Variant report

Variant	rs9461333
Chromosome Location	chr6:27109190-27109191
allele	C/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:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:26120892..26123580-chr6:27107524..27109236,2	K562	blood:
2	chr6:27094943..27118570-chr6:27854106..27868030,101	K562	blood:
3	chr6:26660140..26662715-chr6:27107462..27109836,2	K562	blood:
4	chr6:26029982..26034393-chr6:27104962..27111668,7	K562	blood:
5	chr6:26214207..26218801-chr6:27106442..27111603,7	MCF-7	breast:
6	chr6:26595534..26598582-chr6:27105401..27109406,3	K562	blood:
7	chr6:27093465..27120217-chr6:27768366..27817187,256	K562	blood:
8	chr6:27107762..27109268-chr6:27804988..27807369,2	K562	blood:
9	chr3:156534603..156535443-chr6:27108732..27109510,2	Hela-S3	cervix:
10	chr6:26922784..26926269-chr6:27109047..27111436,3	K562	blood:
11	chr6:27104887..27109324-chr6:27780147..27783327,4	MCF-7	breast:
12	chr6:26285002..26288145-chr6:27106372..27109970,3	K562	blood:
13	chr6:26283501..26289776-chr6:27108470..27116413,14	K562	blood:
14	chr6:26283994..26286611-chr6:27107425..27109843,2	MCF-7	breast:
15	chr6:26026816..26029194-chr6:27108371..27110703,2	K562	blood:
16	chr6:27105394..27120060-chr6:27855994..27866393,42	K562	blood:
17	chr6:26029982..26033364-chr6:27104962..27109285,6	K562	blood:
18	chr6:26056111..26057808-chr6:27108105..27110982,3	K562	blood:
19	chr6:26204311..26207640-chr6:27105695..27109383,4	K562	blood:
20	chr6:27109057..27111937-chr6:27732114..27735036,2	K562	blood:
21	chr6:27093369..27111594-chr6:27770152..27782376,64	K562	blood:
22	chr6:27108913..27111186-chr6:27789836..27792842,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000185130	Chromatin interaction
ENSG00000168274	Chromatin interaction
ENSG00000240875	Chromatin interaction
ENSG00000224843	Chromatin interaction
ENSG00000187837	Chromatin interaction
ENSG00000233224	Chromatin interaction
ENSG00000137259	Chromatin interaction
ENSG00000146109	Chromatin interaction
ENSG00000196747	Chromatin interaction
ENSG00000233822	Chromatin interaction
ENSG00000238610	Chromatin interaction
ENSG00000196374	Chromatin interaction
ENSG00000124693	Chromatin interaction
ENSG00000203813	Chromatin interaction
ENSG00000197238	Chromatin interaction
ENSG00000198518	Chromatin interaction
ENSG00000196331	Chromatin interaction
ENSG00000197153	Chromatin interaction
ENSG00000182611	Chromatin interaction
ENSG00000124529	Chromatin interaction
ENSG00000184348	Chromatin interaction
ENSG00000241549	Chromatin interaction
ENSG00000197914	Chromatin interaction
ENSG00000187990	Chromatin interaction
ENSG00000217862	Chromatin interaction
ENSG00000158406	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]
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]
rs9467995	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]
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:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27101800-27112800	Weak transcription	HSMMtube	muscle
2	chr6:27102200-27112600	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr6:27106200-27109200	Active TSS	Rectal Mucosa Donor 29	rectum
4	chr6:27106600-27110200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr6:27106800-27109400	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr6:27106800-27109400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr6:27106800-27109800	Active TSS	H1 Cell Line	embryonic stem cell
8	chr6:27106800-27109800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr6:27106800-27109800	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr6:27106800-27110000	Active TSS	A549	lung
11	chr6:27107000-27109200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
12	chr6:27107000-27109400	Active TSS	GM12878-XiMat	blood
13	chr6:27107000-27109400	Active TSS	Hela-S3	cervix
14	chr6:27107000-27109600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr6:27107000-27109800	Active TSS	H9 Cell Line	embryonic stem cell
16	chr6:27107000-27110000	Active TSS	iPS-18 Cell Line	embryonic stem cell
17	chr6:27107000-27110000	Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr6:27107400-27109800	Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr6:27107400-27112600	Weak transcription	Pancreas	Pancrea
20	chr6:27107600-27112400	Weak transcription	HMEC	breast
21	chr6:27107600-27112600	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr6:27107800-27109200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr6:27107800-27109600	Weak transcription	Spleen	Spleen
24	chr6:27107800-27112400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr6:27107800-27112600	Weak transcription	Gastric	stomach
26	chr6:27107800-27113000	Weak transcription	Brain Anterior Caudate	brain
27	chr6:27107800-27113200	Weak transcription	Lung	lung
28	chr6:27108000-27109200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr6:27108000-27109800	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr6:27108000-27109800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr6:27108000-27110800	Weak transcription	Small Intestine	intestine
32	chr6:27108000-27111200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr6:27108000-27111200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr6:27108000-27111400	Weak transcription	Liver	Liver
35	chr6:27108000-27112000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr6:27108000-27112000	Weak transcription	Left Ventricle	heart
37	chr6:27108000-27112000	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr6:27108000-27112200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr6:27108000-27112400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr6:27108000-27112400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr6:27108000-27112400	Weak transcription	Colon Smooth Muscle	Colon
42	chr6:27108000-27112600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr6:27108000-27112600	Weak transcription	Aorta	Aorta
44	chr6:27108000-27112600	Weak transcription	Colonic Mucosa	Colon
45	chr6:27108000-27112600	Weak transcription	Esophagus	oesophagus
46	chr6:27108000-27112600	Weak transcription	Fetal Muscle Trunk	muscle
47	chr6:27108000-27112600	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr6:27108000-27112600	Weak transcription	Stomach Smooth Muscle	stomach
49	chr6:27108000-27112600	Weak transcription	Osteobl	bone
50	chr6:27108000-27112800	Weak transcription	NHDF-Ad	bronchial

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