Variant report

Variant	rs72854527
Chromosome Location	chr6:28303161-28303162
allele	C/G
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:35)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:35 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:28109265..28112090-chr6:28302311..28305142,2	MCF-7	breast:
2	chr6:27775597..27780846-chr6:28300467..28304976,7	K562	blood:
3	chr6:28191649..28195458-chr6:28301378..28307708,9	K562	blood:
4	chr6:28099723..28110178-chr6:28301599..28306918,14	K562	blood:
5	chr6:27796630..27800125-chr6:28302655..28305022,3	K562	blood:
6	chr6:28247415..28251168-chr6:28301808..28306623,8	K562	blood:
7	chr6:27832606..27835088-chr6:28302807..28304572,2	K562	blood:
8	chr6:28293963..28296628-chr6:28301528..28305497,4	MCF-7	breast:
9	chr6:27832219..27835088-chr6:28302807..28305055,2	K562	blood:
10	chr6:27774293..27778194-chr6:28301096..28304976,3	K562	blood:
11	chr6:28109273..28111011-chr6:28302779..28305242,3	MCF-7	breast:
12	chr6:28218301..28221476-chr6:28302207..28305180,4	MCF-7	breast:
13	chr6:27798625..27800434-chr6:28302917..28305015,2	K562	blood:
14	chr6:28300850..28305636-chr6:28315212..28320749,12	MCF-7	breast:
15	chr6:28245880..28256877-chr6:28299741..28307557,21	K562	blood:
16	chr6:28234248..28238647-chr6:28302210..28305266,7	K562	blood:
17	chr6:28103055..28111556-chr6:28296771..28308203,17	K562	blood:
18	chr6:28233221..28238495-chr6:28301018..28307259,12	K562	blood:
19	chr6:27804731..27806517-chr6:28302178..28303810,2	MCF-7	breast:
20	chr12:125397947..125399800-chr6:28303115..28304778,2	K562	blood:
21	chr6:28184981..28190782-chr6:28297491..28307222,23	K562	blood:
22	chr6:28182366..28191375-chr6:28300021..28306741,17	K562	blood:
23	chr6:28191609..28196785-chr6:28301378..28305522,8	K562	blood:
24	chr6:28302165..28304933-chr6:28366158..28368845,2	K562	blood:
25	chr6:28126892..28131515-chr6:28301205..28304944,6	K562	blood:
26	chr6:28232678..28234825-chr6:28301975..28304232,2	MCF-7	breast:
27	chr6:28285662..28290423-chr6:28300603..28305447,9	MCF-7	breast:
28	chr6:28218514..28221776-chr6:28301462..28305432,7	K562	blood:
29	chr6:28248171..28250694-chr6:28301952..28304469,4	MCF-7	breast:
30	chr6:28287491..28290035-chr6:28302948..28305431,2	K562	blood:
31	chr6:27857690..27865363-chr6:28300493..28306970,14	K562	blood:
32	chr6:27802790..27806364-chr6:28301138..28304856,3	K562	blood:
33	chr6:27113242..27115485-chr6:28302941..28304550,2	K562	blood:
34	chr6:28218514..28221956-chr6:28302143..28305192,6	K562	blood:
35	chr6:27857994..27864853-chr6:28300493..28305532,13	K562	blood:

