Variant report

Variant	rs9467995
Chromosome Location	chr6:27106816-27106817
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:213)
CpG islands
(count:0)
Chromatin interactive
region (count:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:213 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF12	chr6:27106742-27107383	A549	lung:	n/a	n/a
2	GATA1	chr6:27106079-27108094	PBDE	blood:	n/a	n/a
3	REST	chr6:27106722-27107231	A549	lung:	n/a	n/a
4	MTA3	chr6:27106668-27108344	GM12878	blood:	n/a	n/a
5	CREB1	chr6:27106731-27108144	GM12878	blood:	n/a	n/a
6	CHD2	chr6:27106777-27108255	H1-hESC	embryonic stem cell:	n/a	n/a
7	EP300	chr6:27106742-27107417	SK-N-SH	brain:	n/a	n/a
8	JUN	chr6:27106750-27107134	K562	blood:	n/a	n/a
9	CBX3	chr6:27106755-27107443	K562	blood:	n/a	n/a
10	MEF2A	chr6:27106714-27107316	GM12878	blood:	n/a	n/a
11	MAFF	chr6:27106810-27108191	K562	blood:	n/a	n/a
12	ETS1	chr6:27106781-27107339	GM12878	blood:	n/a	chr6:27106997-27107006 chr6:27106998-27107007 chr6:27106994-27107005
13	MXI1	chr6:27106767-27108094	Hela-S3	cervix:	n/a	n/a
14	MAFK	chr6:27106305-27107242	K562	blood:	n/a	n/a
15	ARID3A	chr6:27106081-27107176	K562	blood:	n/a	n/a
16	JUND	chr6:27106660-27107441	SK-N-SH	brain:	n/a	n/a
17	ELK4	chr6:27106793-27107259	Hela-S3	cervix:	n/a	chr6:27106994-27107005
18	RELA	chr6:27106323-27108008	GM12878	blood:	n/a	n/a
19	CREB1	chr6:27106794-27108114	H1-hESC	embryonic stem cell:	n/a	n/a
20	RELA	chr6:27106776-27107900	GM12891	blood:	n/a	n/a
21	FOXM1	chr6:27106654-27108034	GM12878	blood:	n/a	n/a
22	GTF2F1	chr6:27106777-27107855	K562	blood:	n/a	n/a
23	STAT5A	chr6:27106804-27108085	GM12878	blood:	n/a	chr6:27106846-27106854
24	MAFK	chr6:27106811-27107341	Hela-S3	cervix:	n/a	n/a
25	CCNT2	chr6:27106762-27108152	K562	blood:	n/a	chr6:27106961-27106970
26	TAF7	chr6:27106780-27107878	H1-hESC	embryonic stem cell:	n/a	n/a
27	ZBTB33	chr6:27106669-27108127	SK-N-SH	brain:	n/a	n/a
28	GATA3	chr6:27106787-27108028	A549	lung:	n/a	n/a
29	BCLAF1	chr6:27106775-27108037	GM12878	blood:	n/a	n/a
30	CHD1	chr6:27106745-27108273	GM12878	blood:	n/a	n/a
31	MAX	chr6:27106755-27107343	H1-hESC	embryonic stem cell:	n/a	n/a
32	SPI1	chr6:27106767-27107231	HL-60	blood:	n/a	chr6:27106996-27107009
33	RXRA	chr6:27106762-27107281	SK-N-SH	brain:	n/a	n/a
34	MXI1	chr6:27106757-27108035	GM12878	blood:	n/a	n/a
35	SIN3AK20	chr6:27106793-27108061	SK-N-SH	brain:	n/a	n/a
36	CHD1	chr6:27106648-27109913	H1-hESC	embryonic stem cell:	n/a	n/a
37	PML	chr6:27106148-27108187	K562	blood:	n/a	n/a
38	GATA2	chr6:27106730-27109020	K562	blood:	n/a	n/a
39	E2F6	chr6:27106720-27107329	H1-hESC	embryonic stem cell:	n/a	chr6:27106987-27106994 chr6:27106986-27106994 chr6:27106985-27106995 chr6:27106984-27106995 chr6:27106986-27106994 chr6:27106983-27106994 chr6:27106981-27106992
40	RELA	chr6:27106768-27107893	GM19099	blood:	n/a	n/a
41	HEY1	chr6:27106774-27109872	K562	blood:	n/a	n/a
42	TBL1XR1	chr6:27106283-27108154	K562	blood:	n/a	n/a
43	POLR2A	chr6:27106686-27108786	Hela-S3	cervix:	n/a	n/a
44	ATF3	chr6:27106806-27107240	A549	lung:	n/a	n/a
45	RELA	chr6:27106782-27108018	GM18951	blood:	n/a	n/a
46	POLR2A	chr6:27106756-27108327	K562	blood:	n/a	n/a
47	RELA	chr6:27106771-27108043	GM10847	blood:	n/a	n/a
48	POLR2A	chr6:27106782-27108610	H1-hESC	embryonic stem cell:	n/a	n/a
49	BRCA1	chr6:27106703-27107978	Hela-S3	cervix:	n/a	n/a
50	RUNX3	chr6:27106789-27108042	GM12878	blood:	n/a	n/a

No data

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:26285002..26287189-chr6:27105491..27107872,2	K562	blood:
2	chr6:27104100..27108145-chr6:27797427..27800059,3	K562	blood:
3	chr6:27103857..27108544-chr6:27789458..27794450,6	K562	blood:
4	chr6:26196890..26209578-chr6:27096615..27108451,46	K562	blood:
5	chr6:27094943..27118570-chr6:27854106..27868030,101	K562	blood:
6	chr6:26197700..26201009-chr6:27106361..27108760,3	K562	blood:
7	chr6:26156243..26157792-chr6:27105559..27107169,2	MCF-7	breast:
8	chr6:26248693..26251419-chr6:27106113..27108682,2	K562	blood:
9	chr6:26029982..26034393-chr6:27104962..27111668,7	K562	blood:
