Variant report

Variant	rs73811393
Chromosome Location	chr4:26865086-26865087
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:26863995..26865710-chr4:27013310..27015079,2	K562	blood:
2	chr4:26863853..26865538-chr4:26880691..26883360,2	K562	blood:
3	chr4:26864497..26869713-chr4:26871452..26874672,4	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10001152	1.00[AMR][1000 genomes]
rs10003072	1.00[AMR][1000 genomes]
rs10004586	1.00[AMR][1000 genomes]
rs10029816	1.00[AMR][1000 genomes]
rs10031739	1.00[AMR][1000 genomes]
rs10213141	1.00[AMR][1000 genomes]
rs10213530	1.00[AMR][1000 genomes]
rs13434414	1.00[AMR][1000 genomes]
rs28368519	1.00[AMR][1000 genomes]
rs28445792	1.00[AMR][1000 genomes]
rs28447383	1.00[AMR][1000 genomes]
rs28453819	1.00[AMR][1000 genomes]
rs28626184	1.00[AMR][1000 genomes]
rs28638023	1.00[AMR][1000 genomes]
rs28647178	1.00[AMR][1000 genomes]
rs28653517	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28667144	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28688827	1.00[AMR][1000 genomes]
rs28690636	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28733863	1.00[AMR][1000 genomes]
rs28819422	1.00[AMR][1000 genomes]
rs28850050	1.00[AMR][1000 genomes]
rs4422408	1.00[AMR][1000 genomes]
rs56169951	1.00[AMR][1000 genomes]
rs6821940	1.00[AMR][1000 genomes]
rs6848664	1.00[AMR][1000 genomes]
rs73811398	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73813221	1.00[AMR][1000 genomes]
rs73813250	1.00[AMR][1000 genomes]
rs73813253	1.00[AMR][1000 genomes]
rs9990447	1.00[AMR][1000 genomes]
rs9997247	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470021	chr4:26721578-27067027	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1001306	chr4:26821511-26955344	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv461312	chr4:26844674-27078376	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv593872	chr4:26844674-27078376	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:26861600-26865400	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr4:26861600-26865400	Active TSS	Right Atrium	heart
3	chr4:26861600-26865800	Active TSS	NHLF	lung
4	chr4:26861800-26865400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr4:26861800-26865400	Active TSS	Duodenum Smooth Muscle	Duodenum
6	chr4:26861800-26865600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr4:26861800-26865800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr4:26861800-26866000	Active TSS	Cortex derived primary cultured neurospheres	brain
9	chr4:26861800-26866600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr4:26861800-26867000	Active TSS	Ovary	ovary
11	chr4:26862000-26865400	Active TSS	Fetal Muscle Leg	muscle
12	chr4:26862000-26865400	Active TSS	HSMMtube	muscle
13	chr4:26862000-26866000	Active TSS	HMEC	breast
14	chr4:26863400-26865200	Flanking Active TSS	Liver	Liver
15	chr4:26863400-26865400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr4:26863600-26865400	Flanking Active TSS	HUVEC	blood vessel
17	chr4:26863600-26865600	Flanking Active TSS	Primary B cells from cord blood	blood
18	chr4:26863800-26865200	Weak transcription	Small Intestine	intestine
19	chr4:26863800-26866800	Weak transcription	Stomach Mucosa	stomach
20	chr4:26863800-26869400	Weak transcription	Pancreas	Pancrea
21	chr4:26863800-26869400	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr4:26863800-26870600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr4:26863800-26874600	Weak transcription	Left Ventricle	heart
24	chr4:26863800-26874600	Weak transcription	Spleen	Spleen
25	chr4:26863800-26875400	Weak transcription	Lung	lung
26	chr4:26864000-26865600	Flanking Active TSS	Dnd41	blood
27	chr4:26864000-26865800	Flanking Active TSS	Primary T cells from cord blood	blood
28	chr4:26864000-26866000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr4:26864000-26867800	Weak transcription	Psoas Muscle	Psoas
30	chr4:26864200-26865400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
31	chr4:26864200-26865800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr4:26864200-26876800	Weak transcription	Colonic Mucosa	Colon
33	chr4:26864200-26877200	Weak transcription	Aorta	Aorta
34	chr4:26864400-26865200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr4:26864400-26865600	Flanking Active TSS	GM12878-XiMat	blood
36	chr4:26864400-26866200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
37	chr4:26864400-26866600	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr4:26864400-26866800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr4:26864400-26869400	Weak transcription	Fetal Thymus	thymus
40	chr4:26864400-26869800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr4:26864400-26872600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr4:26864400-26873400	Weak transcription	A549	lung
43	chr4:26864400-26886600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr4:26864600-26865200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr4:26864600-26865200	Enhancers	Brain Hippocampus Middle	brain
46	chr4:26864600-26865200	Enhancers	Fetal Brain Male	brain
47	chr4:26864600-26865200	Weak transcription	Fetal Stomach	stomach
48	chr4:26864600-26865200	Enhancers	Rectal Mucosa Donor 29	rectum
49	chr4:26864600-26865200	Weak transcription	HSMM	muscle
50	chr4:26864600-26865400	Enhancers	Monocytes-CD14+_RO01746	blood

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