Variant report

Variant	rs6815750
Chromosome Location	chr4:53989921-53989922
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	chr4:53987651..53991411-chr4:53993052..53996048,3	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs17082212	1.00[AMR][1000 genomes]
rs17082290	1.00[AMR][1000 genomes]
rs17082420	1.00[AMR][1000 genomes]
rs28817423	1.00[AMR][1000 genomes]
rs4386657	1.00[AMR][1000 genomes]
rs57223947	1.00[AMR][1000 genomes]
rs57470249	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57632491	1.00[AMR][1000 genomes]
rs57968004	1.00[AMR][1000 genomes]
rs59033313	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59033992	1.00[AMR][1000 genomes]
rs59945377	1.00[AMR][1000 genomes]
rs60967961	1.00[AMR][1000 genomes]
rs61689349	1.00[AMR][1000 genomes]
rs6817299	1.00[AMR][1000 genomes]
rs6828460	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs6854759	1.00[AMR][1000 genomes]
rs6855857	1.00[AMR][1000 genomes]
rs73141439	1.00[AMR][1000 genomes]
rs73141441	1.00[AMR][1000 genomes]
rs73141448	1.00[AMR][1000 genomes]
rs73143431	1.00[AMR][1000 genomes]
rs73143436	1.00[AMR][1000 genomes]
rs73144927	1.00[AMR][1000 genomes]
rs73144941	1.00[AMR][1000 genomes]
rs73144946	1.00[AMR][1000 genomes]
rs73144995	1.00[AMR][1000 genomes]
rs73149135	1.00[AMR][1000 genomes]
rs73149140	1.00[AMR][1000 genomes]
rs73149142	1.00[AMR][1000 genomes]
rs73149168	1.00[AMR][1000 genomes]
rs73149170	1.00[AMR][1000 genomes]
rs73149171	1.00[AMR][1000 genomes]
rs7441164	1.00[AMR][1000 genomes]
rs7664855	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7674948	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7683505	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7693228	1.00[AMR][1000 genomes]
rs7694536	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7696803	1.00[AMR][1000 genomes]
rs7696943	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004889	chr4:53436500-54106281	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv537094	chr4:53436500-54106281	Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:53978800-54008000	Weak transcription	Primary T cells from cord blood	blood
2	chr4:53980400-53993000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr4:53985600-53990200	Enhancers	Stomach Mucosa	stomach
4	chr4:53985600-53991400	Enhancers	HepG2	liver
5	chr4:53986200-53993000	Weak transcription	Fetal Stomach	stomach
6	chr4:53986200-53993200	Weak transcription	Fetal Kidney	kidney
7	chr4:53986200-53993600	Weak transcription	Psoas Muscle	Psoas
8	chr4:53986600-53993600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr4:53986600-53994600	Weak transcription	Colon Smooth Muscle	Colon
10	chr4:53986800-53990000	Enhancers	Brain Hippocampus Middle	brain
11	chr4:53986800-53990400	Weak transcription	Primary hematopoietic stem cells	blood
12	chr4:53986800-54010800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr4:53986800-54011000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr4:53987400-53990200	Enhancers	Small Intestine	intestine
15	chr4:53987600-53991200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr4:53987600-53993600	Weak transcription	Fetal Muscle Leg	muscle
17	chr4:53987800-53993600	Weak transcription	Aorta	Aorta
18	chr4:53987800-53993800	Weak transcription	Adipose Nuclei	Adipose
19	chr4:53987800-54016800	Weak transcription	NHLF	lung
20	chr4:53988000-53990400	Enhancers	Liver	Liver
21	chr4:53988000-53992800	Weak transcription	Ovary	ovary
22	chr4:53988000-53993800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr4:53988000-53994400	Weak transcription	NHDF-Ad	bronchial
24	chr4:53988000-53997600	Weak transcription	Osteobl	bone
25	chr4:53988200-54008000	Weak transcription	Primary B cells from cord blood	blood
26	chr4:53988400-53990000	Enhancers	Fetal Intestine Large	intestine
27	chr4:53988400-53992600	Weak transcription	Lung	lung
28	chr4:53988600-54011000	Weak transcription	Brain Cingulate Gyrus	brain
29	chr4:53988800-53993600	Weak transcription	Right Atrium	heart
30	chr4:53989000-53990000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr4:53989200-53990000	Enhancers	HUVEC	blood vessel
32	chr4:53989200-54010200	Weak transcription	Primary B cells from peripheral blood	blood
33	chr4:53989600-53990000	Enhancers	Gastric	stomach
34	chr4:53989600-53992800	Weak transcription	Fetal Lung	lung
35	chr4:53989600-53995000	Weak transcription	Brain Substantia Nigra	brain
36	chr4:53989800-53990000	Enhancers	Colonic Mucosa	Colon
37	chr4:53989800-53990000	Enhancers	Rectal Mucosa Donor 31	rectum

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