Variant report

Variant	rs72849214
Chromosome Location	chr6:28187215-28187216
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:26)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr6:28187192-28187558	K562	blood:	n/a	n/a
2	E2F6	chr6:28186339-28187250	A549	lung:	n/a	chr6:28186865-28186877 chr6:28186765-28186774 chr6:28186758-28186767
3	GABPA	chr6:28186059-28187392	MCF-7	breast:	n/a	chr6:28186758-28186767 chr6:28186710-28186719
4	HCFC1	chr6:28186131-28187242	Hela-S3	cervix:	n/a	n/a

No data

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:28184931..28189194-chr6:28190077..28194573,12	MCF-7	breast:
2	chr6:28184339..28187958-chr6:28190844..28194750,7	MCF-7	breast:
3	chr6:28182735..28195387-chr6:28315960..28325841,32	K562	blood:
4	chr6:28108272..28111912-chr6:28184259..28187979,3	MCF-7	breast:
5	chr6:28187201..28188726-chr6:28351715..28353985,2	K562	blood:
6	chr6:28143030..28145517-chr6:28186267..28188999,2	K562	blood:
7	chr6:28186853..28189269-chr6:28360764..28363379,2	K562	blood:
8	chr6:28185564..28187470-chr6:28218621..28220714,2	MCF-7	breast:
9	chr6:28186992..28188596-chr6:28234642..28237014,2	K562	blood:
10	chr6:28184789..28191313-chr6:28230652..28235913,7	K562	blood:
11	chr6:28186460..28191177-chr6:28246836..28252039,7	K562	blood:
12	chr6:28186877..28189778-chr6:28366321..28368559,2	K562	blood:
13	chr6:28183629..28195178-chr6:28316250..28325659,29	K562	blood:
14	chr6:28100317..28107200-chr6:28184436..28191088,8	MCF-7	breast:
15	chr6:28104139..28106070-chr6:28185714..28187223,2	MCF-7	breast:
16	chr6:28102723..28113786-chr6:28183725..28194756,41	K562	blood:
17	chr6:27857437..27861183-chr6:28187100..28189751,4	K562	blood:
18	chr6:28135337..28137302-chr6:28186822..28190274,4	K562	blood:
19	chr6:28187110..28190886-chr6:28224658..28229038,5	K562	blood:
20	chr6:27775362..27779371-chr6:28186093..28189957,4	K562	blood:
21	chr6:28184981..28190782-chr6:28297491..28307222,23	K562	blood:
22	chr6:28103775..28113920-chr6:28177995..28190115,32	K562	blood:
23	chr6:28182366..28191375-chr6:28300021..28306741,17	K562	blood:
24	chr6:28187117..28189206-chr6:28783315..28785702,2	K562	blood:
25	chr6:27856777..27859583-chr6:28186890..28189718,3	K562	blood:
26	chr6:27860430..27862717-chr6:28186992..28190210,3	K562	blood:

No data

Variant related genes	Relation type
TOB2P1	TF binding region
ENSG00000269293	Chromatin interaction
ENSG00000189134	Chromatin interaction
ENSG00000137185	Chromatin interaction
ENSG00000203813	Chromatin interaction
ENSG00000198315	Chromatin interaction
ENSG00000197153	Chromatin interaction
ENSG00000235109	Chromatin interaction
ENSG00000137338	Chromatin interaction
ENSG00000196331	Chromatin interaction
ENSG00000261839	Chromatin interaction
ENSG00000158691	Chromatin interaction
ENSG00000216901	Chromatin interaction
ENSG00000233224	Chromatin interaction
ENSG00000197062	Chromatin interaction
ENSG00000196747	Chromatin interaction
ENSG00000187626	Chromatin interaction
ENSG00000189298	Chromatin interaction
ENSG00000185130	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs1150710	1.00[ASN][1000 genomes]
rs11546572	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2079705	1.00[AFR][1000 genomes]
rs41269285	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41269287	1.00[ASN][1000 genomes]
rs41269289	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs41269291	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41270579	1.00[AFR][1000 genomes]
rs41270589	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs4540253	1.00[AFR][1000 genomes]
rs61744109	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62620226	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72844204	1.00[AFR][1000 genomes]
rs72844212	1.00[AFR][1000 genomes]
rs72846777	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72846788	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72846792	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72846797	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72846802	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72848774	1.00[ASN][1000 genomes]
rs72848776	1.00[ASN][1000 genomes]
rs72848784	1.00[ASN][1000 genomes]
rs72848785	1.00[ASN][1000 genomes]
rs72848793	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72849204	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72849206	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72849210	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72849222	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72850297	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72850298	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72850299	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72850300	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72850302	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72851105	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72851135	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72851138	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72851139	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72851156	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72851158	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72851160	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72851161	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72851168	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72851173	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs72851179	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs72851182	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72854503	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72854506	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72854515	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72854521	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72854522	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72854525	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72854527	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72854531	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72854533	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72854535	1.00[AFR][1000 genomes]
rs72854536	1.00[AFR][1000 genomes]
rs72854546	1.00[AFR][1000 genomes]
rs72854556	1.00[AFR][1000 genomes]
rs7752415	1.00[AFR][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:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28185600-28187400	Active TSS	Stomach Smooth Muscle	stomach
2	chr6:28186200-28187400	Active TSS	Breast Myoepithelial Primary Cells	Breast
3	chr6:28186400-28187400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr6:28186400-28187400	Active TSS	Rectal Mucosa Donor 29	rectum
5	chr6:28186400-28187400	Active TSS	Rectal Smooth Muscle	rectum
6	chr6:28186600-28192400	Weak transcription	Spleen	Spleen
7	chr6:28186800-28187400	Flanking Active TSS	Adipose Nuclei	Adipose
8	chr6:28186800-28187400	Flanking Active TSS	HepG2	liver
9	chr6:28187000-28187400	Enhancers	Left Ventricle	heart
10	chr6:28187000-28187400	Enhancers	Lung	lung
11	chr6:28187000-28187400	Enhancers	Pancreas	Pancrea
12	chr6:28187000-28187400	Enhancers	Sigmoid Colon	Sigmoid Colon
13	chr6:28187000-28187400	Bivalent Enhancer	Stomach Mucosa	stomach
14	chr6:28187000-28187600	Flanking Active TSS	K562	blood
15	chr6:28187000-28188000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr6:28187000-28188000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr6:28187000-28188200	Weak transcription	NH-A	brain
18	chr6:28187000-28188600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr6:28187000-28192400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr6:28187000-28192400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr6:28187200-28187400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr6:28187200-28187400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr6:28187200-28187400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
24	chr6:28187200-28187400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr6:28187200-28187400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr6:28187200-28187400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr6:28187200-28187400	Flanking Active TSS	Duodenum Mucosa	Duodenum
28	chr6:28187200-28187400	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr6:28187200-28187400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr6:28187200-28187400	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr6:28187200-28187400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
32	chr6:28187200-28187400	Enhancers	Hela-S3	cervix
33	chr6:28187200-28187600	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
34	chr6:28187200-28188200	Enhancers	Placenta	Placenta
35	chr6:28187200-28189800	Weak transcription	NHEK	skin
36	chr6:28187200-28190800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr6:28187200-28192000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr6:28187200-28192000	Weak transcription	HMEC	breast
39	chr6:28187200-28192200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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