Variant report

Variant	rs2092403
Chromosome Location	chr6:2401042-2401043
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:2396597..2398652-chr6:2400293..2401857,2	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1016500	0.83[ASN][1000 genomes]
rs10793836	0.80[ASN][1000 genomes]
rs11242767	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11759415	0.83[ASN][1000 genomes]
rs12197998	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12213061	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13196905	0.81[EUR][1000 genomes]
rs13218890	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1883586	0.81[ASN][1000 genomes]
rs1883587	0.81[ASN][1000 genomes]
rs1883588	0.81[ASN][1000 genomes]
rs1883589	0.81[ASN][1000 genomes]
rs1883590	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2073002	0.95[CHB][hapmap];0.95[JPT][hapmap];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2281251	0.81[EUR][1000 genomes]
rs4281006	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4354194	0.80[ASN][1000 genomes]
rs4959183	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4959649	0.80[ASN][1000 genomes]
rs4959655	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4959656	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4959657	0.89[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4959658	0.93[YRI][hapmap];0.88[AFR][1000 genomes]
rs4959660	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4959664	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56024732	0.83[ASN][1000 genomes]
rs6907369	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6920321	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6925653	0.83[ASN][1000 genomes]
rs6940450	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7449538	0.80[ASN][1000 genomes]
rs764343	0.83[ASN][1000 genomes]
rs764344	0.83[ASN][1000 genomes]
rs7755460	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9392385	0.80[EUR][1000 genomes]
rs9503158	0.80[ASN][1000 genomes]
rs9503160	0.80[ASN][1000 genomes]
rs9503162	0.81[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:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:2392400-2414400	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr6:2395400-2403800	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr6:2396800-2415400	Weak transcription	Rectal Smooth Muscle	rectum
4	chr6:2397000-2402800	Weak transcription	Brain Cingulate Gyrus	brain
5	chr6:2397000-2409400	Weak transcription	HepG2	liver
6	chr6:2397200-2410200	Weak transcription	Colon Smooth Muscle	Colon
7	chr6:2397400-2402400	Weak transcription	Psoas Muscle	Psoas
8	chr6:2397400-2403000	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr6:2397400-2404200	Weak transcription	Fetal Kidney	kidney
10	chr6:2397800-2406800	Weak transcription	Fetal Heart	heart
11	chr6:2398000-2401200	Weak transcription	Colonic Mucosa	Colon
12	chr6:2398000-2403200	Weak transcription	Brain Substantia Nigra	brain
13	chr6:2398000-2412600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr6:2398200-2405400	Weak transcription	Right Ventricle	heart
15	chr6:2398400-2401800	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr6:2398600-2403800	Weak transcription	Gastric	stomach
17	chr6:2398600-2405400	Weak transcription	Spleen	Spleen
18	chr6:2398800-2402200	Strong transcription	Left Ventricle	heart
19	chr6:2399000-2401200	Strong transcription	Fetal Intestine Large	intestine
20	chr6:2399400-2402400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr6:2399600-2401200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr6:2399800-2401200	Weak transcription	Fetal Lung	lung
23	chr6:2399800-2404000	Weak transcription	Primary T cells from cord blood	blood
24	chr6:2399800-2404200	Weak transcription	Duodenum Mucosa	Duodenum
25	chr6:2399800-2409000	Weak transcription	Thymus	Thymus
26	chr6:2399800-2414000	Weak transcription	Fetal Stomach	stomach
27	chr6:2399800-2449200	Weak transcription	Stomach Smooth Muscle	stomach
28	chr6:2400600-2401400	ZNF genes & repeats	Aorta	Aorta
29	chr6:2400600-2401400	ZNF genes & repeats	Lung	lung
30	chr6:2400600-2401600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr6:2400600-2401600	ZNF genes & repeats	Fetal Intestine Small	intestine
32	chr6:2400600-2402000	Strong transcription	Duodenum Smooth Muscle	Duodenum
33	chr6:2400800-2401200	Strong transcription	Pancreas	Pancrea
34	chr6:2400800-2401400	ZNF genes & repeats	Adipose Nuclei	Adipose
35	chr6:2400800-2401400	ZNF genes & repeats	Liver	Liver
36	chr6:2400800-2401400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
37	chr6:2400800-2402000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
38	chr6:2400800-2402200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
39	chr6:2401000-2401200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr6:2401000-2406000	Weak transcription	Ovary	ovary

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