No data

Variant related genes	Relation type
ENSG00000184348	Chromatin interaction
ENSG00000217862	Chromatin interaction
ENSG00000269293	Chromatin interaction
ENSG00000197153	Chromatin interaction
ENSG00000261839	Chromatin interaction
ENSG00000197903	Chromatin interaction
ENSG00000197914	Chromatin interaction
ENSG00000197062	Chromatin interaction
ENSG00000158691	Chromatin interaction
ENSG00000137338	Chromatin interaction
ENSG00000238610	Chromatin interaction
ENSG00000265565	Chromatin interaction
ENSG00000198315	Chromatin interaction
ENSG00000233822	Chromatin interaction
ENSG00000226314	Chromatin interaction
ENSG00000185130	Chromatin interaction
ENSG00000176933	Chromatin interaction
ENSG00000150991	Chromatin interaction
ENSG00000189298	Chromatin interaction
ENSG00000203813	Chromatin interaction
ENSG00000270326	Chromatin interaction
ENSG00000196747	Chromatin interaction
ENSG00000198374	Chromatin interaction
ENSG00000233224	Chromatin interaction
ENSG00000196331	Chromatin interaction
ENSG00000187626	Chromatin interaction
ENSG00000184825	Chromatin interaction
ENSG00000235109	Chromatin interaction
ENSG00000137185	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs1150710	1.00[ASN][1000 genomes]
rs11546572	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2079705	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34951544	1.00[AFR][1000 genomes]
rs41269285	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs41269287	1.00[ASN][1000 genomes]
rs41269289	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41269291	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs41270579	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41270589	1.00[AFR][1000 genomes]
rs4540253	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61744109	1.00[ASN][1000 genomes]
rs62620226	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72844204	1.00[AFR][1000 genomes]
rs72844212	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72844218	1.00[AFR][1000 genomes]
rs72844220	1.00[AFR][1000 genomes]
rs72844226	1.00[AFR][1000 genomes]
rs72846777	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72846788	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72846792	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72846797	1.00[ASN][1000 genomes]
rs72846802	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72849204	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72849206	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72849210	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72849214	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72849222	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72850297	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72850298	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72850299	1.00[AFR][1000 genomes]
rs72850300	1.00[AFR][1000 genomes]
rs72850302	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72851160	1.00[ASN][1000 genomes]
rs72851161	1.00[ASN][1000 genomes]
rs72851168	1.00[ASN][1000 genomes]
rs72851173	1.00[AFR][1000 genomes]
rs72851179	1.00[AFR][1000 genomes]
rs72851182	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72854503	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72854506	1.00[ASN][1000 genomes]
rs72854515	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72854521	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72854522	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72854524	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72854525	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72854531	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72854533	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72854535	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72854536	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs72854542	1.00[AMR][1000 genomes]
rs72854546	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72854553	1.00[AMR][1000 genomes]
rs72854556	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7752415	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][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	nsv830620	chr6:28173997-28348033	Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	51 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	chr6:28297000-28303400	Weak transcription	Gastric	stomach
2	chr6:28297400-28303400	Weak transcription	Ovary	ovary
3	chr6:28297400-28303400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr6:28301600-28303400	Weak transcription	Lung	lung
5	chr6:28302200-28303200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr6:28302200-28303200	Flanking Active TSS	Fetal Heart	heart
7	chr6:28302200-28305400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr6:28302400-28303200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr6:28302400-28303200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
10	chr6:28302400-28303200	Flanking Active TSS	Fetal Lung	lung
11	chr6:28302400-28303200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
12	chr6:28302400-28303200	Flanking Active TSS	Rectal Smooth Muscle	rectum
13	chr6:28302400-28303200	Flanking Active TSS	HepG2	liver
14	chr6:28302400-28304400	Active TSS	HSMMtube	muscle
15	chr6:28302400-28305200	Active TSS	H9 Cell Line	embryonic stem cell
16	chr6:28302400-28305200	Active TSS	Duodenum Smooth Muscle	Duodenum
17	chr6:28302400-28305600	Active TSS	HUES64 Cell Line	embryonic stem cell
18	chr6:28302600-28303200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr6:28302600-28303200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr6:28302600-28304200	Active TSS	Stomach Smooth Muscle	stomach
21	chr6:28302600-28304600	Active TSS	Colon Smooth Muscle	Colon
22	chr6:28302600-28305200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr6:28302600-28305200	Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr6:28302800-28303200	Flanking Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr6:28302800-28303200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
26	chr6:28302800-28303200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr6:28302800-28303200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
28	chr6:28302800-28303200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr6:28302800-28303200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr6:28302800-28303200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr6:28302800-28303200	Flanking Active TSS	Adipose Nuclei	Adipose
32	chr6:28302800-28303200	Flanking Active TSS	Liver	Liver
33	chr6:28302800-28303200	Flanking Active TSS	Brain Anterior Caudate	brain
34	chr6:28302800-28303200	Flanking Active TSS	Brain Substantia Nigra	brain
35	chr6:28302800-28303200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
36	chr6:28302800-28303200	Enhancers	Fetal Brain Male	brain
37	chr6:28302800-28303200	Flanking Active TSS	Fetal Brain Female	brain
38	chr6:28302800-28303200	Flanking Active TSS	Fetal Intestine Large	intestine
39	chr6:28302800-28303200	Flanking Active TSS	Fetal Intestine Small	intestine
40	chr6:28302800-28303200	Flanking Active TSS	Fetal Muscle Trunk	muscle
41	chr6:28302800-28303200	Flanking Active TSS	Fetal Muscle Leg	muscle
42	chr6:28302800-28303200	Flanking Active TSS	Fetal Stomach	stomach
43	chr6:28302800-28303200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
44	chr6:28302800-28303200	Enhancers	Small Intestine	intestine
45	chr6:28302800-28303200	Flanking Active TSS	Stomach Mucosa	stomach
46	chr6:28302800-28303200	Flanking Active TSS	GM12878-XiMat	blood
47	chr6:28302800-28303200	Flanking Active TSS	NH-A	brain
48	chr6:28302800-28303400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr6:28302800-28303400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
50	chr6:28302800-28303400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum

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