Variant report

Variant	rs3135319
Chromosome Location	chr6:28982823-28982824
allele	A/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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:28831141..28836054-chr6:28982378..28987476,7	MCF-7	breast:
2	chr6:28971200..28973323-chr6:28982235..28984571,2	MCF-7	breast:
3	chr6:28977147..28978779-chr6:28981232..28982926,2	MCF-7	breast:
4	chr6:28957169..28959714-chr6:28980288..28983225,2	MCF-7	breast:
5	chr6:28978104..28979854-chr6:28982165..28984128,2	K562	blood:
6	chr6:28892042..28894995-chr6:28981382..28984107,2	K562	blood:
7	chr6:28889755..28892054-chr6:28980985..28986161,5	MCF-7	breast:
8	chr6:28890021..28893121-chr6:28982575..28985723,3	MCF-7	breast:
9	chr6:28804427..28806431-chr6:28981603..28983162,2	K562	blood:
10	chr6:28946686..28952098-chr6:28981757..28987491,9	K562	blood:
11	chr6:28953166..28955403-chr6:28981090..28983668,3	MCF-7	breast:
12	chr6:28979896..28983843-chr6:28985442..28987603,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000225595	Chromatin interaction
ENSG00000204713	Chromatin interaction
ENSG00000227214	Chromatin interaction
ENSG00000197935	Chromatin interaction
ENSG00000244349	Chromatin interaction

