Variant report

Variant	rs72847349
Chromosome Location	chr6:27805303-27805304
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:371)
CpG islands
(count:0)
Chromatin interactive
region (count:42)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:371 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA1	chr6:27804212-27806599	PBDE	blood:	n/a	chr6:27805618-27805625 chr6:27804482-27804499
2	TCF12	chr6:27805164-27805392	GM12878	blood:	n/a	n/a
3	MAX	chr6:27804629-27806836	GM12878	blood:	n/a	n/a
4	SP1	chr6:27804776-27805760	H1-hESC	embryonic stem cell:	n/a	n/a
5	NRF1	chr6:27804966-27805645	K562	blood:	n/a	chr6:27805223-27805234
6	POLR2A	chr6:27805147-27805526	A549	lung:	n/a	n/a
7	POLR2A	chr6:27804476-27806957	K562	blood:	n/a	n/a
8	CHD2	chr6:27804592-27806567	Hela-S3	cervix:	n/a	chr6:27805473-27805483
9	TBP	chr6:27804791-27805439	GM12878	blood:	n/a	n/a
10	POLR2A	chr6:27804355-27807788	HepG2	liver:	n/a	n/a
11	MAX	chr6:27804904-27805575	SK-N-SH	brain:	n/a	n/a
12	GATA1	chr6:27804834-27805372	PBDEFetal	blood:	n/a	n/a
13	POLR2A	chr6:27804437-27807892	Hela-S3	cervix:	n/a	n/a
14	MYC	chr6:27804819-27805668	MCF10A-Er-Src	breast:	n/a	n/a
15	TAF7	chr6:27804584-27806578	H1-hESC	embryonic stem cell:	n/a	n/a
16	CBX3	chr6:27804462-27806649	K562	blood:	n/a	n/a
17	CHD1	chr6:27804111-27807828	GM12878	blood:	n/a	chr6:27805473-27805483
18	NFATC1	chr6:27804599-27805484	GM12878	blood:	n/a	n/a
19	POLR2A	chr6:27804384-27808058	MCF-7	breast:	n/a	n/a
20	BCLAF1	chr6:27802551-27808286	K562	blood:	n/a	chr6:27803234-27803242
21	STAT5A	chr6:27804634-27806516	GM12878	blood:	n/a	chr6:27806465-27806489
22	POLR2A	chr6:27804577-27807240	GM12892	blood:	n/a	n/a
23	REST	chr6:27805042-27805687	H1-neurons	neurons:	n/a	n/a
24	PML	chr6:27804849-27805445	GM12878	blood:	n/a	n/a
25	RUNX3	chr6:27804643-27806592	GM12878	blood:	n/a	chr6:27806250-27806259 chr6:27806250-27806259
26	EP300	chr6:27804912-27805424	GM12878	blood:	n/a	n/a
27	REST	chr6:27805109-27805797	A549	lung:	n/a	n/a
28	RCOR1	chr6:27804486-27805582	HepG2	liver:	n/a	n/a
29	POLR2A	chr6:27805153-27806936	GM12878	blood:	n/a	n/a
30	POLR2A	chr6:27804370-27807327	GM12878	blood:	n/a	n/a
31	EBF1	chr6:27804443-27805517	GM12878	blood:	n/a	n/a
32	POLR2A	chr6:27804313-27807755	HCT-116	colon:	n/a	n/a
33	MYC	chr6:27804641-27806844	Hela-S3	cervix:	n/a	n/a
34	MAX	chr6:27804984-27805558	MCF-7	breast:	n/a	n/a
35	CHD2	chr6:27804593-27806485	GM12878	blood:	n/a	chr6:27805473-27805483
36	BCL3	chr6:27804978-27805705	A549	lung:	n/a	n/a
37	GTF2F1	chr6:27804566-27806925	Hela-S3	cervix:	n/a	n/a
38	ZMIZ1	chr6:27804289-27806580	K562	blood:	n/a	n/a
39	POLR2A	chr6:27805210-27805391	A549	lung:	n/a	n/a
40	POLR2A	chr6:27803974-27807891	H1-hESC	embryonic stem cell:	n/a	n/a
41	RFX5	chr6:27804969-27805745	GM12878	blood:	n/a	chr6:27805028-27805043
42	MAX	chr6:27804573-27805579	NB4	blood:	n/a	n/a
43	ZBTB33	chr6:27805016-27805459	HCT-116	colon:	n/a	n/a
44	POLR2A	chr6:27804564-27807068	GM18951	blood:	n/a	n/a
45	TAF1	chr6:27804773-27805507	A549	lung:	n/a	n/a
46	MAZ	chr6:27804638-27805375	HepG2	liver:	n/a	n/a
47	POLR2A	chr6:27804083-27807980	MCF10A-Er-Src	breast:	n/a	n/a
48	MAX	chr6:27804636-27805571	SK-N-SH	brain:	n/a	n/a
49	ELK1	chr6:27804669-27805543	K562	blood:	n/a	n/a
50	JUND	chr6:27804469-27806601	HCT-116	colon:	n/a	chr6:27806307-27806315 chr6:27806241-27806250

No data

(count:42 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:26197676..26199688-chr6:27803867..27806296,2	MCF-7	breast:
2	chr6:26283488..26285487-chr6:27802901..27805712,2	MCF-7	breast:
