Variant report

Variant	rs2945900
Chromosome Location	chr8:8186819-8186820
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs12674854	0.86[ASN][1000 genomes]
rs1518992	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1850724	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1850725	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1850726	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2102866	0.83[ASN][1000 genomes]
rs2945898	0.86[ASN][1000 genomes]
rs2945901	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2945902	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2945903	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2945904	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2945905	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2945907	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2945908	0.83[EUR][1000 genomes]
rs2945913	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2976852	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2976910	0.96[ASN][1000 genomes]
rs2976917	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2976918	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2976927	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2976947	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2979208	0.94[ASN][1000 genomes]
rs2979210	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2979211	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2979212	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2979213	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2979215	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2979216	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2979217	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2979218	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2979219	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2979220	0.91[ASN][1000 genomes]
rs2979221	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2979222	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2979226	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2980494	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2980495	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2980496	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2980505	0.80[ASN][1000 genomes]
rs939069	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915915	chr8:7239471-8222024	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	76 gene(s)	inside rSNPs	diseases
2	nsv533299	chr8:7268825-8222024	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	75 gene(s)	inside rSNPs	diseases
3	nsv869874	chr8:7753583-8229906	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	37 gene(s)	inside rSNPs	diseases
4	nsv817196	chr8:8079861-8255544	Weak transcription Genic enhancers Active TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	nsv890331	chr8:8093240-8971100	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
6	nsv465448	chr8:8098079-8403142	Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv610152	chr8:8098079-8403142	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv610153	chr8:8098079-8454531	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
9	nsv610154	chr8:8101641-8328101	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv1032259	chr8:8108863-8247113	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
11	nsv1020290	chr8:8108863-8260280	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
12	nsv539440	chr8:8108863-8260280	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
13	nsv1025994	chr8:8108863-8580201	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
14	nsv1029268	chr8:8130629-8403435	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
15	nsv539446	chr8:8130629-8403435	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
16	nsv1030433	chr8:8130629-8653691	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
17	nsv539447	chr8:8130629-8653691	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers 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
18	nsv610156	chr8:8163243-8207339	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2945900	BLK	Cis_chr	lymphoblastoid	RTeQTL

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8168800-8187400	Weak transcription	Small Intestine	intestine
2	chr8:8173800-8187000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
3	chr8:8173800-8188200	Strong transcription	Primary T cells from cord blood	blood
4	chr8:8174000-8187800	Strong transcription	Rectal Mucosa Donor 29	rectum
5	chr8:8174200-8187000	Weak transcription	Hela-S3	cervix
6	chr8:8174200-8187200	Strong transcription	Duodenum Mucosa	Duodenum
7	chr8:8174600-8187200	Strong transcription	Fetal Intestine Small	intestine
8	chr8:8174600-8188200	Weak transcription	Fetal Thymus	thymus
9	chr8:8175200-8189400	Weak transcription	Liver	Liver
10	chr8:8175800-8187200	Strong transcription	HUVEC	blood vessel
11	chr8:8176200-8188000	Weak transcription	Dnd41	blood
12	chr8:8176800-8187000	Strong transcription	Fetal Intestine Large	intestine
13	chr8:8176800-8187200	Weak transcription	Pancreas	Pancrea
14	chr8:8179000-8187200	Strong transcription	HMEC	breast
15	chr8:8179000-8189400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr8:8179400-8187200	Strong transcription	Osteobl	bone
17	chr8:8179600-8194600	Strong transcription	HepG2	liver
18	chr8:8181200-8187200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr8:8181200-8188000	Strong transcription	Placenta	Placenta
20	chr8:8182000-8187200	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr8:8182400-8187400	Strong transcription	NHEK	skin
22	chr8:8182600-8190600	Weak transcription	NHDF-Ad	bronchial
23	chr8:8182600-8196800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr8:8182800-8187400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr8:8182800-8187600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr8:8182800-8187800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr8:8182800-8188200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr8:8182800-8188800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr8:8182800-8190600	Weak transcription	Right Atrium	heart
30	chr8:8182800-8196200	Weak transcription	Rectal Smooth Muscle	rectum
31	chr8:8182800-8196400	Weak transcription	Aorta	Aorta
32	chr8:8182800-8215800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr8:8183000-8187000	Weak transcription	Stomach Mucosa	stomach
34	chr8:8183000-8187200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr8:8183000-8187800	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr8:8183000-8187800	Strong transcription	NH-A	brain
37	chr8:8183000-8188200	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr8:8183000-8188600	Weak transcription	Brain Cingulate Gyrus	brain
39	chr8:8183000-8190800	Weak transcription	Brain Angular Gyrus	brain
40	chr8:8183000-8197000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr8:8183200-8188000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr8:8183200-8188800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr8:8183200-8191600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
44	chr8:8183200-8199400	Strong transcription	HUES48 Cell Line	embryonic stem cell
45	chr8:8183600-8189600	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr8:8183600-8191600	Strong transcription	H1 Cell Line	embryonic stem cell
47	chr8:8183800-8187600	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr8:8184000-8189400	Strong transcription	H9 Cell Line	embryonic stem cell
49	chr8:8184000-8190800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr8:8184200-8187400	Strong transcription	iPS-15b Cell Line	embryonic stem cell

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