Variant report

Variant	rs73839710
Chromosome Location	chr4:88313344-88313345
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr4:88313006-88313704	K562	blood:	n/a	n/a
2	CEBPB	chr4:88313340-88313709	HepG2	liver:	n/a	n/a
3	MXI1	chr4:88310607-88313452	SK-N-SH	brain:	n/a	n/a
4	CEBPB	chr4:88313232-88313665	K562	blood:	n/a	n/a
5	CEBPB	chr4:88313234-88313700	A549	lung:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:88293477..88300868-chr4:88308814..88313684,7	K562	blood:
2	chr4:88311663..88314102-chr4:88359641..88363442,4	K562	blood:
3	chr4:88309813..88313902-chr4:88342245..88346379,5	K562	blood:
4	chr4:88310667..88314164-chr4:88342247..88345345,4	K562	blood:

No data

Variant related genes	Relation type
HSD17B11	TF binding region
ENSG00000170502	Chromatin interaction
ENSG00000198189	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11930079	1.00[AMR][1000 genomes]
rs11947959	1.00[AMR][1000 genomes]
rs55799601	1.00[AMR][1000 genomes]
rs55805875	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60837247	1.00[AMR][1000 genomes]
rs61101244	1.00[AMR][1000 genomes]
rs73839184	1.00[AMR][1000 genomes]
rs73839711	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73841127	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	nsv1004518	chr4:88218473-88354403	Weak transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv1002789	chr4:88239340-88606485	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:88309600-88313400	Active TSS	Stomach Smooth Muscle	stomach
2	chr4:88310000-88313400	Active TSS	K562	blood
3	chr4:88310600-88313400	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr4:88311000-88313400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr4:88311400-88313400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr4:88311600-88313400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr4:88312600-88313600	Flanking Active TSS	Primary B cells from cord blood	blood
8	chr4:88312800-88313400	Flanking Active TSS	Dnd41	blood
9	chr4:88312800-88313400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr4:88313000-88313400	Flanking Active TSS	HepG2	liver
11	chr4:88313000-88320400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr4:88313000-88320400	Weak transcription	Pancreas	Pancrea
13	chr4:88313200-88313400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
14	chr4:88313200-88313400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr4:88313200-88313400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr4:88313200-88313400	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr4:88313200-88313400	Enhancers	Brain Hippocampus Middle	brain
18	chr4:88313200-88313400	Active TSS	Brain Inferior Temporal Lobe	brain
19	chr4:88313200-88313400	Enhancers	Brain Substantia Nigra	brain
20	chr4:88313200-88313400	Enhancers	Fetal Brain Female	brain
21	chr4:88313200-88313400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
22	chr4:88313200-88313400	Enhancers	Rectal Smooth Muscle	rectum
23	chr4:88313200-88313600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr4:88313200-88313600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
25	chr4:88313200-88313600	Enhancers	Primary T cells from cord blood	blood
26	chr4:88313200-88313600	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr4:88313200-88313600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr4:88313200-88313600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr4:88313200-88313600	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr4:88313200-88313600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr4:88313200-88313600	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr4:88313200-88313600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr4:88313200-88313600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr4:88313200-88313600	Enhancers	Brain Angular Gyrus	brain
35	chr4:88313200-88313600	Enhancers	Brain Cingulate Gyrus	brain
36	chr4:88313200-88313600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
37	chr4:88313200-88313600	Enhancers	Colonic Mucosa	Colon
38	chr4:88313200-88313600	Enhancers	Duodenum Smooth Muscle	Duodenum
39	chr4:88313200-88313600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr4:88313200-88313600	Enhancers	Fetal Intestine Large	intestine
41	chr4:88313200-88313600	Enhancers	Fetal Intestine Small	intestine
42	chr4:88313200-88313600	Enhancers	A549	lung
43	chr4:88313200-88313600	Enhancers	Hela-S3	cervix
44	chr4:88313200-88313600	Enhancers	HMEC	breast
45	chr4:88313200-88313600	Enhancers	HSMM	muscle
46	chr4:88313200-88313600	Active TSS	NHDF-Ad	bronchial
47	chr4:88313200-88313600	Enhancers	NHLF	lung
48	chr4:88313200-88313800	Enhancers	Liver	Liver
49	chr4:88313200-88315600	Weak transcription	Right Atrium	heart
50	chr4:88313200-88320800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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