10	chr6:26214207..26218801-chr6:27106442..27111603,7	MCF-7	breast:
11	chr6:26595534..26598582-chr6:27105401..27109406,3	K562	blood:
12	chr6:27093465..27120217-chr6:27768366..27817187,256	K562	blood:
13	chr6:27104887..27109324-chr6:27780147..27783327,4	MCF-7	breast:
14	chr6:26285002..26288145-chr6:27106372..27109970,3	K562	blood:
15	chr6:27104525..27107028-chr6:27518543..27521134,2	K562	blood:
16	chr6:27105394..27120060-chr6:27855994..27866393,42	K562	blood:
17	chr6:26162758..26165720-chr6:27106802..27109044,2	MCF-7	breast:
18	chr6:26029982..26033364-chr6:27104962..27109285,6	K562	blood:
19	chr6:26204311..26207640-chr6:27105695..27109383,4	K562	blood:
20	chr10:32735153..32735692-chr6:27106612..27107530,2	Hela-S3	cervix:
21	chr6:27093369..27111594-chr6:27770152..27782376,64	K562	blood:
22	chr6:26214554..26217001-chr6:27106278..27109179,2	MCF-7	breast:
23	chr6:27105570..27109142-chr6:27832678..27836176,3	K562	blood:
24	chr6:26055472..26057747-chr6:27104934..27107205,2	K562	blood:
25	chr15:65587975..65588961-chr6:27106719..27107655,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
HIST1H4I	TF binding region
ENSG00000217862	Chromatin interaction
ENSG00000196331	Chromatin interaction
ENSG00000146109	Chromatin interaction
ENSG00000196747	Chromatin interaction
ENSG00000124693	Chromatin interaction
ENSG00000197238	Chromatin interaction
ENSG00000197846	Chromatin interaction
ENSG00000185130	Chromatin interaction
ENSG00000168298	Chromatin interaction
ENSG00000198374	Chromatin interaction
ENSG00000196866	Chromatin interaction
ENSG00000217159	Chromatin interaction
ENSG00000184357	Chromatin interaction
ENSG00000216937	Chromatin interaction
ENSG00000256316	Chromatin interaction
ENSG00000187990	Chromatin interaction
ENSG00000198518	Chromatin interaction
ENSG00000238610	Chromatin interaction
ENSG00000137259	Chromatin interaction
ENSG00000184348	Chromatin interaction
ENSG00000199568	Chromatin interaction
ENSG00000158406	Chromatin interaction
ENSG00000203813	Chromatin interaction
ENSG00000197409	Chromatin interaction
ENSG00000217275	Chromatin interaction
ENSG00000187837	Chromatin interaction
ENSG00000182611	Chromatin interaction
ENSG00000197153	Chromatin interaction
ENSG00000197914	Chromatin interaction
ENSG00000196374	Chromatin interaction
ENSG00000233224	Chromatin interaction
ENSG00000233822	Chromatin interaction
ENSG00000168274	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs12182179	1.00[EUR][1000 genomes]
rs13362804	1.00[EUR][1000 genomes]
rs13437282	1.00[EUR][1000 genomes]
rs3999250	1.00[EUR][1000 genomes]
rs56853796	1.00[EUR][1000 genomes]
rs58699206	1.00[EUR][1000 genomes]
rs59770724	1.00[EUR][1000 genomes]
rs61058534	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9461312	1.00[EUR][1000 genomes]
rs9461319	1.00[EUR][1000 genomes]
rs9461320	1.00[EUR][1000 genomes]
rs9461321	1.00[EUR][1000 genomes]
rs9461323	1.00[EUR][1000 genomes]
rs9461326	1.00[EUR][1000 genomes]
rs9461327	1.00[EUR][1000 genomes]
rs9461332	1.00[MEX][hapmap];1.00[YRI][hapmap]
rs9461333	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9461341	1.00[EUR][1000 genomes]
rs9467927	1.00[EUR][1000 genomes]
rs9467928	1.00[EUR][1000 genomes]
rs9467934	1.00[EUR][1000 genomes]
rs9467937	1.00[EUR][1000 genomes]
rs9467944	1.00[EUR][1000 genomes]
rs9467945	1.00[EUR][1000 genomes]
rs9467946	1.00[EUR][1000 genomes]
rs9467949	1.00[EUR][1000 genomes]
rs9467958	1.00[EUR][1000 genomes]
rs9467959	1.00[EUR][1000 genomes]
rs9467960	1.00[EUR][1000 genomes]
rs9467962	1.00[EUR][1000 genomes]
rs9467963	1.00[EUR][1000 genomes]
rs9467964	1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs9467967	1.00[EUR][1000 genomes]
rs9467968	1.00[EUR][1000 genomes]
rs9467970	1.00[EUR][1000 genomes]
rs9467977	1.00[EUR][1000 genomes]
rs9467979	1.00[EUR][1000 genomes]
rs9467980	1.00[EUR][1000 genomes]
rs9467984	1.00[EUR][1000 genomes]
rs9467985	1.00[EUR][1000 genomes]
