Variant report

Variant	rs6818849
Chromosome Location	chr4:76617056-76617057
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:76616814..76618583-chr4:76648133..76650358,2	K562	blood:
2	chr4:76595955..76598875-chr4:76615667..76617359,2	K562	blood:
3	chr4:76615229..76618143-chr4:76619781..76621972,2	K562	blood:

Variant related genes	Relation type
ENSG00000138768	Chromatin interaction
ENSG00000138757	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17000766	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1801838	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2017607	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2037012	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs41398350	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56084244	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56151783	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56308338	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56693719	1.00[AMR][1000 genomes]
rs56728961	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57008925	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57099382	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58140957	1.00[AMR][1000 genomes]
rs58822138	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59405026	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs59448225	0.94[AMR][1000 genomes]
rs59684133	0.88[AFR][1000 genomes]
rs60332325	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs66606482	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs67662392	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6812339	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs68155345	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6817228	1.00[ASN][1000 genomes]
rs6821144	1.00[AMR][1000 genomes]
rs6823013	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6828587	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6841290	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6841486	1.00[ASN][1000 genomes]
rs6843244	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6857983	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72649405	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72649420	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][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	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
2	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
3	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
4	nsv1003516	chr4:76597112-76729576	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	nsv537143	chr4:76597112-76729576	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:76599000-76619600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:76599000-76620400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:76599200-76620000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr4:76599200-76640000	Weak transcription	Aorta	Aorta
5	chr4:76599400-76617400	Weak transcription	Fetal Stomach	stomach
6	chr4:76599400-76619200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr4:76599400-76620400	Weak transcription	Left Ventricle	heart
8	chr4:76599600-76621600	Weak transcription	Fetal Lung	lung
9	chr4:76599600-76623400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr4:76599600-76624000	Weak transcription	Brain Substantia Nigra	brain
11	chr4:76599600-76639800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr4:76599600-76639800	Weak transcription	Brain Angular Gyrus	brain
13	chr4:76599600-76639800	Weak transcription	Brain Cingulate Gyrus	brain
14	chr4:76599600-76647600	Weak transcription	Fetal Brain Female	brain
15	chr4:76599800-76619800	Weak transcription	Liver	Liver
16	chr4:76599800-76621200	Weak transcription	HepG2	liver
17	chr4:76599800-76627800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr4:76600400-76640000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr4:76600600-76627000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr4:76603600-76617600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr4:76605800-76623400	Weak transcription	K562	blood
22	chr4:76605800-76633200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr4:76606000-76619800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr4:76607400-76640600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr4:76611000-76620400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
26	chr4:76611400-76621200	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr4:76611600-76619000	Weak transcription	Stomach Smooth Muscle	stomach
28	chr4:76611600-76620400	Weak transcription	Colon Smooth Muscle	Colon
29	chr4:76612600-76622200	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr4:76612800-76620400	Weak transcription	Fetal Thymus	thymus
31	chr4:76612800-76620600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr4:76613000-76621600	Weak transcription	HSMMtube	muscle
33	chr4:76613000-76623400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr4:76613200-76617200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr4:76613200-76619400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr4:76613200-76627800	Weak transcription	A549	lung
37	chr4:76613400-76619000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr4:76613400-76619200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr4:76613400-76623400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr4:76613800-76620200	Weak transcription	Primary T cells from cord blood	blood
41	chr4:76613800-76621400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr4:76613800-76639000	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr4:76613800-76639600	Weak transcription	Ovary	ovary
44	chr4:76614200-76619200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr4:76614200-76621400	Weak transcription	Primary hematopoietic stem cells	blood
46	chr4:76614400-76619200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr4:76614400-76620200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr4:76614600-76630200	Weak transcription	Brain Hippocampus Middle	brain
49	chr4:76614800-76620400	Strong transcription	Fetal Muscle Trunk	muscle
50	chr4:76614800-76628200	Weak transcription	Gastric	stomach

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