Variant report

Variant	rs3021380
Chromosome Location	chr8:6304475-6304476
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11986515	1.00[AMR][1000 genomes]
rs11990038	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs11994936	1.00[CHB][hapmap];0.84[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12114547	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1550691	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs17076853	1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs17076868	1.00[EUR][1000 genomes]
rs17076872	0.85[YRI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2440420	1.00[CHB][hapmap]
rs2442513	1.00[CHB][hapmap]
rs2916656	1.00[CHB][hapmap]
rs2916748	1.00[CHB][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2916749	0.84[YRI][hapmap]
rs2920673	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3020273	1.00[CHB][hapmap];0.89[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890034	chr8:5926632-6427868	Enhancers Strong transcription Active TSS Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1021175	chr8:5965453-6880364	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1027682	chr8:6018123-6920312	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	esv3506199	chr8:6116693-6536592	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
5	esv3506200	chr8:6116693-6536592	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
6	nsv1022940	chr8:6128828-6304814	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1026004	chr8:6144798-6307692	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv539431	chr8:6144798-6307692	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv933107	chr8:6173244-6312807	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv482828	chr8:6182711-6355710	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv890055	chr8:6237397-6351252	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv531468	chr8:6248682-6309194	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	nsv933282	chr8:6261036-6440592	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
14	nsv1015981	chr8:6286575-6578450	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
15	nsv1027313	chr8:6286575-6920312	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:6265000-6339200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr8:6278600-6305400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr8:6282800-6313400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr8:6287200-6309200	Weak transcription	Fetal Brain Male	brain
5	chr8:6287600-6306600	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr8:6287600-6307600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:6287600-6344400	Weak transcription	Small Intestine	intestine
8	chr8:6287800-6304800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr8:6289000-6308000	Strong transcription	Dnd41	blood
10	chr8:6289200-6306200	Strong transcription	Primary T cells fromperipheralblood	blood
11	chr8:6289200-6306400	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr8:6289400-6306600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr8:6290000-6305000	Strong transcription	Rectal Mucosa Donor 29	rectum
14	chr8:6291800-6305800	Weak transcription	Stomach Mucosa	stomach
15	chr8:6294800-6304600	Strong transcription	Fetal Intestine Large	intestine
16	chr8:6295000-6305000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr8:6295000-6305000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr8:6297400-6304600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr8:6297400-6305000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr8:6297600-6305000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr8:6297800-6304800	Strong transcription	Primary B cells from peripheral blood	blood
22	chr8:6297800-6305000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr8:6297800-6305200	Strong transcription	Fetal Muscle Leg	muscle
24	chr8:6297800-6306000	Strong transcription	Adipose Nuclei	Adipose
25	chr8:6297800-6306000	Strong transcription	Duodenum Mucosa	Duodenum
26	chr8:6297800-6307600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr8:6298000-6307600	Strong transcription	GM12878-XiMat	blood
28	chr8:6299000-6304800	Strong transcription	Rectal Mucosa Donor 31	rectum
29	chr8:6299000-6305200	Strong transcription	Stomach Smooth Muscle	stomach
30	chr8:6299200-6308000	Strong transcription	Fetal Thymus	thymus
31	chr8:6299800-6304600	Strong transcription	Primary neutrophils fromperipheralblood	blood
32	chr8:6300000-6306200	Strong transcription	Primary T cells from cord blood	blood
33	chr8:6300000-6306200	Strong transcription	Fetal Lung	lung
34	chr8:6300200-6304800	Strong transcription	Fetal Muscle Trunk	muscle
35	chr8:6300800-6305800	Strong transcription	Brain Hippocampus Middle	brain
36	chr8:6301000-6309600	Weak transcription	Fetal Heart	heart
37	chr8:6301000-6338400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr8:6301400-6308800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr8:6301600-6306200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr8:6302200-6305000	Strong transcription	NHEK	skin
41	chr8:6302400-6305800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr8:6302600-6307200	Weak transcription	HMEC	breast
43	chr8:6302800-6313800	Weak transcription	Brain Angular Gyrus	brain
44	chr8:6302800-6339800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr8:6303000-6307200	Weak transcription	Thymus	Thymus
46	chr8:6303000-6307200	Weak transcription	HSMM	muscle
47	chr8:6303000-6307800	Weak transcription	Aorta	Aorta
48	chr8:6303000-6309000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr8:6303000-6310200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr8:6303000-6311800	Weak transcription	NHDF-Ad	bronchial

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links