3	chr11:61583580..61584189-chr6:27805197..27806170,2	Hela-S3	cervix:
4	chr6:26216271..26217870-chr6:27804676..27807375,2	MCF-7	breast:
5	chr6:27112467..27114730-chr6:27804921..27806432,2	MCF-7	breast:
6	chr6:26032417..26034288-chr6:27803614..27806340,2	K562	blood:
7	chr1:155230699..155233655-chr6:27804645..27806252,2	MCF-7	breast:
8	chr1:186344318..186345132-chr6:27804632..27805561,2	Hela-S3	cervix:
9	chr19:3984284..3985265-chr6:27804912..27805717,2	Hela-S3	cervix:
10	chr3:156877675..156878218-chr6:27805178..27805711,2	Hela-S3	cervix:
11	chr14:39571965..39572947-chr6:27805061..27805759,2	Hela-S3	cervix:
12	chr6:27803895..27805819-chr6:28090155..28092205,2	MCF-7	breast:
13	chr6:27098188..27105257-chr6:27800590..27808222,20	K562	blood:
14	chr6:26102660..26104205-chr6:27804912..27807560,2	MCF-7	breast:
15	chr6:27093465..27120217-chr6:27768366..27817187,256	K562	blood:
16	chr3:146187253..146187846-chr6:27804931..27805821,2	Hela-S3	cervix:
17	chr20:50158937..50159495-chr6:27804992..27805880,2	HCT-116	colon:
18	chr6:27805063..27806692-chrX:69644686..69647286,2	MCF-7	breast:
19	chr3:6645512..6648049-chr6:27803536..27805535,2	K562	blood:
20	chr6:27804731..27806517-chr6:28302178..28303810,2	MCF-7	breast:
21	chr2:10266920..10267467-chr6:27804980..27805637,2	Hela-S3	cervix:
22	chr6:26201657..26204430-chr6:27803737..27806295,2	K562	blood:
23	chr17:49021541..49022289-chr6:27805077..27806038,2	Hela-S3	cervix:
24	chr14:105881282..105882070-chr6:27804848..27805770,2	NB4	blood:
25	chr6:26198540..26201852-chr6:27803216..27805609,3	MCF-7	breast:
26	chr6:27447703..27449538-chr6:27803629..27805992,2	K562	blood:
27	chr6:27781952..27782555-chr6:27805029..27805895,2	Hela-S3	cervix:
28	chr6:26020896..26022698-chr6:27805218..27807913,2	MCF-7	breast:
29	chr3:49131901..49134800-chr6:27804680..27807035,2	K562	blood:
30	chr16:1832262..1833211-chr6:27804862..27805465,2	Hela-S3	cervix:
31	chr6:26217533..26219275-chr6:27804543..27806059,2	MCF-7	breast:
32	chr6:27802664..27806163-chr6:28103303..28107418,3	K562	blood:
33	chr6:27802790..27806364-chr6:28301138..28304856,3	K562	blood:
34	chr6:27803974..27806831-chr6:28047434..28050953,3	K562	blood:
35	chr6:27111071..27119431-chr6:27801399..27810552,22	K562	blood:
36	chr6:26154851..26161490-chr6:27803982..27809302,10	MCF-7	breast:
37	chr15:73925187..73926017-chr6:27805261..27805988,2	Hela-S3	cervix:
38	chr6:26030223..26032455-chr6:27803494..27806163,2	MCF-7	breast:
39	chr6:26248548..26251573-chr6:27804548..27807242,3	MCF-7	breast:
40	chr6:27113200..27117534-chr6:27802228..27806893,11	MCF-7	breast:
41	chr6:27447039..27449538-chr6:27803021..27805992,2	K562	blood:
42	chr6:26204681..26207115-chr6:27805289..27807793,3	MCF-7	breast:

No data

Variant related genes	Relation type
HIST1H2BN	TF binding region
ENSG00000258651	Chromatin interaction
ENSG00000247011	Chromatin interaction
ENSG00000167658	Chromatin interaction
ENSG00000100934	Chromatin interaction
ENSG00000198518	Chromatin interaction
ENSG00000124635	Chromatin interaction
ENSG00000196787	Chromatin interaction
ENSG00000168274	Chromatin interaction
ENSG00000197846	Chromatin interaction
ENSG00000162032	Chromatin interaction
ENSG00000235109	Chromatin interaction
ENSG00000157181	Chromatin interaction
ENSG00000265565	Chromatin interaction
ENSG00000198339	Chromatin interaction
ENSG00000149485	Chromatin interaction
ENSG00000184825	Chromatin interaction
ENSG00000116521	Chromatin interaction
ENSG00000217275	Chromatin interaction