Extended variants
information (count: 101 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs1005123	0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1237485	0.84[EUR][1000 genomes]
rs1476016	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1543796	0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1794587	0.85[EUR][1000 genomes]
rs2013848	0.81[ASN][1000 genomes]
rs2032500	0.80[EUR][1000 genomes]
rs2071790	0.85[EUR][1000 genomes]
rs209122	0.82[EUR][1000 genomes]
rs209126	0.82[EUR][1000 genomes]
rs209128	0.82[EUR][1000 genomes]
rs209129	0.82[EUR][1000 genomes]
rs209137	0.82[EUR][1000 genomes]
rs209138	0.81[EUR][1000 genomes]
rs209148	0.80[EUR][1000 genomes]
rs209153	0.80[EUR][1000 genomes]
rs209161	0.80[EUR][1000 genomes]
rs209163	0.80[EUR][1000 genomes]
rs2157312	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2157313	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2179648	0.86[ASN][1000 genomes]
rs2187807	0.80[ASN][1000 genomes]
rs2187808	0.80[ASN][1000 genomes]
rs2269555	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2394512	0.90[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2765229	0.81[EUR][1000 genomes]
rs3116844	0.88[AMR][1000 genomes]
rs3116846	0.84[AMR][1000 genomes]
rs3129145	0.88[AMR][1000 genomes]
rs3129150	0.87[AMR][1000 genomes]
rs3129792	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3129793	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3130717	0.85[AMR][1000 genomes]
rs3130718	0.86[AMR][1000 genomes]
rs3130841	0.84[EUR][1000 genomes]
rs3130842	0.85[EUR][1000 genomes]
rs3130886	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3130889	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3130897	0.85[EUR][1000 genomes]
rs3131070	0.85[EUR][1000 genomes]
rs3131074	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3131077	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3131102	0.84[EUR][1000 genomes]
rs3135303	0.80[EUR][1000 genomes]
rs3135315	0.82[EUR][1000 genomes]
rs3135321	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3135322	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3135323	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3135324	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3135326	0.80[EUR][1000 genomes]
rs3135327	0.81[EUR][1000 genomes]
rs3135328	0.85[EUR][1000 genomes]
rs381808	0.80[EUR][1000 genomes]
rs4427026	0.81[ASN][1000 genomes]
rs4713190	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4713192	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4947339	0.81[ASN][1000 genomes]
rs6456876	0.80[ASN][1000 genomes]
rs6456880	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6456883	0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6456891	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6900967	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6901599	0.80[ASN][1000 genomes]
rs6904975	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6906909	0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6916161	0.91[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6920392	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6931823	0.81[ASN][1000 genomes]
rs763009	0.83[EUR][1000 genomes]
rs7761547	0.81[ASN][1000 genomes]
rs7768299	0.90[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs9257401	0.81[ASN][1000 genomes]
rs9257447	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9257449	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9257455	0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs9257461	0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs9257464	0.83[AMR][1000 genomes]
rs9348816	0.90[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs9348817	0.85[AMR][1000 genomes]
rs9380109	0.81[AMR][1000 genomes]
rs9393939	0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs9468467	0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs9468472	0.89[AMR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427748	chr6:28831888-28999434	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
2	nsv830622	chr6:28861667-29015804	Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
3	nsv1023540	chr6:28922691-29326018	Active TSS Bivalent/Poised TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
4	nsv538169	chr6:28922691-29326018	Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
5	nsv869541	chr6:28922692-29326017	Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
6	nsv916439	chr6:28922697-29326087	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
7	nsv462668	chr6:28922719-29342775	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
8	nsv601213	chr6:28922719-29342775	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
9	nsv1015796	chr6:28923980-29342825	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
10	nsv462669	chr6:28936556-29337500	Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
11	nsv601214	chr6:28936556-29337500	Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
12	nsv601215	chr6:28946920-29348297	ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
13	nsv1023028	chr6:28956136-29343575	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
14	nsv538170	chr6:28956136-29343575	ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
15	nsv1018937	chr6:28956136-29366175	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
16	nsv1032468	chr6:28968930-29155749	Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
17	nsv1026403	chr6:28981639-29343575	Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
18	nsv538171	chr6:28981639-29343575	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28979600-28984000	Weak transcription	Right Atrium	heart
2	chr6:28979600-28984200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:28982200-28984400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr6:28982200-28985200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
5	chr6:28982200-28985200	Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chr6:28982400-28983000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
7	chr6:28982400-28983000	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr6:28982400-28983000	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
9	chr6:28982400-28983200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
10	chr6:28982400-28983400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr6:28982400-28984000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr6:28982600-28983000	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr6:28982600-28983000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr6:28982600-28983000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
15	chr6:28982600-28983000	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
16	chr6:28982600-28983000	Bivalent/Poised TSS	Ovary	ovary
17	chr6:28982600-28983200	Bivalent/Poised TSS	Cortex derived primary cultured neurospheres	brain
18	chr6:28982600-28983200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr6:28982600-28983200	Bivalent/Poised TSS	Adipose Nuclei	Adipose
20	chr6:28982600-28983200	Active TSS	Osteobl	bone
21	chr6:28982600-28983400	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
22	chr6:28982600-28983400	Bivalent/Poised TSS	Brain Germinal Matrix	brain
23	chr6:28982600-28983400	Bivalent/Poised TSS	Fetal Brain Female	brain
24	chr6:28982600-28983400	ZNF genes & repeats	Gastric	stomach
25	chr6:28982600-28983400	ZNF genes & repeats	Lung	lung
26	chr6:28982600-28983400	Bivalent Enhancer	Right Ventricle	heart
27	chr6:28982600-28983600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
28	chr6:28982600-28984000	ZNF genes & repeats	Spleen	Spleen
29	chr6:28982800-28983000	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr6:28982800-28983000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr6:28982800-28983000	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
32	chr6:28982800-28983200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr6:28982800-28983200	Bivalent/Poised TSS	Colonic Mucosa	Colon
34	chr6:28982800-28983200	Bivalent/Poised TSS	Thymus	Thymus
35	chr6:28982800-28983400	Active TSS	Esophagus	oesophagus
36	chr6:28982800-28983600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
37	chr6:28982800-28983800	Weak transcription	Rectal Smooth Muscle	rectum
38	chr6:28982800-28984000	Active TSS	HMEC	breast
39	chr6:28982800-28984600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr6:28982800-28985200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin

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