Variant report

Variant	rs6006299
Chromosome Location	chr22:30301710-30301711
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:30298737..30301199-chr22:30301217..30303994,2	K562	blood:
2	chr22:30301235..30303561-chr22:30313115..30315333,2	MCF-7	breast:
3	chr22:30289517..30291568-chr22:30301427..30303381,2	K562	blood:
4	chr22:30298737..30301803-chr22:30302494..30306350,3	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs16987976	0.90[YRI][hapmap]
rs16987987	0.82[YRI][hapmap]
rs16988115	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16988122	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16988151	0.95[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28647168	1.00[AMR][1000 genomes]
rs56733052	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57258477	1.00[AMR][1000 genomes]
rs57724305	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58255360	1.00[AMR][1000 genomes]
rs58952888	0.83[AMR][1000 genomes]
rs5997540	1.00[AMR][1000 genomes]
rs5997565	1.00[AMR][1000 genomes]
rs6006297	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6006301	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6006309	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6006317	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6006318	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6006331	1.00[AMR][1000 genomes]
rs60245742	1.00[AMR][1000 genomes]
rs61043203	1.00[AMR][1000 genomes]
rs61191536	1.00[AMR][1000 genomes]
rs61540772	1.00[AMR][1000 genomes]
rs73394851	1.00[AMR][1000 genomes]
rs73394860	1.00[AMR][1000 genomes]
rs73394861	1.00[AMR][1000 genomes]
rs73394863	1.00[AMR][1000 genomes]
rs73394876	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73396842	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73396845	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73398604	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73398634	0.85[AFR][1000 genomes]
rs73398637	1.00[AMR][1000 genomes]
rs73398640	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73398663	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73400621	0.83[AMR][1000 genomes]
rs73400633	1.00[AMR][1000 genomes]
rs73400648	1.00[AMR][1000 genomes]
rs73400675	1.00[AMR][1000 genomes]
rs73400689	1.00[AMR][1000 genomes]
rs9620939	0.83[AMR][1000 genomes]
rs9625903	0.83[YRI][hapmap];0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	esv1829662	chr22:30171725-30304390	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30280200-30303800	Weak transcription	Aorta	Aorta
2	chr22:30280800-30303600	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr22:30281000-30303000	Weak transcription	Fetal Muscle Trunk	muscle
4	chr22:30281000-30303200	Weak transcription	Fetal Muscle Leg	muscle
5	chr22:30281400-30312200	Weak transcription	Primary B cells from peripheral blood	blood
6	chr22:30281600-30303400	Weak transcription	Fetal Intestine Small	intestine
7	chr22:30282200-30303000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr22:30282200-30303200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr22:30282200-30310200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr22:30282600-30303400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr22:30283800-30307000	Weak transcription	Esophagus	oesophagus
12	chr22:30284000-30303600	Weak transcription	Brain Angular Gyrus	brain
13	chr22:30284400-30303800	Weak transcription	Pancreas	Pancrea
14	chr22:30287000-30319600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr22:30290400-30312000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr22:30291000-30303600	Weak transcription	Colon Smooth Muscle	Colon
17	chr22:30294800-30302000	Weak transcription	Right Ventricle	heart
18	chr22:30294800-30303400	Weak transcription	Rectal Smooth Muscle	rectum
19	chr22:30294800-30303800	Weak transcription	Fetal Stomach	stomach
20	chr22:30295400-30303400	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr22:30295800-30303200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr22:30296000-30303800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr22:30296600-30305600	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr22:30297000-30303800	Weak transcription	Fetal Intestine Large	intestine
25	chr22:30297800-30302800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr22:30297800-30303000	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr22:30297800-30303000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr22:30297800-30303400	Weak transcription	Adipose Nuclei	Adipose
29	chr22:30298000-30302000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr22:30298000-30302000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr22:30298000-30303400	Weak transcription	Brain Substantia Nigra	brain
32	chr22:30298000-30303400	Weak transcription	Fetal Lung	lung
33	chr22:30298000-30303600	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr22:30298000-30303600	Weak transcription	NHLF	lung
35	chr22:30298000-30314600	Enhancers	Primary neutrophils fromperipheralblood	blood
36	chr22:30298200-30303400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr22:30298200-30304000	Weak transcription	Primary hematopoietic stem cells	blood
38	chr22:30298800-30303800	Weak transcription	Primary B cells from cord blood	blood
39	chr22:30299000-30303000	Weak transcription	Osteobl	bone
40	chr22:30299000-30303400	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr22:30299000-30303600	Weak transcription	Brain Germinal Matrix	brain
42	chr22:30299600-30302000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr22:30299800-30308400	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr22:30299800-30308400	Weak transcription	Lung	lung
45	chr22:30300000-30302400	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr22:30300200-30303000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr22:30300400-30302600	Weak transcription	Small Intestine	intestine
48	chr22:30300400-30307000	Weak transcription	Spleen	Spleen
49	chr22:30300600-30303400	Weak transcription	Brain Anterior Caudate	brain
50	chr22:30300600-30303400	Weak transcription	Duodenum Mucosa	Duodenum

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