Variant report

Variant	rs6005783
Chromosome Location	chr22:28838013-28838014
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:28447447..28448524-chr22:28837980..28838886,4	K562	blood:
2	chr22:28416092..28416754-chr22:28837943..28838869,2	K562	blood:
3	chr22:28447496..28448401-chr22:28837962..28838861,4	MCF-7	breast:
4	chr22:28447530..28448237-chr22:28837942..28838802,2	MCF-7	breast:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs12157518	1.00[CEU][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs12159502	1.00[CEU][hapmap];0.88[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs16986103	0.85[AFR][1000 genomes]
rs16986290	1.00[CEU][hapmap]
rs16986377	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs16986462	0.91[EUR][1000 genomes]
rs16986548	1.00[CEU][hapmap];1.00[YRI][hapmap];0.85[EUR][1000 genomes]
rs35731009	0.85[EUR][1000 genomes]
rs58427200	0.91[EUR][1000 genomes]
rs5997363	0.82[YRI][hapmap];0.86[EUR][1000 genomes]
rs5997365	1.00[CEU][hapmap];0.97[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs5997367	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs5997369	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs5997372	0.97[EUR][1000 genomes]
rs6005733	0.85[AFR][1000 genomes]
rs6005751	1.00[CEU][hapmap]
rs6005765	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6005779	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs6005780	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6005789	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6005793	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6005829	0.88[EUR][1000 genomes]
rs6005833	0.88[EUR][1000 genomes]
rs6005834	0.82[EUR][1000 genomes]
rs73428096	0.97[EUR][1000 genomes]
rs73430108	0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062877	chr22:28163507-28866350	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1067544	chr22:28755418-29055246	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
3	nsv544674	chr22:28755418-29055246	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
4	nsv588880	chr22:28807277-29001789	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
5	nsv916473	chr22:28837041-29215603	Weak transcription Bivalent Enhancer Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28833400-28840000	Active TSS	Fetal Brain Female	brain
2	chr22:28836400-28838200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr22:28836400-28838600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr22:28836600-28838200	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr22:28836800-28839600	Active TSS	Ovary	ovary
6	chr22:28837000-28838400	Enhancers	Small Intestine	intestine
7	chr22:28837000-28838600	Active TSS	Rectal Mucosa Donor 29	rectum
8	chr22:28837000-28839200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr22:28837200-28838600	Flanking Active TSS	Osteobl	bone
10	chr22:28837200-28840000	Active TSS	Brain Inferior Temporal Lobe	brain
11	chr22:28837400-28838600	Flanking Active TSS	NHLF	lung
12	chr22:28837400-28838800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
13	chr22:28837400-28839000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
14	chr22:28837400-28839800	Active TSS	Aorta	Aorta
15	chr22:28837400-28839800	Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr22:28837600-28838200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr22:28837600-28838200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr22:28837600-28838200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
19	chr22:28837600-28838200	Flanking Active TSS	Primary T cells from cord blood	blood
20	chr22:28837600-28838200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
21	chr22:28837600-28838200	Flanking Active TSS	Fetal Thymus	thymus
22	chr22:28837600-28838200	Flanking Active TSS	Rectal Smooth Muscle	rectum
23	chr22:28837600-28838400	Flanking Active TSS	Fetal Heart	heart
24	chr22:28837600-28838400	Flanking Active TSS	Thymus	Thymus
25	chr22:28837600-28838600	Flanking Active TSS	HSMMtube	muscle
26	chr22:28837600-28838800	Flanking Active TSS	Adipose Nuclei	Adipose
27	chr22:28837600-28838800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
28	chr22:28837600-28838800	Flanking Active TSS	NH-A	brain
29	chr22:28837600-28839200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr22:28837600-28839200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr22:28837600-28839200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
32	chr22:28837600-28839400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
33	chr22:28837600-28839400	Flanking Active TSS	Fetal Muscle Leg	muscle
34	chr22:28837600-28839800	Active TSS	ES-I3 Cell Line	embryonic stem cell
35	chr22:28837600-28839800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr22:28837600-28839800	Active TSS	Breast Myoepithelial Primary Cells	Breast
37	chr22:28837600-28839800	Flanking Active TSS	Primary hematopoietic stem cells	blood
38	chr22:28837600-28839800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
39	chr22:28837600-28839800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr22:28837600-28839800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr22:28837600-28839800	Flanking Active TSS	Liver	Liver
42	chr22:28837600-28839800	Active TSS	Right Atrium	heart
43	chr22:28837600-28839800	Active TSS	Right Ventricle	heart
44	chr22:28837800-28838200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
45	chr22:28837800-28838200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
46	chr22:28837800-28838200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr22:28837800-28838200	Flanking Active TSS	Duodenum Mucosa	Duodenum
48	chr22:28837800-28838200	Flanking Active TSS	HepG2	liver
49	chr22:28837800-28838200	Enhancers	HMEC	breast
50	chr22:28837800-28838400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin

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