ENSG00000256316	Chromatin interaction
ENSG00000197279	Chromatin interaction
ENSG00000196176	Chromatin interaction
ENSG00000124693	Chromatin interaction
ENSG00000261839	Chromatin interaction
ENSG00000101096	Chromatin interaction
ENSG00000197903	Chromatin interaction
ENSG00000047410	Chromatin interaction
ENSG00000158373	Chromatin interaction
ENSG00000172053	Chromatin interaction
ENSG00000187990	Chromatin interaction
ENSG00000197061	Chromatin interaction
ENSG00000272009	Chromatin interaction
ENSG00000156642	Chromatin interaction
ENSG00000269293	Chromatin interaction
ENSG00000134824	Chromatin interaction
ENSG00000168298	Chromatin interaction
ENSG00000197409	Chromatin interaction
ENSG00000196866	Chromatin interaction
ENSG00000171848	Chromatin interaction
ENSG00000163660	Chromatin interaction
ENSG00000137259	Chromatin interaction
ENSG00000095906	Chromatin interaction
ENSG00000130055	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs17693877	0.82[EUR][1000 genomes]
rs34144478	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34957169	0.88[EUR][1000 genomes]
rs41269275	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72845896	0.86[EUR][1000 genomes]
rs72847322	0.86[EUR][1000 genomes]
rs72847323	0.86[EUR][1000 genomes]
rs72847329	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72847332	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72847342	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72847343	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72847348	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72847355	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72847356	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72847361	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72847365	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72847370	0.93[EUR][1000 genomes]
rs72847377	0.95[EUR][1000 genomes]
rs72847379	0.91[EUR][1000 genomes]
rs72847381	0.86[EUR][1000 genomes]
rs72847383	0.91[EUR][1000 genomes]
rs72848752	0.82[EUR][1000 genomes]
rs72848753	0.84[EUR][1000 genomes]
rs72848754	0.88[EUR][1000 genomes]
rs72848755	0.88[EUR][1000 genomes]
rs72848760	0.91[EUR][1000 genomes]
rs72848763	0.91[EUR][1000 genomes]
rs72848766	0.91[EUR][1000 genomes]
rs72848767	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs72848769	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs72848770	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs72848772	0.81[EUR][1000 genomes]
rs72848773	0.91[EUR][1000 genomes]
rs72848774	0.86[EUR][1000 genomes]
rs72848776	0.86[EUR][1000 genomes]
rs72848784	0.86[EUR][1000 genomes]
rs72848785	0.82[EUR][1000 genomes]
rs72848793	1.00[AFR][1000 genomes];0.82[EUR][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	nsv1022797	chr6:27396961-27864277	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	390 gene(s)	inside rSNPs	diseases
2	nsv432858	chr6:27719375-28011652	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	387 gene(s)	inside rSNPs	diseases
3	nsv1017440	chr6:27734824-27864277	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	370 gene(s)	inside rSNPs	diseases
4	nsv1022173	chr6:27734824-27959408	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	379 gene(s)	inside rSNPs	diseases
5	nsv883512	chr6:27748631-27969004	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	379 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27802600-27805800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr6:27802800-27808200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr6:27803200-27807400	Active TSS	K562	blood
