Variant report

Variant	rs6816990
Chromosome Location	chr4:76575137-76575138
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:76572563..76577476-chr4:76578400..76583140,7	K562	blood:
2	chr4:76574757..76576381-chr4:76592960..76594947,2	K562	blood:
3	chr4:76573131..76578046-chr4:76580054..76584668,6	K562	blood:
4	chr4:76568880..76572103-chr4:76574675..76578166,4	K562	blood:

Variant related genes	Relation type
ENSG00000138757	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10856853	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11097041	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11556146	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11723767	0.85[EUR][1000 genomes]
rs11734358	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12498415	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17215400	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17280714	0.85[EUR][1000 genomes]
rs4610362	0.87[EUR][1000 genomes]
rs60225400	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs60945555	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6531816	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6850797	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6851487	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][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	nsv879495	chr4:76493256-76585823	Strong transcription Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv879496	chr4:76493256-76620803	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv879497	chr4:76519096-76620803	Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	esv1793652	chr4:76521217-76581775	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
5	esv3353539	chr4:76530136-76993859	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:76556200-76590000	Weak transcription	Small Intestine	intestine
2	chr4:76565000-76584200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr4:76565600-76588600	Strong transcription	Fetal Thymus	thymus
4	chr4:76565600-76588800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:76566200-76596600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr4:76566400-76593800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr4:76566800-76585800	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr4:76567000-76588200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr4:76567000-76588200	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr4:76567200-76579000	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr4:76567200-76585800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr4:76567200-76586200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr4:76567400-76587400	Strong transcription	Placenta	Placenta
14	chr4:76567400-76588400	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr4:76567400-76588400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
16	chr4:76567400-76596600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr4:76567600-76587000	Strong transcription	H1 Cell Line	embryonic stem cell
18	chr4:76567600-76587200	Strong transcription	Liver	Liver
19	chr4:76567600-76588000	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr4:76567600-76588200	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr4:76567600-76588400	Strong transcription	Dnd41	blood
22	chr4:76568000-76575200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
23	chr4:76568000-76576200	Strong transcription	Primary T helper cells PMA-I stimulated	--
24	chr4:76568000-76583600	Strong transcription	Duodenum Mucosa	Duodenum
25	chr4:76568000-76587400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr4:76568000-76588600	Strong transcription	Primary B cells from cord blood	blood
27	chr4:76568200-76578000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr4:76568200-76584800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr4:76568600-76575400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr4:76568600-76577000	Strong transcription	Primary T cells from cord blood	blood
31	chr4:76568600-76583600	Strong transcription	Adipose Nuclei	Adipose
32	chr4:76568600-76588600	Strong transcription	Primary B cells from peripheral blood	blood
33	chr4:76568800-76576200	Strong transcription	Fetal Muscle Trunk	muscle
34	chr4:76568800-76577400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr4:76568800-76578600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr4:76568800-76579000	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr4:76568800-76581200	Strong transcription	Primary T cells fromperipheralblood	blood
38	chr4:76568800-76583400	Strong transcription	Fetal Intestine Large	intestine
39	chr4:76568800-76584000	Strong transcription	NH-A	brain
40	chr4:76568800-76587800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr4:76569000-76575600	Strong transcription	ES-I3 Cell Line	embryonic stem cell
42	chr4:76569200-76576200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr4:76569200-76580400	Strong transcription	H9 Cell Line	embryonic stem cell
44	chr4:76569400-76575200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr4:76569400-76584000	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr4:76569600-76584000	Strong transcription	Primary neutrophils fromperipheralblood	blood
47	chr4:76569600-76585000	Weak transcription	Stomach Mucosa	stomach
48	chr4:76569600-76586800	Strong transcription	Primary hematopoietic stem cells	blood
49	chr4:76569800-76575200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr4:76569800-76577800	Strong transcription	HepG2	liver

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