Variant report

Variant	rs62408709
Chromosome Location	chr6:30768032-30768033
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:30767146..30768720-chr6:30776918..30779090,2	MCF-7	breast:
2	chr6:30732748..30734676-chr6:30767851..30770809,2	K562	blood:
3	chr6:30705811..30713504-chr6:30753060..30768565,33	MCF-7	breast:
4	chr6:30765847..30772235-chr6:30775518..30781372,10	K562	blood:
5	chr6:30766009..30775294-chr6:30775700..30782710,15	MCF-7	breast:
6	chr6:30762133..30768787-chr6:30785989..30790050,8	MCF-7	breast:
7	chr6:30766881..30768729-chr6:30796268..30797854,2	MCF-7	breast:
8	chr6:30720410..30722435-chr6:30765919..30768598,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000272273	Chromatin interaction
ENSG00000228022	Chromatin interaction
ENSG00000137331	Chromatin interaction
ENSG00000137312	Chromatin interaction

Extended variants
information (count: 109 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:99)

rs_ID	r²[population]
rs10807071	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12189560	0.82[EUR][1000 genomes]
rs12189986	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12190167	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12190453	0.82[EUR][1000 genomes]
rs12190527	0.92[AFR][1000 genomes]
rs12192177	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12192178	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12192205	0.96[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs12192430	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12192704	0.82[EUR][1000 genomes]
rs12192760	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12192828	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12195469	0.96[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs12195508	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12195605	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12195964	0.96[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs12197154	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12197221	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12198723	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12198842	0.85[EUR][1000 genomes]
rs12199559	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12199612	0.92[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs12200562	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12200829	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12202570	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12202778	0.92[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs12202957	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12203011	0.92[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs12203199	0.92[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs12203797	0.82[EUR][1000 genomes]
rs12204146	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12204167	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12205844	0.88[AFR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12205961	0.92[AFR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12206022	0.96[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs12206742	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12206930	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12207652	0.96[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs12208098	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12208771	0.92[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs12209725	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12210111	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12210318	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12210590	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12212837	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12213493	0.96[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs12213497	0.82[EUR][1000 genomes]
rs12214232	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12214398	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12215119	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1264372	1.00[ASN][1000 genomes]
rs16897921	0.96[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs16897932	0.96[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs17189483	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17189490	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17195830	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17195837	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2394414	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28744161	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28744171	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28766294	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28830248	0.88[AFR][1000 genomes]
rs28877339	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28890780	0.82[EUR][1000 genomes]
rs4248152	0.89[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs4327730	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4409219	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4711240	0.92[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs4711241	0.96[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs4713373	0.82[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs4713376	0.92[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs4713386	0.96[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs4713387	0.96[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs4713388	0.82[EUR][1000 genomes]
rs4713391	0.96[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs4995774	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs59293911	0.92[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs62400964	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62400965	0.96[AFR][1000 genomes]
rs62400966	0.96[AFR][1000 genomes]
rs62400977	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62400978	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62400979	0.92[EUR][1000 genomes]
rs62400980	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62400981	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62408707	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62408708	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62408712	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62408713	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62408715	0.92[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs62408716	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62408717	0.92[AFR][1000 genomes]
rs62408723	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62408724	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62408725	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62408726	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62408727	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62408728	0.96[AFR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3519970	chr6:30382942-31378788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
2	esv3519971	chr6:30382942-31378788	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
3	nsv601481	chr6:30422632-31284253	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1012 gene(s)	inside rSNPs	diseases
4	esv3430377	chr6:30443802-30814426	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	967 gene(s)	inside rSNPs	diseases
5	esv2758041	chr6:30644693-30816319	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	223 gene(s)	inside rSNPs	diseases
6	esv2759413	chr6:30644693-30816319	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	223 gene(s)	inside rSNPs	diseases
7	nsv1015372	chr6:30704734-31582152	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
8	nsv538173	chr6:30704734-31582152	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
9	nsv527226	chr6:30716719-30772378	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
10	nsv1023695	chr6:30754540-30773349	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30751000-30769800	Weak transcription	Right Ventricle	heart
2	chr6:30757600-30768400	Weak transcription	Hela-S3	cervix
3	chr6:30759200-30768800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:30761600-30781000	Weak transcription	Small Intestine	intestine
5	chr6:30761800-30772000	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr6:30762000-30768600	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr6:30762600-30768800	Weak transcription	Fetal Stomach	stomach
8	chr6:30763200-30768600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr6:30763600-30771000	Enhancers	HepG2	liver
10	chr6:30763600-30772000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr6:30764000-30772000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr6:30764200-30769400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr6:30765800-30769000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr6:30767000-30768400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr6:30767000-30770000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr6:30767200-30768200	Weak transcription	Ovary	ovary
17	chr6:30767200-30768800	Weak transcription	Fetal Muscle Leg	muscle
18	chr6:30767200-30768800	Weak transcription	Placenta	Placenta
19	chr6:30767200-30772000	Weak transcription	Spleen	Spleen
20	chr6:30767200-30781200	Weak transcription	Gastric	stomach
21	chr6:30767400-30768800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr6:30767400-30772000	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr6:30767400-30772000	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr6:30767400-30772200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr6:30767800-30770200	Enhancers	HUVEC	blood vessel
26	chr6:30768000-30768200	Enhancers	K562	blood
27	chr6:30768000-30768400	Enhancers	Fetal Lung	lung

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