Variant report

Variant	rs6811473
Chromosome Location	chr4:88134989-88134990
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:88132419..88135036-chr4:88191101..88193543,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10516790	0.81[YRI][hapmap];1.00[AMR][1000 genomes]
rs11932935	1.00[ASW][hapmap];0.90[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11942670	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11945120	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17012461	0.81[YRI][hapmap]
rs17012488	0.81[YRI][hapmap]
rs6815528	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6821964	0.81[YRI][hapmap]
rs6822184	0.81[YRI][hapmap]
rs6846074	0.81[YRI][hapmap]
rs73837806	1.00[AMR][1000 genomes]
rs73837807	1.00[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	nsv997750	chr4:87933945-88264127	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1007020	chr4:88046263-88235018	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv537169	chr4:88046263-88235018	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:88081800-88140200	Weak transcription	Aorta	Aorta
2	chr4:88097600-88140400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr4:88116400-88138000	Weak transcription	HepG2	liver
4	chr4:88122400-88140000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr4:88125400-88140200	Weak transcription	Fetal Intestine Large	intestine
6	chr4:88126800-88140000	Weak transcription	Fetal Stomach	stomach
7	chr4:88127200-88140200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr4:88128400-88140000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr4:88128600-88140000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr4:88128600-88140200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr4:88129400-88139800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr4:88129800-88140000	Weak transcription	Fetal Intestine Small	intestine
13	chr4:88130600-88140000	Weak transcription	Fetal Brain Female	brain
14	chr4:88130800-88139800	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr4:88131200-88140200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr4:88131400-88135400	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr4:88131400-88136400	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr4:88131400-88137200	Weak transcription	GM12878-XiMat	blood
19	chr4:88132000-88139800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr4:88132000-88140200	Weak transcription	Primary B cells from cord blood	blood
21	chr4:88132200-88139200	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr4:88132800-88135200	Enhancers	Fetal Heart	heart
23	chr4:88132800-88135400	Enhancers	K562	blood
24	chr4:88133200-88140000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr4:88133600-88135200	Enhancers	Fetal Lung	lung
26	chr4:88133800-88135200	Enhancers	Colon Smooth Muscle	Colon
27	chr4:88133800-88135200	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr4:88133800-88135400	Enhancers	Liver	Liver
29	chr4:88133800-88135400	Enhancers	Brain Substantia Nigra	brain
30	chr4:88134000-88135200	Enhancers	Rectal Smooth Muscle	rectum
31	chr4:88134400-88135200	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr4:88134400-88135200	Enhancers	Left Ventricle	heart
33	chr4:88134400-88135200	Enhancers	Ovary	ovary
34	chr4:88134400-88135200	Enhancers	Psoas Muscle	Psoas
35	chr4:88134400-88135200	Enhancers	Small Intestine	intestine
36	chr4:88134400-88135400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr4:88134600-88135000	Enhancers	Muscle Satellite Cultured Cells	--
38	chr4:88134600-88135000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr4:88134600-88135000	Enhancers	Brain Cingulate Gyrus	brain
40	chr4:88134600-88135000	Enhancers	Brain Hippocampus Middle	brain
41	chr4:88134600-88135000	Enhancers	Gastric	stomach
42	chr4:88134600-88135000	Enhancers	Pancreas	Pancrea
43	chr4:88134600-88135000	Enhancers	Right Ventricle	heart
44	chr4:88134600-88135000	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr4:88134600-88135000	Enhancers	Stomach Mucosa	stomach
46	chr4:88134600-88135000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
47	chr4:88134600-88135200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr4:88134600-88135200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr4:88134600-88135200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr4:88134600-88135200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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