rs9467988	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9467990	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9467994	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9467998	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9468001	0.84[AFR][1000 genomes]
rs9468002	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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	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

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27101800-27107000	Weak transcription	Gastric	stomach
2	chr6:27101800-27107000	Weak transcription	Left Ventricle	heart
3	chr6:27101800-27107000	Weak transcription	Lung	lung
4	chr6:27101800-27107000	Weak transcription	Pancreas	Pancrea
5	chr6:27101800-27107000	Weak transcription	Small Intestine	intestine
6	chr6:27101800-27112800	Weak transcription	HSMMtube	muscle
7	chr6:27102000-27107000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr6:27102000-27107000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr6:27102000-27107000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr6:27102000-27107000	Weak transcription	Esophagus	oesophagus
11	chr6:27102000-27107000	Weak transcription	HSMM	muscle
12	chr6:27102200-27112600	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr6:27102800-27107000	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr6:27104000-27107000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr6:27104200-27107000	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr6:27105200-27107000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr6:27105600-27107000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
18	chr6:27105600-27107000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
19	chr6:27105800-27107000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr6:27105800-27108200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr6:27106000-27107000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr6:27106000-27107000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
23	chr6:27106000-27107000	Flanking Active TSS	Dnd41	blood
24	chr6:27106000-27107000	Flanking Active TSS	GM12878-XiMat	blood
25	chr6:27106200-27107000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
26	chr6:27106200-27107000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
27	chr6:27106200-27107000	Weak transcription	Placenta	Placenta
28	chr6:27106200-27109200	Active TSS	Rectal Mucosa Donor 29	rectum
29	chr6:27106400-27107000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
30	chr6:27106400-27107000	Active TSS	Right Atrium	heart
31	chr6:27106400-27107200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
32	chr6:27106400-27107200	Active TSS	Aorta	Aorta
33	chr6:27106400-27107400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr6:27106400-27108400	Flanking Active TSS	Primary B cells from cord blood	blood
35	chr6:27106600-27107000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr6:27106600-27107000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
37	chr6:27106600-27107000	Flanking Active TSS	Primary T cells from cord blood	blood
38	chr6:27106600-27107000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
39	chr6:27106600-27107000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
40	chr6:27106600-27107000	Flanking Active TSS	Fetal Thymus	thymus
41	chr6:27106600-27107600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr6:27106600-27108000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
43	chr6:27106600-27108000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
44	chr6:27106600-27108200	Active TSS	Fetal Stomach	stomach
45	chr6:27106600-27108800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr6:27106600-27108800	Active TSS	K562	blood
47	chr6:27106600-27110200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr6:27106800-27107000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr6:27106800-27107000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr6:27106800-27107000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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