4	chr6:27803200-27807600	Active TSS	Fetal Thymus	thymus
5	chr6:27803200-27808200	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr6:27803400-27808000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
7	chr6:27803400-27808400	Active TSS	GM12878-XiMat	blood
8	chr6:27803800-27805400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
9	chr6:27803800-27805600	Active TSS	Brain Germinal Matrix	brain
10	chr6:27803800-27805800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
11	chr6:27803800-27805800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr6:27803800-27806000	Flanking Active TSS	Primary hematopoietic stem cells	blood
13	chr6:27803800-27806000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr6:27803800-27807800	Active TSS	Fetal Intestine Large	intestine
15	chr6:27803800-27808200	Active TSS	Thymus	Thymus
16	chr6:27804000-27805600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
17	chr6:27804000-27805600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
18	chr6:27804000-27805800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
19	chr6:27804000-27807600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr6:27804000-27807800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr6:27804000-27808000	Active TSS	H1 Cell Line	embryonic stem cell
22	chr6:27804000-27808000	Active TSS	HSMMtube	muscle
23	chr6:27804000-27808200	Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr6:27804200-27805400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr6:27804200-27805800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
26	chr6:27804200-27805800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
27	chr6:27804200-27805800	Flanking Active TSS	Adipose Nuclei	Adipose
28	chr6:27804200-27805800	Active TSS	Stomach Smooth Muscle	stomach
29	chr6:27804200-27806000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
30	chr6:27804200-27806800	Active TSS	Fetal Muscle Trunk	muscle
31	chr6:27804200-27807200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
32	chr6:27804200-27807400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr6:27804200-27807400	Bivalent/Poised TSS	Brain Substantia Nigra	brain
34	chr6:27804200-27807600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr6:27804200-27807600	Active TSS	Aorta	Aorta
36	chr6:27804200-27807800	Active TSS	H9 Cell Line	embryonic stem cell
37	chr6:27804200-27807800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
38	chr6:27804200-27807800	Active TSS	Psoas Muscle	Psoas
39	chr6:27804200-27808000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr6:27804200-27808000	Active TSS	Breast Myoepithelial Primary Cells	Breast
41	chr6:27804200-27808000	Active TSS	A549	lung
42	chr6:27804400-27805400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
43	chr6:27804400-27805600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
44	chr6:27804400-27806800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr6:27804400-27806800	Active TSS	Duodenum Smooth Muscle	Duodenum
46	chr6:27804400-27806800	Active TSS	Fetal Stomach	stomach
47	chr6:27804400-27807000	Active TSS	Rectal Mucosa Donor 29	rectum
48	chr6:27804400-27807400	Active TSS	iPS-20b Cell Line	embryonic stem cell
49	chr6:27804400-27807400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr6:27804400-27807400	Active TSS	Primary T killer memory cells from peripheral blood	blood

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