaction
ENSG00000258289	Chromatin interaction
ENSG00000188987	Chromatin interaction
ENSG00000180573	Chromatin interaction
ENSG00000197279	Chromatin interaction
ENSG00000234816	Chromatin interaction
ENSG00000265206	Chromatin interaction
ENSG00000198518	Chromatin interaction
ENSG00000124693	Chromatin interaction
ENSG00000187990	Chromatin interaction
ENSG00000124613	Chromatin interaction
ENSG00000186792	Chromatin interaction
ENSG00000243477	Chromatin interaction
ENSG00000201558	Chromatin interaction
ENSG00000185130	Chromatin interaction
ENSG00000184270	Chromatin interaction
ENSG00000217646	Chromatin interaction
ENSG00000184348	Chromatin interaction
ENSG00000184678	Chromatin interaction
ENSG00000158553	Chromatin interaction
ENSG00000198327	Chromatin interaction
ENSG00000143933	Chromatin interaction
ENSG00000182611	Chromatin interaction
ENSG00000197846	Chromatin interaction
ENSG00000196866	Chromatin interaction
ENSG00000096654	Chromatin interaction
ENSG00000184260	Chromatin interaction
ENSG00000233224	Chromatin interaction
ENSG00000197238	Chromatin interaction
ENSG00000272009	Chromatin interaction
ENSG00000137259	Chromatin interaction
ENSG00000272173	Chromatin interaction
ENSG00000139832	Chromatin interaction
ENSG00000178096	Chromatin interaction
ENSG00000070047	Chromatin interaction
ENSG00000197153	Chromatin interaction
ENSG00000223247	Chromatin interaction
ENSG00000202077	Chromatin interaction
ENSG00000256018	Chromatin interaction
ENSG00000158373	Chromatin interaction
ENSG00000215417	Chromatin interaction
ENSG00000199004	Chromatin interaction
ENSG00000136826	Chromatin interaction
ENSG00000085433	Chromatin interaction
ENSG00000218690	Chromatin interaction
ENSG00000103152	Chromatin interaction
ENSG00000217862	Chromatin interaction
ENSG00000238610	Chromatin interaction
ENSG00000203813	Chromatin interaction
ENSG00000196532	Chromatin interaction
ENSG00000216331	Chromatin interaction
ENSG00000197914	Chromatin interaction
ENSG00000196176	Chromatin interaction
ENSG00000197409	Chromatin interaction
ENSG00000198374	Chromatin interaction
ENSG00000146109	Chromatin interaction
ENSG00000197459	Chromatin interaction
ENSG00000196374	Chromatin interaction
ENSG00000202444	Chromatin interaction
ENSG00000124529	Chromatin interaction
ENSG00000158406	Chromatin interaction
ENSG00000196331	Chromatin interaction
ENSG00000197061	Chromatin interaction
ENSG00000131043	Chromatin interaction
ENSG00000184357	Chromatin interaction
ENSG00000168298	Chromatin interaction
ENSG00000256316	Chromatin interaction
ENSG00000220875	Chromatin interaction
ENSG00000233396	Chromatin interaction
ENSG00000196235	Chromatin interaction
ENSG00000217275	Chromatin interaction
ENSG00000168274	Chromatin interaction
ENSG00000238923	Chromatin interaction
ENSG00000105193	Chromatin interaction
ENSG00000197381	Chromatin interaction
ENSG00000187837	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1028308	0.88[EUR][1000 genomes]
rs2022272	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4713069	0.81[ASN][1000 genomes]
rs6456766	0.81[EUR][1000 genomes]
rs6921388	0.87[EUR][1000 genomes]
rs7744759	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7764984	0.80[EUR][1000 genomes]
rs858964	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9295730	0.88[EUR][1000 genomes]
rs9348750	0.83[EUR][1000 genomes]
rs9348751	0.84[EUR][1000 genomes]
rs9379960	0.92[EUR][1000 genomes]
rs9393790	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9393791	0.87[EUR][1000 genomes]
rs9461335	0.87[EUR][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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6925226	BTN3A2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27111200-27116000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr6:27111400-27116000	Active TSS	H9 Cell Line	embryonic stem cell
3	chr6:27111400-27116800	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr6:27111800-27116000	Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr6:27112000-27115800	Active TSS	Duodenum Mucosa	Duodenum
6	chr6:27112200-27115800	Active TSS	Fetal Intestine Large	intestine
7	chr6:27112200-27116000	Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr6:27112200-27116000	Active TSS	A549	lung
9	chr6:27112200-27116200	Active TSS	H1 Cell Line	embryonic stem cell
10	chr6:27112400-27115800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr6:27112400-27115800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr6:27112400-27116000	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr6:27112400-27116000	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr6:27112400-27116000	Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr6:27112400-27116000	Active TSS	iPS-18 Cell Line	embryonic stem cell
16	chr6:27112400-27116200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr6:27112400-27116400	Active TSS	HUES64 Cell Line	embryonic stem cell
18	chr6:27112600-27115800	Active TSS	Fetal Intestine Small	intestine
19	chr6:27112600-27115800	Active TSS	Fetal Kidney	kidney
20	chr6:27112800-27115800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr6:27112800-27115800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr6:27112800-27115800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr6:27112800-27115800	Active TSS	Fetal Stomach	stomach
24	chr6:27113000-27115800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr6:27113000-27115800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr6:27113000-27116000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr6:27113200-27116000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr6:27113200-27116000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr6:27113200-27116200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
30	chr6:27113400-27115800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr6:27113600-27115800	Active TSS	Rectal Mucosa Donor 29	rectum
32	chr6:27113600-27116000	Active TSS	Brain Hippocampus Middle	brain
33	chr6:27113600-27116200	Active TSS	Cortex derived primary cultured neurospheres	brain
34	chr6:27113800-27115800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr6:27113800-27115800	Active TSS	Brain Germinal Matrix	brain
36	chr6:27113800-27116000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr6:27114000-27116000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr6:27114000-27116000	Active TSS	K562	blood
39	chr6:27114800-27115800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr6:27115000-27115800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
41	chr6:27115000-27115800	Flanking Active TSS	Fetal Muscle Leg	muscle
42	chr6:27115000-27115800	Flanking Active TSS	HMEC	breast
43	chr6:27115200-27116000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr6:27115200-27116000	Flanking Active TSS	Hela-S3	cervix
45	chr6:27115200-27116200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
46	chr6:27115400-27115800	Active TSS	Fetal Muscle Trunk	muscle
47	chr6:27115400-27115800	Active TSS	Dnd41	blood
48	chr6:27115400-27116000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr6:27115600-27115800	Enhancers	Primary monocytes fromperipheralblood	blood
50	chr6:27115600-27115800	Enhancers	Fetal Lung	lung

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