Variant report

Variant	rs2294659
Chromosome Location	chr6:2440475-2440476
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:2414672..2416357-chr6:2438734..2440972,2	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10458063	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10458138	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10458139	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10458140	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10458141	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10458142	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11242769	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11242770	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11242771	0.85[CEU][hapmap]
rs11242772	0.86[CEU][hapmap];0.90[CHD][hapmap];0.91[GIH][hapmap];0.92[TSI][hapmap];0.94[EUR][1000 genomes]
rs11242773	0.86[EUR][1000 genomes]
rs11242775	0.84[EUR][1000 genomes]
rs11753825	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11758482	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12189681	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12189724	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12195877	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12196223	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12199363	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12199637	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12205452	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12206851	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12209220	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12209322	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12209326	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12210286	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12210452	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12213643	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12528202	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12662045	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13214014	0.80[AMR][1000 genomes]
rs13214565	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13220392	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2073003	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2076470	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34885387	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35144026	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3734506	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3817904	0.81[CHB][hapmap];0.83[CHD][hapmap];0.82[GIH][hapmap];0.80[MEX][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9328099	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs982096	0.91[EUR][1000 genomes]
rs983027	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs983028	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531295	chr6:1773436-2724986	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
2	nsv883388	chr6:2093432-2514911	Strong transcription Enhancers ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
3	nsv883389	chr6:2093432-2776303	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	87 gene(s)	inside rSNPs	diseases
4	nsv1021573	chr6:2246721-2832408	Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	80 gene(s)	inside rSNPs	diseases
5	nsv538102	chr6:2246721-2832408	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	80 gene(s)	inside rSNPs	diseases
6	nsv883390	chr6:2265344-2584919	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
7	nsv883391	chr6:2282747-2507448	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv1016878	chr6:2375784-2680476	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
9	nsv498004	chr6:2380300-3313587	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	163 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	chr6:2399800-2449200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr6:2402200-2449200	Weak transcription	Left Ventricle	heart
3	chr6:2414600-2452000	Weak transcription	Ovary	ovary
4	chr6:2414800-2448800	Weak transcription	Liver	Liver
5	chr6:2414800-2449200	Weak transcription	Fetal Stomach	stomach
6	chr6:2417600-2454200	Weak transcription	Pancreas	Pancrea
7	chr6:2428800-2446200	Weak transcription	Right Ventricle	heart
8	chr6:2432200-2449200	Weak transcription	Rectal Smooth Muscle	rectum
9	chr6:2433200-2449200	Weak transcription	Adipose Nuclei	Adipose
10	chr6:2433600-2447000	Weak transcription	Fetal Intestine Large	intestine
11	chr6:2434000-2448400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr6:2434200-2442600	Weak transcription	Lung	lung
13	chr6:2434400-2449200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr6:2435000-2449200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr6:2435400-2442000	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr6:2435400-2449200	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr6:2436200-2447000	Weak transcription	Fetal Intestine Small	intestine
18	chr6:2437000-2442000	Weak transcription	Placenta	Placenta
19	chr6:2437200-2442000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr6:2437400-2441800	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr6:2437400-2447400	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr6:2438800-2449400	Weak transcription	Primary T cells from cord blood	blood
23	chr6:2439800-2440600	Enhancers	HepG2	liver
24	chr6:2440200-2440600	Weak transcription	Spleen	Spleen
25	chr6:2440200-2449200	Weak transcription	Aorta	Aorta
26	chr6:2440400-2448400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr6:2440400-2448600	Weak transcription	Brain Anterior Caudate	brain

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